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Gene Symbol TET2
Synonyms IMD75 | KIAA1546 | MDS
Gene Description TET2, methylcytosine dioxygenase TET2, is a member of the ten-eleven-translocation family of genes that plays a role in DNA methylation and is involved in hematopoesis (PMID: 26099018, PMID: 25510268, PMID: 27848178). TET2 has been identified as a tumor suppressor in hematological malignancies, and mutations in TET2 are common in hematological cancers including myelodysplastic syndrome, chronic myelomoncytic leukemia, and atypical CML (PMID: 26099018, PMID: 22240200, PMID: 30138727) and epigenetic dysregulation has been observed in glioblastoma (PMID: 29899831).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1505T missense loss of function TET2 A1505T lies within the catalytic domain of the Tet2 protein (PMID: 28242787). A1505T confers a loss of function to the Tet2 protein as demonstrated by the inability of A1505T to inhibit cell proliferation, lack of WT1 binding and regulation of WT1 target genes, and reduced enzymatic conversion of 5mC (PMID: 25601757).
A855S missense unknown TET2 A855S does not lie within any known functional domains of the Tet2 protein (UniProt.org). A855S has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
C1193W missense loss of function - predicted TET2 C1193W lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1193W is predicted to confer a loss of function to the Tet2 protein as demonstrated by the loss of Tet2 methylcytosine dioxygenase activity in cell based assays (PMID: 24697267).
C1221Y missense unknown TET2 C1221Y lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1221Y has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
C1271W missense unknown TET2 C1271W lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1271W has been identified in the scientific literature (PMID: 30279227), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
C1273F missense unknown TET2 C1273F lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1273F has been identified in sequencing studies (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
C1289F missense unknown TET2 C1289F lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1289F has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2020).
C1374Y missense unknown TET2 C1374Y lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1374Y has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
C1378F missense unknown TET2 C1378F lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1378F has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
C1396R missense unknown TET2 C1396R lies within the catalytic domain of the Tet2 protein (PMID: 28242787). C1396R has been identified in sequencing studies (PMID: 27908881), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
C784S missense unknown TET2 C784S does not lie within any known functional domains of the Tet2 protein (UniProt.org). C784S has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
D1143fs frameshift loss of function - predicted TET2 D1143fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 1143 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-interacting region and substrate binding region (UniProt.org), D1143fs is predicted to lead to a loss of Tet2 function.
D1242V missense loss of function - predicted TET2 D1242V lies within the catalytic domain of the Tet2 protein (PMID: 28242787). D1242V is predicted to confer a loss of function on the Tet2 protein as demonstrated by the lack of WT1 binding and localization to WT1 target genes (PMID: 25601757).
D1384A missense loss of function - predicted TET2 D1384A lies within the catalytic domain of the Tet2 protein (PMID: 28242787). D1384A has not been individually characterized but results in an enzymatically dead protein in conjunction with H1382Y (PMID: 23222540) and the conserved position in mouse Tet2 is unable to convert 5mC to 5hmC (PMID: 21057493).
D1384V missense unknown TET2 D1384V lies within the catalytic domain of the Tet2 protein (PMID: 28242787). D1384V results in an enzymatically dead protein in conjunction with H1382Y (PMID: 24315485), but has not been individually characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
D1427Y missense unknown TET2 D1427Y lies within the catalytic domain of the Tet2 protein (PMID: 28242787). D1427Y has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
D545Tfs*10 frameshift loss of function - predicted TET2 D545Tfs*10 indicates a shift in the reading frame starting at amino acid 545 and terminating 10 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). D545Tfs*10 has not been characterized however, due to the effects of other truncation mutations downstream of D545Tfs*10 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
E1207K missense unknown TET2 E1207K lies within the catalytic domain of the Tet2 protein (PMID: 28242787). E1207K has been identified in sequencing studies (PMID: 30279227, PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
E1323* nonsense loss of function - predicted TET2 E1323* results in a premature truncation of the Tet2 protein at amino acid 1323 of 2002 (UniProt.org). E1323* has not been characterized however, due to the effects of other truncation mutations downstream of E1323* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
E1879A missense unknown TET2 E1879A lies within the catalytic domain of the Tet2 protein (PMID: 28242787). E1879A has been identified in the scientific literature (PMID: 30279227, PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Oct 2020).
