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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
54790 4 4q24 NM_001127208 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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). D1143fs has not been characterized however, due to the effects of other truncation mutations downstream of D1143 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
D162fs frameshift loss of function - predicted TET2 D162fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 162 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). D162fs has not been characterized, however, due to the effects of other truncation mutations downstream of D162 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
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). I812fs has not been characterized however, due to the effects of other truncation mutations downstream of I812 (PMID: 24994606), 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). K1171fs has not been characterized however, due to the effects of other truncation mutations downstream of K1171 (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). K67fs has not been characterized however, due to the effects of other truncation mutations downstream of K67 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
mutant unknown unknown TET2 mutant indicates an unspecified mutation in the TET2 gene.
Q317fs frameshift loss of function - predicted TET2 Q317fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 317 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). Q317fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q317 (PMID: 24994606), 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.
R1440fs frameshift loss of function - predicted TET2 R1440fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 1440 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). R1440fs has not been characterized however, due to the effects of other truncation mutations downstream of R1440 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.