Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6427
Gene name Gene Name - the full gene name approved by the HGNC.
Serine and arginine rich splicing factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRSF2
Synonyms (NCBI Gene) Gene synonyms aliases
PR264, SC-35, SC35, SFRS2, SFRS2A, SRp30b
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
Summary Summary 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600813 10783 ENSG00000161547
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
Non-hodgkin lymphoma Lymphoma, Non-Hodgkin rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Myelodysplasia Myelodysplasia rs141601766, rs1261178797
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Lactic Associate 15798212
Adenocarcinoma Associate 23071587
Adenocarcinoma of Lung Stimulate 23071587, 40181846
Amelogenesis imperfecta hypoplastic hypomaturation X linked 1 Associate 37563801
Amyotrophic Lateral Sclerosis Associate 24866055
Anemia Associate 22919025
Anemia Refractory with Excess of Blasts Associate 22343920
Arrest of spermatogenesis Associate 37867192
Ataxia Telangiectasia Associate 29395063
Atherosclerosis Associate 25904137