E320* nonsense loss of function - predicted TET2 E320* results in a premature truncation of the Tet2 protein at amino acid 320 of 2002 (UniProt.org). E320* has not been characterized however, due to the effects of other truncation mutations downstream of E320* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
F1300I missense unknown TET2 F1300I lies within the DNA-interacting region of the Tet2 protein (UniProt.org). F1300I has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2020).
F1377A missense loss of function - predicted TET2 F1377A lies within the catalytic domain of the Tet2 protein (PMID: 28242787). F1377A abolishes Tet2 catalytic activity in an in vitro assay (PMID: 30028600) and therefore, is predicted to lead to a loss of Tet2 protein function.
G1256D missense loss of function - predicted TET2 G1256D lies within the catalytic domain of the Tet2 protein (PMID: 28242787). G1256D is predicted to confer a loss of function on the Tet2 protein as demonstrated by the lack of WT1 binding and localization to WT1 target genes (PMID: 25601757).
G1275E missense unknown TET2 G1275E lies within the catalytic domain of the Tet2 protein (PMID: 28242787). G1275E has been identified in sequencing studies (PMID: 20693430), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
G1288S missense unknown TET2 G1288S lies within the catalytic domain of the Tet2 protein (PMID: 28242787). G1288S has been identified in sequencing studies (PMID: 21828143, PMID: 26437031, PMID: 23832012), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
G1361S missense unknown TET2 G1361S lies within the catalytic domain of the Tet2 protein (PMID: 28242787). G1361S has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2020).
G1814* nonsense unknown TET2 G1814* results in a premature truncation of the Tet2 protein at amino acid 1814 of 2002 (UniProt.org). G1814* has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
G1861R missense loss of function TET2 G1861R lies within the catalytic domain of the Tet2 protein (PMID: 28242787). G1861R confers a loss of function to the Tet2 protein as demonstrated by the inability of G1861R to inhibit cell proliferation, lack of WT1 binding and regulation of WT1 target genes, and reduced enzymatic conversion of 5mC (PMID: 25601757).
G355D missense unknown TET2 G355D does not lie within any known functional domains of the Tet2 protein (UniProt.org). G355D has been identified in sequencing studies (PMID: 31187595, PMID: 27534895, PMID: 26984174), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
H1219N missense unknown TET2 H1219N lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1219N has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
H1219Y missense unknown TET2 H1219Y lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1219Y has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2020).
H1380L missense unknown TET2 H1380L lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1380L has been identified in sequencing studies (PMID: 24345752, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
H1380Y missense unknown TET2 H1380Y lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1380Y has been identified in sequencing studies (PMID: 31187595, PMID: 24030381, PMID: 22395470), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
H1382Y missense loss of function - predicted TET2 H1382Y lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1382Y has not been individually characterized but results in an enzymatically dead protein in conjunction with D1384A (PMID: 23222540) and the conserved position in mouse Tet2 is unable to convert 5mC to 5hmC (PMID: 21057493).
H1778R missense no effect - predicted TET2 H1778R lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1778R is predicted to have no effect on Tet2 protein function as demonstrated by normal conversion levels of 5mC to 5hmC (PMID: 26284134).
H1868D missense unknown TET2 H1868D lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1868D has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
H1881Q missense loss of function - predicted TET2 H1881Q lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1881Q (corresponding to H1802Q in the murine counterparts) results in decreased enzymatic activity of Tet2 in culture (PMID: 21057493).
H1881R missense loss of function - predicted TET2 H1881R lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1881R (corresponding to H1802R in the murine counterparts) results in decreased enzymatic activity of Tet2 in culture (PMID: 21057493).
H1881Y missense unknown TET2 H1881Y lies within the catalytic domain of the Tet2 protein (PMID: 28242787). H1881Y has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2020).
H1904R missense loss of function - predicted TET2 H1904R lies within the substrate binding region of the Tet2 protein (UniProt.org). H1904R is predicted to confer a loss of function on the Tet2 protein as demonstrated by decreased Tet2 enzymatic activity in a cell-free assay (PMID: 24315485).
H924R missense unknown TET2 H924R does not lie within any known functional domains of the Tet2 protein (UniProt.org). H924R has been identified in sequencing studies (PMID: 26984174), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
I1175S missense unknown TET2 I1175S lies within the catalytic domain of the Tet2 protein (PMID: 28242787). I1175S has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2020).
I1762V missense no effect TET2 I1762V lies within the catalytic domain of the Tet2 protein (PMID: 28242787). I1762V has no effect on Tet2 protein function as demonstrated by the ability to produce amounts of 5hmC equivalent to Tet2 wild-type (J Cancer 2015; 6(9):832-842, (PMID: 26284134).
