SRSF2

serine and arginine rich splicing factor 2, the group of RNA binding motif containing|Serine and arginine rich splicing factors|MicroRNA protein coding host genes

Basic information

Region (hg38): 17:76734114-76737333

Previous symbols: [ "SFRS2" ]

Links

ENSG00000161547 ∙ NCBI:6427 ∙ OMIM:600813 ∙ HGNC:10783 ∙ Uniprot:Q01130 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRSF2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRSF2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense		1	4			5
nonsense						0
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	5	2	1

Variants in SRSF2

This is a list of pathogenic ClinVar variants found in the SRSF2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-76736270-C-A		not specified	Uncertain significance (Feb 15, 2023)
17-76736271-G-C		not specified	Uncertain significance (Apr 12, 2023)
17-76736271-GGGACCT-G			Uncertain significance (Jan 19, 2017)
17-76736297-G-C		not specified	Uncertain significance (Sep 06, 2022)
17-76736323-C-T			Likely benign (Mar 01, 2023)
17-76736844-G-A		not specified	Uncertain significance (Oct 03, 2022)
17-76736877-G-A		Atypical chronic myeloid leukemia, BCR-ABL1 negative • Acute myeloid leukemia	Pathogenic (Jun 08, 2023)
17-76736877-G-C		Acute megakaryoblastic leukemia in down syndrome	Likely pathogenic (Sep 01, 2020)
17-76736978-G-A			Likely benign (Feb 01, 2023)
17-76737017-G-A		SRSF2-related disorder	Benign (May 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRSF2	protein_coding	protein_coding	ENST00000392485	2	3260

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.479	0.500	120664	0	1	120665	0.00000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.71	55	148	0.373	0.00000691	1378
Missense in Polyphen		5	33.834	0.14778		318
Synonymous	-2.39	86	62.0	1.39	0.00000283	512
Loss of Function	1.86	1	5.84	0.171	2.66e-7	60

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000929	0.00000929
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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 required for ATP-dependent interactions of both U1 and U2 snRNPs with pre- mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. The phosphorylated form (by SRPK2) is required for cellular apoptosis in response to cisplatin treatment. {ECO:0000269|PubMed:19592491, ECO:0000269|PubMed:21157427}.
• Pathway: Spliceosome - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);mRNA Processing;Gene expression (Transcription);spliceosomal assembly;RNA Polymerase II Transcription;Metabolism of RNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;mRNA Splicing - Major Pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing - Minor Pathway;mRNA Splicing;mRNA 3,-end processing;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.116

Intolerance Scores

• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

• pHI: 0.531
• hipred: Y
• hipred_score: 0.624
• ghis: 0.711

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Mouse Genome Informatics

• Gene name: Srsf2
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); immune system phenotype; endocrine/exocrine gland phenotype; cellular phenotype; muscle phenotype

Gene ontology

• Biological process: regulation of alternative mRNA splicing, via spliceosome;mRNA splicing, via spliceosome;mRNA processing;RNA export from nucleus;mRNA export from nucleus;RNA splicing;mRNA 3'-end processing;mRNA cis splicing, via spliceosome;negative regulation of nucleic acid-templated transcription
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;PML body;nuclear speck
• Molecular function: transcription corepressor activity;RNA binding;protein binding