Gene Detail

Gene Symbol SRSF2
Synonyms PR264 | SC-35 | SC35 | SFRS2 | SFRS2A | SRp30b
Gene Description SRSF2, serine/arginine-rich splicing factor 2, functions in exon recognition as part of the spiceosome protein complex during pre-mRNA splicing, therefore regulates the expression of EZH2 and other genes involved in cell survival (PMID: 28986033). SRSFR2 mutations that disrupt mRNA splicing (PMID: 29858584) have been identified in myelodysplastic syndrome and other myeloid malignancies (PMID: 24523246, PMID: 25510282, PMID: 30275952).
Entrez Id 6427
Chromosome 17
Map Location 17q25.1
Canonical Transcript NM_001195427

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
R205L missense unknown SRSF2 R205L does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R205L has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
Y37C missense unknown SRSF2 Y37C lies within the RRM domain of the Srsf2 protein (UniProt.org). Y37C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
R167L missense unknown SRSF2 R167L does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R167L has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
T51I missense unknown SRSF2 T51I lies within the RRM domain of the Srsf2 protein (UniProt.org). T51I has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
S171Y missense unknown SRSF2 S171Y does not lie within any known functional domains of the Srsf2 protein (UniProt.org). S171Y has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
S136C missense unknown SRSF2 S136C does not lie within any known functional domains of the Srsf2 protein (UniProt.org). S136C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
mutant unknown unknown SRSF2 mutant indicates an unspecified mutation in the SRSF2 gene.
S179C missense unknown SRSF2 S179C does not lie within any known functional domains of the Srsf2 protein (UniProt.org). S179C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
del none loss of function SRSF2 del indicates a deletion of the SRSF2 gene.
Y92_H99del deletion unknown SRSF2 Y92_H99del results in the deletion of 8 amino acids of the Srsf2 protein from amino acids 92 to 99 (UniProt.org). Y92_H99del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
R129* nonsense unknown SRSF2 R129* results in a premature truncation of the Srsf2 protein at amino acid 129 of 221 (UniProt.org). R129* has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
P95X missense unknown SRSF2 P95X indicates any Srsf2 missense mutation that results in replacement of the proline (P) at amino acid 95 by a different amino acid.
R123W missense unknown SRSF2 R123W does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R123W has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
M13I missense unknown SRSF2 M13I does not lie within any known functional domains of the Srsf2 protein (UniProt.org). M13I has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
K172_S173del deletion unknown SRSF2 K172_S173del results in the deletion of two amino acids of the Srsf2 protein from amino acids 172 to 173 (UniProt.org). K172_S173del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
Y92_H100del deletion unknown SRSF2 Y92_H100del results in the deletion of 9 amino acids of the Srsf2 protein from amino acids 92 to 100 (UniProt.org). Y92_H100del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
V195L missense unknown SRSF2 V195L does not lie within any known functional domains of the Srsf2 protein (UniProt.org). V195L has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
P209T missense unknown SRSF2 P209T does not lie within any known functional domains of the Srsf2 protein (UniProt.org). P209T has not been characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
P96Rfs*136 frameshift unknown SRSF2 P96Rfs*136 indicates a shift in the reading frame starting at amino acid 96 and terminating 136 residues downstream causing a premature truncation of the 221 amino acid Srsf2 protein (UniProt.org). P96Rfs*136 has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
S220C missense unknown SRSF2 S220C does not lie within any known functional domains of the Srsf2 protein (UniProt.org). S220C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
E35Q missense unknown SRSF2 E35Q lies within the RRM domain of the Srsf2 protein (UniProt.org). E35Q has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
P95H missense unknown SRSF2 P95H is a hotspot mutation that lies within the linker region between the RRM and RS domains of the Srsf2 protein (PMID: 26261309). P95H results in altered binding affinity of Srsf2 to specfic RNA sites, and leads to disrupted regulation of splicing events (PMID: 26261309), but results in similar cell proliferation and viability levels as wild-type Srsf2 (PMID: 29533785).
R168K missense unknown SRSF2 R168K does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R168K has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
R129L missense unknown SRSF2 R129L does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R129L has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
K52N missense unknown SRSF2 K52N lies within the RRM domain of the Srsf2 protein (UniProt.org). K52N has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
M1? missense loss of function - predicted SRSF2 M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Srsf2 protein. M1? has not been characterized and therefore, its effect on Srsf1 protein function is unknown (PubMed, May 2016).