I1873T missense loss of function - predicted TET2 I1873T lies in the catalytic double strand beta helix region of the Tet2 protein (PMID: 24697267). I1873T is predicted to confer a loss of function to the Tet2 protein as demonstrated by loss of Tet2 methylcytosine dioxygenase activity in cell based assays (PMID: 24697267).
I249fs frameshift loss of function - predicted TET2 I249fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 249 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). I249fs has not been characterized, however, due to the effects of other truncation mutations downstream of I249 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
I812fs frameshift loss of function - predicted TET2 I812fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 812 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the catalytic domain (PMID: 25132561), I812fs is predicted to lead to a loss of Tet2 protein function.
inact mut unknown loss of function TET2 inact mut indicates that this variant results in a loss of Tet2 protein function. However, the specific amino acid change has not been identified.
K1171fs frameshift loss of function - predicted TET2 K1171fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 1171 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA-interacting region and substrate binding region (UniProt.org), K1171fs is predicted to lead to a loss of Tet2 function.
K450* nonsense loss of function - predicted TET2 K450* results in a premature truncation of the Tet2 protein at amino acid 450 of 2002 (UniProt.org). K450* has not been characterized however, due to the effects of other truncation mutations downstream of K450* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
K67fs frameshift loss of function - predicted TET2 K67fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 67 of 2002 (UniProt.org). Due to the loss of the catalytic domain (PMID: 25132561), K67fs is predicted to lead to a loss of Tet2 protein function.
L1322P missense unknown TET2 L1322P lies within the catalytic domain of the Tet2 protein (PMID: 28242787). L1322P has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
L1326S missense unknown TET2 L1326S lies within the catalytic domain of the Tet2 protein (PMID: 28242787). L1326S has been identified in sequencing studies (PMID: 24850867), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
L1514H missense unknown TET2 L1514H lies within the catalytic domain of the Tet2 protein (PMID: 28242787). L1514H has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
L1721W missense no effect - predicted TET2 L1721W lies within the catalytic domain of the Tet2 protein (PMID: 28242787). L1721W is predicted to have no effect on Tet2 protein function as demonstrated by normal conversion levels of 5mC to 5hmC (PMID: 26284134).
L1801F missense unknown TET2 L1801F lies within the catalytic domain of the Tet2 protein (PMID: 28242787). L1801F has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
L34F missense unknown TET2 L34F does not lie within any known functional domains of the Tet2 protein (UniProt.org). L34F has been identified in sequencing studies (PMID: 23889083, PMID: 30941510), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
L360W missense unknown TET2 L360W does not lie within any known functional domains of the Tet2 protein (UniProt.org). L360W has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
loss unknown loss of function TET2 loss indicates loss of the TET2 gene, mRNA, and protein.
M1293A missense unknown TET2 M1293A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). M1293A results in a loss of Tet2 enzymatic activity in conjunction with Y1294A in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
M1701I missense unknown TET2 M1701I lies within the catalytic domain of the Tet2 protein (PMID: 28242787). M1701I has been identified in sequencing studies (PMID: 19420352), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
mutant unknown unknown TET2 mutant indicates an unspecified mutation in the TET2 gene.
N1387A missense loss of function - predicted TET2 N1387A lies within the catalytic domain of the Tet2 protein (PMID: 28242787). N1387A is predicted to confer a loss of function to the Tet2 protein as demonstrated by decreased Tet2 enzymatic activity in a cell free assay (PMID: 24315485).
P1617H missense loss of function TET2 P1617H lies within the catalytic domain of the Tet2 protein (PMID: 28242787). P1617H confers a loss of function to the Tet2 protein as demonstrated by the inability of P1617H to inhibit cell proliferation, lack of WT1 binding and regulation of WT1 target genes, and reduced enzymatic conversion of 5mC (PMID: 25601757).
P1723S missense no effect - predicted TET2 P1723S lies within the catalytic domain of the Tet2 protein (PMID: 28242787). P1723S is predicted to have no effect on Tet2 protein function as demonstrated by normal conversion levels of 5mC to 5hmC (PMID: 26284134).
