SRSF2 serine and arginine rich splicing factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRSF2provided by HGNC
Official Full Name: serine and arginine rich splicing factor 2provided by HGNC
Primary source: HGNC:HGNC:10783
See related: Ensembl:ENSG00000161547 MIM:600813; AllianceGenome:HGNC:10783
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SC35; PR264; SC-35; SFRS2; SFRS2A; SRp30b
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 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]
Expression: Ubiquitous expression in bone marrow (RPKM 91.7), lymph node (RPKM 69.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (76734115..76737411, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (77631102..77634398, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (74730197..74733413, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Perturb mRNA Splicing through Aberrant Interactions with SRSF2.
Title: Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Perturb mRNA Splicing through Aberrant Interactions with SRSF2.
A mitochondrial surveillance mechanism activated by SRSF2 mutations in hematologic malignancies.
Title: A mitochondrial surveillance mechanism activated by SRSF2 mutations in hematologic malignancies.
[SRSF2 promotes glioblastoma cell proliferation by inducing alternative splicing of FSP1 and inhibiting ferroptosis].
Title: [SRSF2 promotes glioblastoma cell proliferation by inducing alternative splicing of FSP1 and inhibiting ferroptosis].
SRSF2 plays an unexpected role as reader of m[5]C on mRNA, linking epitranscriptomics to cancer.
Title: SRSF2 plays an unexpected role as reader of m(5)C on mRNA, linking epitranscriptomics to cancer.
SRSF2 is required for mRNA splicing during spermatogenesis.
Title: SRSF2 is required for mRNA splicing during spermatogenesis.
Clinical and prognostic profile of SRSF2 and related spliceosome mutations in patients with acute myeloid leukemia.
Title: Clinical and prognostic profile of SRSF2 and related spliceosome mutations in patients with acute myeloid leukemia.
Co-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/ myeloproliferative neoplasm with neutrophilia.
Title: Co-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/ myeloproliferative neoplasm with neutrophilia.
Serine-arginine splicing factor 2 promotes oesophageal cancer progression by regulating alternative splicing of interferon regulatory factor 3.
Title: Serine-arginine splicing factor 2 promotes oesophageal cancer progression by regulating alternative splicing of interferon regulatory factor 3.
Clinicopathologic spectrum of myeloid neoplasms with concurrent myeloproliferative neoplasm driver mutations and SRSF2 mutations.
Title: Clinicopathologic spectrum of myeloid neoplasms with concurrent myeloproliferative neoplasm driver mutations and SRSF2 mutations.
Genome-wide screening identifies cell-cycle control as a synthetic lethal pathway with SRSF2P95H mutation.
Title: Genome-wide screening identifies cell-cycle control as a synthetic lethal pathway with SRSF2P95H mutation.

Submit: New GeneRIF Correction See all GeneRIFs (116)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic loci for retinal arteriolar microcirculation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of serine/arginine-rich splicing factor 2 (SRSF2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	SC-35 has been shown to inhibit Rev function in a dose-dependent fashion	PubMed
	rev	The splicing inhibitory function of Rev has been associated with Rev localization to subnuclear compartments containing the splicing factor SC-35	PubMed
Tat	tat	HIV-1 Tat increases phosphorylation of SRSF2 in human SH-SY5Y (neuroblastoma cell line)	PubMed
	tat	SRSF2 and SRSF6 cooperatively activate HIV-1 Tat-specific 3'ss A3 site, either through two separate required mechanisms or by stabilizing each other on their respective target sequences	PubMed
	tat	Serine/arginine-rich splicing factor 2 (SRSF2) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
	tat	SRSF2 (serine/arginine-rich splicing factor 2) inhibits HIV-1 Tat-mediated transactivation activity in HEK293 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12848 (e-PCR)
- UniSTS:8229

A004Z40 (e-PCR)
- UniSTS:76335

D4S2570E (e-PCR)
- UniSTS:58217

SHGC-132110 (e-PCR)
- UniSTS:170653

RH11488 (e-PCR)
- UniSTS:19650

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables pre-mRNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	IEA Inferred from Electronic Annotation more info
enables transcription corepressor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of alternative mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to vitamin E	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
NOT located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in interchromatin granule	IEA Inferred from Electronic Annotation more info
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perichromatin fibrils	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: serine/arginine-rich splicing factor 2

Names: SR splicing factor 2; splicing component, 35 kDa; splicing factor SC35; splicing factor, arginine/serine-rich 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032905.1 RefSeqGene

Range

5001..8297

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_640

mRNA and Protein(s)

NM_001195427.2 → NP_001182356.1 serine/arginine-rich splicing factor 2

See identical proteins and their annotated locations for NP_001182356.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC005837

Consensus CDS

CCDS11749.1

UniProtKB/Swiss-Prot

B3KWD5, B4DN89, H0YG49, Q01130

UniProtKB/TrEMBL

Q53FN0

Related

ENSP00000353089.5, ENST00000359995.10

Conserved Domains (1) summary

cd12311
Location:16 → 88

RRM_SRSF2_SRSF8; RNA recognition motif (RRM) found in serine/arginine-rich splicing factor SRSF2, SRSF8 and similar proteins
NM_003016.5 → NP_003007.2 serine/arginine-rich splicing factor 2

See identical proteins and their annotated locations for NP_003007.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC005837

Consensus CDS

CCDS11749.1

UniProtKB/Swiss-Prot

B3KWD5, B4DN89, H0YG49, Q01130

UniProtKB/TrEMBL

Q53FN0

Related

ENSP00000376276.2, ENST00000392485.2

Conserved Domains (1) summary

cd12311
Location:16 → 88

RRM_SRSF2_SRSF8; RNA recognition motif (RRM) found in serine/arginine-rich splicing factor SRSF2, SRSF8 and similar proteins

RNA

NR_036608.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Translation of this transcript would result in it being a candidate for nonsense-mediated mRNA decay (NMD), so it is not thought that this transcript encodes a protein.

Source sequence(s)

AC005837