R129G missense unknown SRSF2 R129G does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R129G has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
S174_S179del deletion unknown SRSF2 S174_S179del results in the deletion of 6 amino acids of the Srsf2 protein from amino acids 174 to 179 (UniProt.org). S174_S179del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
Y44H missense unknown SRSF2 Y44H lies within the RRM domain of the Srsf2 protein (UniProt.org). Y44H has not been characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
R152_S159del deletion unknown SRSF2 R152_S159del results in the deletion of 8 amino acids of the Srsf2 protein from amino acids 152 to 159 (UniProt.org). R152_S159del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
S15F missense unknown SRSF2 S15F lies within the RRM domain of the Srsf2 protein (UniProt.org). S15F has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
G104E missense unknown SRSF2 G104E does not lie within any known functional domains of the Srsf2 protein (UniProt.org). G104E has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
P95R missense no effect - predicted SRSF2 P95R is within a hotspot mutation location that lies within the linker region between the RRM and RS domains of the Srsf2 protein (PMID: 26261309). P95R has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Srsf2 (PMID: 29533785).
amp none no effect SRSF2 amplification indicates an increased number of copies of the SRSF2 gene. However, the mechanism causing the increase is unspecified.
Y110C missense unknown SRSF2 Y110C does not lie within any known functional domains of the Srsf2 protein (UniProt.org). Y110C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
inact mut unknown loss of function SRSF2 inact mut indicates that this variant results in a loss of function of the Srsf2 protein. However, the specific amino acid change has not been identified.
E69G missense unknown SRSF2 E69G lies within the RRM domain of the Srsf2 protein (UniProt.org). E69G has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
P95_R102del deletion no effect - predicted SRSF2 P95_R102del results in the deletion of 8 amino acids of the Srsf2 protein from amino acids 95 to 102 (UniProt.org). P95_R102del has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Srsf2 (PMID: 29533785).
S187Y missense unknown SRSF2 S187Y does not lie within any known functional domains of the Srsf2 protein (UniProt.org). S187Y has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
E69K missense unknown SRSF2 E69K lies within the RRM domain of the Srsf2 protein (UniProt.org). E69K has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
K207* nonsense unknown SRSF2 K207* results in a premature truncation of the Srsf2 protein at amino acid 207 of 221 (UniProt.org). K207* has not been characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
R167Q missense unknown SRSF2 R167Q does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R167Q has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Feb 2018).
Molecular Profile Protein Effect Treatment Approaches
SRSF2 R205L unknown
SRSF2 Y37C unknown
SRSF2 R167L unknown
SRSF2 T51I unknown
SRSF2 S171Y unknown
SRSF2 S136C unknown
SRSF2 mutant unknown
SRSF2 S179C unknown
SRSF2 del loss of function
SRSF2 Y92_H99del unknown
SRSF2 R129* unknown
SRSF2 P95X unknown
SRSF2 R123W unknown
SRSF2 M13I unknown
SRSF2 K172_S173del unknown
SRSF2 Y92_H100del unknown
SRSF2 V195L unknown
SRSF2 P209T unknown
SRSF2 P96Rfs*136 unknown
SRSF2 S220C unknown
SRSF2 E35Q unknown
KMT2A-MLLT3 SRSF2 P95H
SRSF2 P95H unknown
SRSF2 R168K unknown
SRSF2 R129L unknown
SRSF2 K52N unknown
SRSF2 M1? loss of function - predicted
SRSF2 R129G unknown
SRSF2 S174_S179del unknown
SRSF2 Y44H unknown
SRSF2 R152_S159del unknown
SRSF2 S15F unknown
SRSF2 G104E unknown
SRSF2 P95R no effect - predicted
SRSF2 amp no effect
SRSF2 Y110C unknown
SRSF2 inact mut loss of function
SRSF2 E69G unknown
SRSF2 P95_R102del no effect - predicted
SRSF2 S187Y unknown
SRSF2 E69K unknown
SRSF2 K207* unknown
SRSF2 R167Q unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
SRSF2 mutant myelofibrosis not applicable N/A Guideline Prognostic SRSF2 mutations are associated with inferior overall survival and leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
SRSF2 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, SRSF2 mutations were associated with shortened survival in patients with myelodysplastic syndrome (PMID: 26769228, PMID: 26508027). 26508027 26769228
SRSF2 P95X myelodysplastic syndrome not applicable N/A Guideline Prognostic SRSF2 P95X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
KMT2A-MLLT3 SRSF2 P95H acute myeloid leukemia sensitive H3B-8800 Preclinical Actionable In a preclinical study, H3B-8800 inhibited tumor growth in transplant animal models of mouse acute myeloid leukemia cells harboring SRSF2 P95H and KMT2A-MLLT3 (MLL-AF9) while had no effect in SRSF2 wild-type controls (Blood 2016 128:966). detail...