P174H missense unknown TET2 P174H does not lie within any known functional domains of the Tet2 protein (UniProt.org). P174H has been identified in sequencing studies (PMID: 26415585), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
P1889H missense unknown TET2 P1889H lies within the catalytic domain of the Tet2 protein (PMID: 28242787). P1889H has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
P29R missense unknown TET2 P29R does not lie within any known functional domains of the Tet2 protein (UniProt.org). P29R has been identified in the scientific literature (PMID: 30454965, PMID: 21828143, PMID: 32158090), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
P363L missense no effect - predicted TET2 P363L does not lie within any known functional domains of the Tet2 protein (UniProt.org). P363L may have no effect on Tet2 protein function as demonstrated by normal conversion levels of 5mC to 5hmC (PMID: 26284134).
Q1084P missense unknown TET2 Q1084P does not lie within any known functional domains of the Tet2 protein (UniProt.org). Q1084P has been identified in sequencing studies (PMID: 19372255), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
Q1191* nonsense loss of function - predicted TET2 Q1191* results in a premature truncation of the Tet2 protein at amino acid 1191 of 2002 (UniProt.org). Q1191* has not been characterized however, due to the effects of other truncation mutations downstream of Q1191* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q1389* nonsense loss of function - predicted TET2 Q1389* results in a premature truncation of the Tet2 protein at amino acid 1389 of 2002 (UniProt.org). Due to the loss of the substrate binding domain (UniProt.org), Q1389* is predicted to result in a loss of Tet2 function.
Q1414* nonsense loss of function - predicted TET2 Q1414* results in a premature truncation of the Tet2 protein at amino acid 1414 of 2002 (UniProt.org). Q1414* has not been characterized however, due to the effects of other truncation mutations downstream of Q1414* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q1524H missense unknown TET2 Q1524H lies within the catalytic domain of the Tet2 protein (PMID: 28242787). Q1524H has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
Q1540K missense unknown TET2 Q1540K lies within the catalytic domain of the Tet2 protein (PMID: 28242787). Q1540K has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
Q1624H missense unknown TET2 Q1624H lies within the catalytic domain of the Tet2 protein (PMID: 28242787). Q1624H has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
Q591* nonsense loss of function - predicted TET2 Q591* results in a premature truncation of the Tet2 protein at amino acid 591 of 2002 (UniProt.org). Q591* has not been characterized however, due to the effects of other truncation mutations downstream of Q591* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q642* nonsense loss of function - predicted TET2 Q642* results in a premature truncation of the Tet2 protein at amino acid 642 of 2002 (UniProt.org). Q642* has not been characterized however, due to the effects of other truncation mutations downstream of Q642* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q652* nonsense loss of function - predicted TET2 Q652* results in a premature truncation of the Tet2 protein at amino acid 652 of 2002 (UniProt.org). Q652* has not been characterized however, due to the effects of other truncation mutations downstream of Q652* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q690* nonsense loss of function - predicted TET2 Q690* results in a premature truncation of the Tet2 protein at amino acid 690 of 2002 (UniProt.org). Q690* has not been characterized however, due to the effects of other truncation mutations downstream of Q690* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q701* nonsense loss of function - predicted TET2 Q701* results in a premature truncation of the Tet2 protein at amino acid 701 of 2002 (UniProt.org). Q701* has not been characterized, however, due to the effects of other truncation mutations downstream of Q701 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q742* nonsense loss of function - predicted TET2 Q742* results in a premature truncation of the Tet2 protein at amino acid 742 of 2002 (UniProt.org). Due to the loss of the DNA binding and substrate binding regions (UniProt.org), Q742* is predicted to lead to a loss of Tet2 protein function.
Q876* nonsense loss of function - predicted TET2 Q876* results in a premature truncation of the Tet2 protein at amino acid 876 of 2002 (UniProt.org). Due to the loss of the DNA binding and substrate binding regions (UniProt.org), Q876* is predicted to lead to a loss of Tet2 protein function.
Q891fs frameshift loss of function - predicted TET2 Q891fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 891 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Q891fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q891 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q916* nonsense loss of function - predicted TET2 Q916* results in a premature truncation of the Tet2 protein at amino acid 916 of 2002 (UniProt.org). Q916* has not been characterized however, due to the effects of other truncation mutations downstream of Q916* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Q958Rfs*49 frameshift loss of function - predicted TET2 Q958Rfs*49 indicates a shift in the reading frame starting at amino acid 958 and terminating 49 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). Q958Rfs*49 has not been characterized, however, due to the effects of other truncation mutations downstream of Q958 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
R1067* nonsense loss of function - predicted TET2 R1067* results in a premature truncation of the Tet2 protein at amino acid 1067 of 2002 (UniProt.org). R1067* has not been characterized however, due to the effects of other truncation mutations downstream of $1067* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
R1179Efs*47 frameshift loss of function - predicted TET2 R1179Efs*47 indicates a shift in the reading frame starting at amino acid 1179 and terminating 47 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). R1179Efs*47 has not been characterized, however, due to the effects of other truncation mutations downstream of R1179 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
R1261G missense loss of function - predicted TET2 R1261G lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R1261G is predicted to confer a loss of function to the Tet2 protein as demonstrated by the loss of Tet2 methylcytosine dioxygenase activity in cell based assays (PMID: 24697267).
