SF3A2 splicing factor 3a subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SF3A2provided by HGNC
Official Full Name: splicing factor 3a subunit 2provided by HGNC
Primary source: HGNC:HGNC:10766
See related: Ensembl:ENSG00000104897 MIM:600796; AllianceGenome:HGNC:10766
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: PRP11; SAP62; PRPF11; SF3a66
Summary: This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 28.5), ovary (RPKM 22.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2236824..2248655)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2210388..2222298)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2236823..2248654)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

The results indicate that Sf3A2 and Prp31 directly regulate interactions among kinetochores, spindle microtubules and the Ndc80 complex in both Drosophila and human cells.
Title: Splicing factors Sf3A2 and Prp31 have direct roles in mitotic chromosome segregation.
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese
Title: A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
SF3a60, 66, and 120, but not SF1, are essential for pre-mRNA splicing
Title: Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo.

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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
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. 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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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, splicing factor 3a, subunit 2 (SF3A2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with SF3A2 is increased by RRE	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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Homology

Orthologs from Annotation Pipeline: 436 organisms have orthologs with human gene SF3A2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in U2-type prespliceosome assembly	IC Inferred by Curator more info	PubMed
involved_in U2-type prespliceosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA 3'-splice site recognition	TAS Traceable Author Statement more info	PubMed
involved_in mRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in spliceosomal complex assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of U2 snRNP	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of U2 snRNP	IC Inferred by Curator more info	PubMed
part_of U2 snRNP	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type precatalytic spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type prespliceosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of U2-type spliceosomal complex	IPI Inferred from Physical Interaction more info	PubMed
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IC Inferred by Curator more info	PubMed
part_of spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: splicing factor 3A subunit 2

Names: SAP 62; pre-mRNA splicing factor SF3A, subunit 2; spliceosome associated protein 62; splicing factor 3a, subunit 2, 66kD; splicing factor 3a, subunit 2, 66kDa

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.

mRNA and Protein(s)

NM_007165.5 → NP_009096.2 splicing factor 3A subunit 2

See identical proteins and their annotated locations for NP_009096.2

Status: REVIEWED

Source sequence(s)

BC009903, BC015804, BG325385

Consensus CDS

CCDS12084.1

UniProtKB/Swiss-Prot

O75245, Q15428

UniProtKB/TrEMBL

Q05DF2

Related

ENSP00000221494.3, ENST00000221494.10

Conserved Domains (2) summary

COG5246
Location:1 → 217

PRP11; Splicing factor 3a, subunit 2 [RNA processing and modification]

PRK07764
Location:302 → 427

PRK07764; DNA polymerase III subunits gamma and tau; Validated