Gene Gene information from NCBI Gene database.
Entrez ID 6427
Gene name Serine and arginine rich splicing factor 2
Gene symbol SRSF2
Synonyms (NCBI Gene)
PR264SC-35SC35SFRS2SFRS2ASRp30b
Chromosome 17
Chromosome location 17q25.1
Summary 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.
545
miRTarBase ID miRNA Experiments Reference
MIRT004404 hsa-miR-34b-5p ReviewMicroarray 19461653
MIRT004405 hsa-miR-34c-5p ReviewMicroarray 19461653
MIRT004741 hsa-miR-183-5p ImmunoblotMicroarrayqRT-PCR 19711202
MIRT020317 hsa-miR-130b-3p Sequencing 20371350
MIRT020895 hsa-miR-155-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003714 Function Transcription corepressor activity NAS 15652350
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600813 10783 ENSG00000161547
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute megakaryoblastic leukemia in down syndrome Likely pathogenic rs751713049 RCV001293765
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia Pathogenic rs751713049 RCV003234604
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical chronic myeloid leukemia, BCR-ABL1 negative Pathogenic rs751713049 RCV003232903
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC MYELOMONOCYTIC LEUKEMIA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 15798212 Associate
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23280334
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 29417354, 31340059
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23071587
★☆☆☆☆
Found in Text Mining only
Aggressive systemic mastocytosis Systemic Mastocytosis Orphanet
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 20615469
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 24866055 Associate
★☆☆☆☆
Found in Text Mining only
AMYOTROPHY, HEREDITARY NEURALGIC Hereditary Neuralgic Amyotrophy BEFREE 10088036
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 22919025 Associate
★☆☆☆☆
Found in Text Mining only