R1262A missense loss of function - predicted TET2 R1262A lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R1262A is predicted to confer a loss of function to the Tet2 protein as demonstrated by a 2-4 fold decrease in enzymatic activity (PMID: 24315485).
R1302G missense loss of function - predicted TET2 R1302G lies within the DNA-interacting region of the Tet2 protein (UniProt.org). R1302G is predicted to confer a loss of function on the Tet2 protein as demonstrated by the lack of WT1 binding and localization to WT1 target genes (PMID: 25601757).
R1359C missense unknown TET2 R1359C lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R1359C has been identified in sequencing studies (PMID: 23365461), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
R1359H missense unknown TET2 R1359H lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R1359H has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
R1359S missense unknown TET2 R1359S lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R1359S has been identified in sequencing studies (PMID: 31699793), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2020).
R1404* nonsense loss of function - predicted TET2 R1404* results in a premature truncation of the Tet2 protein at amino acid 1404 of 2002 (UniProt.org). R1404* has not been characterized however, due to the effects of other truncation mutations downstream of R1404* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
R1452* nonsense loss of function - predicted TET2 R1452* results in a premature truncation of the Tet2 protein at amino acid 1452 of 2002 (UniProt.org). Due to the loss of the substrate binding region (UniProt.org), R1452* is predicted to result in a loss of Tet2 protein function.
R1465* nonsense loss of function - predicted TET2 R1465* results in a premature truncation of the Tet2 protein at amino acid 1465 of 2002 (UniProt.org). R1465* has not been characterized, however, due to the effects of other truncation mutations downstream of R1465 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
R1572Q missense unknown TET2 R1572Q lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R1572Q has been identified in sequencing studies (PMID: 22430270), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
R1896M missense loss of function - predicted TET2 R1896M lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R1896M is predicted to confer a loss of function on the Tet2 protein as demonstrated by reduced Tet2 enzyme activity (PMID: 24315485).
R1896S missense loss of function - predicted TET2 R1896S lies in the catalytic double strand beta helix region of the Tet2 protein (PMID: 24697267) and in a binding region of 2-oxoglutarate (UniProt.org). R1896S is predicted to confer a loss of function on the Tet2 protein as demonstrated by substantial, but not total loss of Tet2 methylcytosine dioxygenase activity in cell based assays (PMID: 24697267).
R2000I missense unknown TET2 R2000I lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R2000I has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
R506* nonsense loss of function - predicted TET2 R506* results in a premature truncation of the Tet2 protein at amino acid 506 of 2002 (UniProt.org). R506* results in a loss of -5-hydroxymethylcytosine (5hmc) formation in cultured cells (PMID: 24994606), and therefore, is predicted to lead to a loss of Tet2 protein function.
S1039L missense unknown TET2 S1039L does not lie within any known functional domains of the Tet2 protein (UniProt.org). S1039L has been identified in sequencing studies (PMID: 26414667), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
S1290A missense unknown TET2 S1290A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). S1290A results in minor decrease of Tet2 enzymatic activity in conjunction with Y1295A in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
S1303N missense unknown TET2 S1303N lies within the DNA-interacting region of the Tet2 protein (UniProt.org). S1303N results in a loss of Tet2 enzymatic activity in conjunction with K1299E in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
S1369* nonsense loss of function - predicted TET2 S1369* results in a premature truncation of the Tet2 protein at amino acid 1369 of 2002 (UniProt.org). Due to the loss of the substrate binding domain (UniProt.org), S1369* is predicted to result in a loss of function in the Tet2 protein.
S1607L missense unknown TET2 S1607L lies within the catalytic domain of the Tet2 protein (PMID: 28242787). S1607L has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
S1758* nonsense loss of function - predicted TET2 S1758* results in a premature truncation of the Tet2 protein at amino acid 1758 of 2002 (UniProt.org). S1758* results in a loss of -5-hydroxymethylcytosine (5hmc) formation in cultured cells (PMID: 24994606), and therefore, is predicted to lead to a loss of Tet2 protein function.
