SRSF2
Serine/arginine-rich splicing factor 2
Also known as: PR264, SC-35, SC35, SFRS2, SFRS2A, SRSF2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q01130
- Gene
- SRSF2
- Ensembl
- ENSG00000161547
- Chromosome
- 17
- Canonical length
- 221 aa
- Protein class
- Cancer-related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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 binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
221 residues, UniProt reviewed canonical sequence.
>Q01130|SRSF2
1 MSYGRPPPDV EGMTSLKVDN LTYRTSPDTL RRVFEKYGRV GDVYIPRDRY TKESRGFAFV
61 RFHDKRDAED AMDAMDGAVL DGRELRVQMA RYGRPPDSHH SRRGPPPRRY GGGGYGRRSR
121 SPRRRRRSRS RSRSRSRSRS RSRYSRSKSR SRTRSRSRST SKSRSARRSK SKSSSVSRSR
181 SRSRSRSRSR SPPPVSKRES KSRSRSKSPP KSPEEEGAVS SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SRSF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.57
- Highest tissue expression
- 174 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 174 nTPM
- esophagus: 129 nTPM
- spleen: 118 nTPM
- liver: 115 nTPM
- small intestine: 110 nTPM
- adrenal gland: 107 nTPM
Single-cell type
- extravillous trophoblasts: 680 nCPM
- esophageal basal cells: 662 nCPM
- esophageal suprabasal cells: 527 nCPM
- migrating cytotrophoblasts: 526 nCPM
- epididymal basal cells: 494 nCPM
- esophageal apical cells: 457 nCPM
Immune cell
- myeloid DC: 71 nTPM
- intermediate monocyte: 57 nTPM
- plasmacytoid DC: 52 nTPM
- classical monocyte: 45 nTPM
- NK-cell: 38 nTPM
- non-classical monocyte: 36 nTPM
Brain region
- choroid plexus: 62 nTPM
- white matter: 59 nTPM
- cerebral cortex: 53 nTPM
- hypothalamus: 51 nTPM
- medulla oblongata: 49 nTPM
- spinal cord: 47 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SRSF2.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 18 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Acute megakaryoblastic leukemia in down syndrome
- Atypical chronic myeloid leukemia, BCR-ABL1 negative
- Acute myeloid leukemia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.81
- gnomAD pLI
- 0.48
- gnomAD missense Z
- 2.71
- DepMap mean gene effect
- -2.23
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SRSF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SRSF2 as an antibody target. Whether an autoantibody or antibody against SRSF2 could matter depends on whether native SRSF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SRSF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SRSF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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