SRSF2 (serine and arginine rich splicing factor 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6427 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Serine and arginine rich splicing factor 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SRSF2 |
SynonymsGene synonyms aliases
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PR264, SC-35, SC35, SFRS2, SFRS2A, SRp30b |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q25.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
IBA |
21873635 |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
TAS |
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GO:0003714 |
Function |
Transcription corepressor activity |
NAS |
15652350 |
GO:0003723 |
Function |
RNA binding |
HDA |
22658674, 22681889 |
GO:0003723 |
Function |
RNA binding |
IBA |
21873635 |
GO:0005515 |
Function |
Protein binding |
IPI |
9237760, 9447963, 15652350, 18559666, 21157427, 21296756, 21504830, 22365833 |
GO:0005634 |
Component |
Nucleus |
IDA |
15652350, 15988025, 17494991, 19734146, 21653549 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
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GO:0005654 |
Component |
Nucleoplasm |
TAS |
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GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005829 |
Component |
Cytosol |
IDA |
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GO:0006397 |
Process |
MRNA processing |
TAS |
8530103 |
GO:0006405 |
Process |
RNA export from nucleus |
TAS |
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GO:0006406 |
Process |
MRNA export from nucleus |
TAS |
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GO:0008380 |
Process |
RNA splicing |
TAS |
8530103 |
GO:0016605 |
Component |
PML body |
IDA |
15652350 |
GO:0016607 |
Component |
Nuclear speck |
IBA |
21873635 |
GO:0016607 |
Component |
Nuclear speck |
IDA |
12799190, 15798186, 21984414, 23562910 |
GO:0016607 |
Component |
Nuclear speck |
TAS |
28377597 |
GO:0031124 |
Process |
MRNA 3'-end processing |
TAS |
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GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
IEA |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q01130 |
Protein name |
Serine/arginine-rich splicing factor 2 (Protein PR264) (Splicing component, 35 kDa) (Splicing factor SC35) (SC-35) (Splicing factor, arginine/serine-rich 2) |
Protein function |
Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is requ |
PDB |
2KN4
,
2LEA
,
2LEB
,
2LEC
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00076 |
RRM_1 |
16 → 86 |
RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) |
Domain |
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Sequence |
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Sequence length |
221 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Carcinoma |
Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
16316942 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
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Non-hodgkin lymphoma |
Lymphoma, Non-Hodgkin |
rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820 |
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Myelodysplasia |
Myelodysplasia |
rs141601766, rs1261178797 |
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Myelodysplastic syndrome |
MYELODYSPLASTIC SYNDROME |
rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587 |
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Myelomonocytic leukemia |
Leukemia, Myelomonocytic, Chronic, Chronic myelomonocytic leukemia |
rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641, rs199474747, rs199474728, rs199474781, rs587781807, rs727504426, rs786203950, rs786202782, rs1321848637, rs786202457, rs786204157, rs267606599, rs1555535032, rs864622161, rs878853865, rs199474737, rs199474742, rs1057518904, rs771820789, rs1057518974, rs1057518807, rs1057521098, rs1057521848, rs1060500273, rs376576925, rs1060500356, rs1060500363, rs1060500245, rs1060500387, rs1064794278, rs1085307819, rs753245823, rs1135402868, rs1135402894, rs1555610893, rs1555610881, rs771115661, rs1555614453, rs753529924, rs1555618572, rs1555534697, rs1555610905, rs1555613543, rs1131691105, rs1555534893, rs1060500376, rs1060500355, rs1567845945, rs1567817974, rs1567818033, rs1597713360, rs1555614462, rs137854553, rs1597831990, rs1597858459, rs1597858594, rs876657932, rs1597681200, rs1597866846, rs1597710409, rs2066138676, rs2066507116, rs2066874267, rs2066874810, rs1555614354, rs786202177, rs2069448326, rs2069793099, rs863224445 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anaplastic carcinoma |
Anaplastic carcinoma |
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16316942 |
Eosinophilia |
Eosinophilia |
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Lymphocytic leukemia |
Chronic Lymphocytic Leukemia |
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Mastocytosis |
Mastocytosis |
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Myeloid leukemia |
Myeloid Leukemia, Chronic |
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Progressive supranuclear ophthalmoplegia |
Ophthalmoplegia, Progressive Supranuclear |
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25402454 |
Progressive supranuclear palsy |
Progressive supranuclear palsy |
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25402454 |
Supranuclear palsy |
Supranuclear Palsy, Progressive, 1 |
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25402454 |
Systemic mastocytosis |
Aggressive systemic mastocytosis |
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Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease |
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease |
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25567135 |
Systemic mastocytosis with associated hematologic neoplasm |
Systemic mastocytosis with associated hematologic neoplasm |
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