S1870L missense unknown TET2 S1870L lies within the catalytic domain of the Tet2 protein (PMID: 28242787). S1870L has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
S354* nonsense loss of function - predicted TET2 S354* results in a premature truncation of the Tet2 protein at amino acid 354 of 2002 (UniProt.org). S354* has not been characterized, however, due to the effects of other truncation mutations downstream of S354 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
S358G missense unknown TET2 S358G does not lie within any known functional domains of the Tet2 protein (UniProt.org). S358G has been identified in sequencing studies (PMID: 24433485), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
S393Lfs*34 frameshift loss of function - predicted TET2 S393Lfs*34 indicates a shift in the reading frame starting at amino acid 393 and terminating 34 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). Due to the loss of the catalytic domain (PMID: 25132561), S393Lfs*34 is predicted to lead to a loss of Tet2 protein function.
S792* nonsense loss of function - predicted TET2 S792* results in a premature truncation of the Tet2 protein at amino acid 792 of 2002 (UniProt.org). S792* has not been characterized however, due to the effects of other truncation mutations downstream of S792* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
S833Ffs*8 frameshift loss of function - predicted TET2 S833Ffs*8 indicates a shift in the reading frame starting at amino acid 833 and terminating 8 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). S833Ffs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of S833 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
S835* nonsense loss of function - predicted TET2 S835* results in a premature truncation of the Tet2 protein at amino acid 835 of 2002 (UniProt.org). S835* has not been characterized, however, due to the effects of other truncation mutations downstream of S835 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
T1063Nfs*5 frameshift loss of function - predicted TET2 T1063Nfs*5 indicates a shift in the reading frame starting at amino acid 1063 and terminating 5 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). T1063Nfs*5 has not been characterized, however, due to the effects of other truncation mutations downstream of T1063 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
T1884A missense loss of function - predicted TET2 T1884A lies within the catalytic domain of the Tet2 protein (PMID: 28242787). T1884A is predicted to confer a loss of function on the Tet2 protein as demonstrated by the lack of WT1 binding and localization to WT1 target genes (PMID: 25601757).
V1006Gfs*3 frameshift loss of function - predicted TET2 V1006Gfs*3 indicates a shift in the reading frame starting at amino acid 1006 and terminating 3 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). V1006Gfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of V1006 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
V1718L missense unknown TET2 V1718L lies within the catalytic domain of the Tet2 protein (PMID: 28242787). V1718L has been identified in sequencing studies (PMID: 24433485, PMID: 23781511), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).
W1198* nonsense loss of function - predicted TET2 W1198* results in a premature truncation of the Tet2 protein at amino acid 1198 of 2002 (UniProt.org). W1198* has not been characterized however, due to the effects of other truncation mutations downstream of W1198* (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
W1291R missense loss of function TET2 W1291R lies within the DNA-interacting region of the Tet2 protein (UniProt.org). W1291R results in a loss of Tet2 enzymatic activity in a cell free assay (PMID: 24315485) and the conserved position in mouse Tet2 is unable to convert 5mC to 5hmC (PMID: 21057493).
W1291_N1296delinsGGSGGS indel loss of function - predicted TET2 W1291_N1296delinsGGSGGS results in a deletion of six amino acids in the DNA-interacting region of the Tet2 protein combined with the insertion of six new amino acids in the same location (UniProt.org). W1291_N1296delinsGGSGGS is predicted to confer a loss of function on the Tet2 protein as demonstrated by loss of enzymatic activity (PMID: 24315485).
wild-type none no effect Wild-type TET2 indicates that no mutations have been detected within the TET2 gene.
Y1294A missense unknown TET2 Y1294A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). Y1294A results in a significant decrease in Tet2 enzymatic activity in conjunction with M1293A in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2021).
Y1295A missense unknown TET2 Y1295A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). Y1295A results in a minor decrease in Tet2 enzymatic activity in conjunction with S1290A in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, the effect on Tet2 protein function is unknown (PubMed, Apr 2021).
Y1902A missense loss of function - predicted TET2 Y1902A lies within the substrate-binding region of the Tet2 protein (UniProt.org). Y1902A abolishes Tet2 catalytic activity in an in vitro assay (PMID: 30028600) and therefore, is predicted to lead to a loss of Tet2 protein function.
Y867H missense unknown TET2 Y867H does not lie within any known functional domains of the Tet2 protein (UniProt.org). Y867H has been identified in the scientific literature (PMID: 26984174, PMID: 32577167), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Apr 2021).