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SRSF2 (serine and arginine rich splicing factor 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6427
Gene nameGene Name - the full gene name approved by the HGNC.
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.
SRSF2
SynonymsGene synonyms aliases
PR264, SC-35, SC35, SFRS2, SFRS2A, SRp30b
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
SummarySummary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004404 hsa-miR-34b-5p Review, Microarray 19461653
MIRT004405 hsa-miR-34c-5p Review, Microarray 19461653
MIRT004741 hsa-miR-183-5p Immunoblot, Microarray, qRT-PCR 19711202
MIRT020317 hsa-miR-130b-3p Sequencing 20371350
MIRT020895 hsa-miR-155-5p Proteomics 18668040
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003714 Function Transcription corepressor activity NAS 15652350
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
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
Sequence
MSYGRPPPDVEGMTSLKVDNLTYRTSPDTLRRVFEKYGRVGDVYIPRDRYTKESRGFAFV
RFHDKRDAEDAMDAMDGAVLDGRELR
VQMARYGRPPDSHHSRRGPPPRRYGGGGYGRRSR
SPRRRRRSRSRSRSRSRSRSRSRYSRSKSRSRTRSRSRSTSKSRSARRSKSKSSSVSRSR
SRSRSRSRSRSPPPVSKRESKSRSRSKSPPKSPEEEGAVSS
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.
 
KEGG
 
Reactome
  Spliceosome
Herpes simplex virus 1 infection
  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases
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
Non-hodgkin lymphoma Lymphoma, Non-Hodgkin rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Myelodysplasia Myelodysplasia rs141601766, rs1261178797
Unknown
Disease name Disease term dbSNP ID References
Anaplastic carcinoma Anaplastic carcinoma 16316942
Eosinophilia Eosinophilia
Lymphocytic leukemia Chronic Lymphocytic Leukemia
Mastocytosis Mastocytosis

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