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Gene Symbol ZRSR2
Synonyms U2AF1-RS2 | U2AF1L2 | U2AF1RS2 | URP | ZC3H22
Gene Description ZRSR2, zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2, is a component of the splicesome that functions in 3' splice site recognition, therefore regulates expression of E2F transcription factors and genes in the Mapk/Erk pathways (PMID: 21041408, PMID: 25586593). ZRSR2 mutations are associated with myelodysplastic syndromes and acute myeloid leukemia, particularly in males (PMID: 21909114, PMID: 26769228).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
8233 X Xp22.2 NM_005089 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A2D missense unknown ZRSR2 A2D does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). A2D has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
A310T missense unknown ZRSR2 A310T lies within the C3H1-type zinc finger domain 2 of the Zrsr2 protein (UniProt.org). A310T has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
A342S missense unknown ZRSR2 A342S does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). A342S has not been characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
D220A missense unknown ZRSR2 D220A lies within the RRM domain of the Zrsr2 protein (UniProt.org). D220A has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
D432_R435del deletion unknown ZRSR2 D432_R435del results in the deletion of four amino acids of the Zrsr2 protein from amino acids 432 to 435 (UniProt.org). D432_R435del has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
E101* nonsense loss of function - predicted ZRSR2 E101* results in a premature truncation of the Zrsr2 protein at amino acid 101 of 482 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E101* is predicted to lead to a loss of Zrsr2 protein function.
E123D missense unknown ZRSR2 E123D does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). E123D has not been characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
E246K missense unknown ZRSR2 E246K lies within the RRM domain of the Zrsr2 protein (UniProt.org). E246K has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
E48K missense unknown ZRSR2 E48K does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). E48K has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
E93K missense unknown ZRSR2 E93K does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). E93K has been identified in sequencing studies (PMID: 24469795), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
G150D missense unknown ZRSR2 G150D does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). G150D has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
G323* nonsense unknown ZRSR2 G323* results in a premature truncation of the Zrsr2 protein at amino acid 323 of 482 (UniProt.org). G323* has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
G404R missense unknown ZRSR2 G404R does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). G404R has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
G404V missense unknown ZRSR2 G404V does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). G404V has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
G465D missense unknown ZRSR2 G465D does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). G465D has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
H15N missense unknown ZRSR2 H15N does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). H15N has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
H402Y missense unknown ZRSR2 H402Y does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). H402Y has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
inact mut unknown loss of function ZRSR2 inact mut indicates that this variant results in a loss of function of the Zrsr2 protein. However, the specific amino acid change has not been identified.
K28fs frameshift loss of function - predicted ZRSR2 K28fs results in a change in the amino acid sequence of the Zrsr2 protein beginning at aa 28 of 482, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K28fs is predicted to lead to a loss of Zrsr2 protein function.
K81* nonsense loss of function - predicted ZRSR2 K81* results in a premature truncation of the Zrsr2 protein at amino acid 81 of 482 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K81* is predicted to lead to a loss of Zrsr2 protein function.
mutant unknown unknown ZRSR2 mutant indicates an unspecified mutation in the ZRSR2 gene.
P303S missense unknown ZRSR2 P303S lies within the RRM domain of the Zrsr2 protein (UniProt.org). P303S has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
Q255H missense unknown ZRSR2 Q255H lies within the RRM domain of the Zrsr2 protein (UniProt.org). Q255H has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
Q56H missense unknown ZRSR2 Q56H does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). Q56H has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
Q69E missense unknown ZRSR2 Q69E does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). Q69E has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R126* nonsense loss of function - predicted ZRSR2 R126* results in a premature truncation of the Zrsr2 protein at amino acid 126 of 482 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R126* is predicted to lead to a loss of Zrsr2 protein function.
R216M missense unknown ZRSR2 R216M lies within the RRM domain of the Zrsr2 protein (UniProt.org). R216M has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R27Q missense unknown ZRSR2 R27Q does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). R27Q has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R306M missense unknown ZRSR2 R306M lies within the C3H1-type zinc finger domain 2 of the Zrsr2 protein (UniProt.org). R306M has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R352Q missense unknown ZRSR2 R352Q does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). R352Q has been identified in sequencing studies (PMID: 21179087), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R397K missense unknown ZRSR2 R397K does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). R397K has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R397W missense unknown ZRSR2 R397W does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). R397W has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R401C missense unknown ZRSR2 R401C does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). R401C has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R437Q missense unknown ZRSR2 R437Q does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). R437Q has not been characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
R70S missense unknown ZRSR2 R70S does not lie within any known functional domains of the Zrsr2 protein (UniProt.org). R70S has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
S276L missense unknown ZRSR2 S276L lies within the RRM domain of the Zrsr2 protein (UniProt.org). S276L has not been characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
S43* nonsense loss of function - predicted ZRSR2 S43* results in a premature truncation of the Zrsr2 protein at amino acid 43 of 482 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S43* is predicted to lead to a loss of Zrsr2 protein function.
S447_R448del deletion unknown ZRSR2 S447_R448del results in the deletion of two amino acids in the Zrsr2 protein from amino acids 447 to 448 (UniProt.org). S447_R448del has been identified in sequencing studies (PMID: 30279230), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
V270E missense unknown ZRSR2 V270E lies within the RRM domain of the Zrsr2 protein (UniProt.org). V270E has not been characterized in the scientific literature and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
V304M missense unknown ZRSR2 V304M lies within the RRM domain of the Zrsr2 protein (UniProt.org). V304M has been identified in the scientific literature (PMID: 24434863, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Zrsr2 protein function is unknown (PubMed, Mar 2020).
W153* nonsense loss of function - predicted ZRSR2 W153* results in a premature truncation of the Zrsr2 protein at amino acid 153 of 482 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W153* is predicted to lead to a loss of Zrsr2 protein function.
wild-type none no effect Wild-type ZRSR2 indicates that no mutation has been detected within the ZRSR2 gene.