Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8175
Gene name	Splicing factor 3a subunit 2
Gene symbol	SF3A2
Synonyms (NCBI Gene)	PRP11PRPF11SAP62SF3a66
Chromosome	19
Chromosome location	19p13.3
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 splicin

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miRTarBase ID	miRNA	Experiments
MIRT2100933	hsa-miR-1266	CLIP-seq
MIRT2100934	hsa-miR-1275	CLIP-seq
MIRT2100935	hsa-miR-1276	CLIP-seq
MIRT2100936	hsa-miR-148a	CLIP-seq
MIRT2100937	hsa-miR-148b	CLIP-seq
MIRT2100938	hsa-miR-152	CLIP-seq
MIRT2100939	hsa-miR-2278	CLIP-seq
MIRT2100940	hsa-miR-31	CLIP-seq
MIRT2100941	hsa-miR-3127-5p	CLIP-seq
MIRT2100942	hsa-miR-3153	CLIP-seq
MIRT2100943	hsa-miR-335	CLIP-seq
MIRT2100944	hsa-miR-3614-3p	CLIP-seq
MIRT2100945	hsa-miR-3663-3p	CLIP-seq
MIRT2100946	hsa-miR-3913-3p	CLIP-seq
MIRT2100947	hsa-miR-3918	CLIP-seq
MIRT2100948	hsa-miR-4264	CLIP-seq
MIRT2100949	hsa-miR-4446-3p	CLIP-seq
MIRT2100950	hsa-miR-4492	CLIP-seq
MIRT2100951	hsa-miR-4498	CLIP-seq
MIRT2100952	hsa-miR-4505	CLIP-seq
MIRT2100953	hsa-miR-4518	CLIP-seq
MIRT2100954	hsa-miR-4525	CLIP-seq
MIRT2100955	hsa-miR-4665-5p	CLIP-seq
MIRT2100956	hsa-miR-4668-5p	CLIP-seq
MIRT2100957	hsa-miR-4687-3p	CLIP-seq
MIRT2100958	hsa-miR-4723-5p	CLIP-seq
MIRT2100959	hsa-miR-4731-5p	CLIP-seq
MIRT2100960	hsa-miR-4768-5p	CLIP-seq
MIRT2100961	hsa-miR-4781-5p	CLIP-seq
MIRT2100962	hsa-miR-4797-3p	CLIP-seq
MIRT2100963	hsa-miR-485-5p	CLIP-seq
MIRT2100964	hsa-miR-486-3p	CLIP-seq
MIRT2100965	hsa-miR-510	CLIP-seq
MIRT2100966	hsa-miR-548an	CLIP-seq
MIRT2100967	hsa-miR-625	CLIP-seq
MIRT2100968	hsa-miR-637	CLIP-seq
MIRT2100969	hsa-miR-762	CLIP-seq
MIRT2100970	hsa-miR-942	CLIP-seq
MIRT2100935	hsa-miR-1276	CLIP-seq
MIRT2100939	hsa-miR-2278	CLIP-seq
MIRT2100944	hsa-miR-3614-3p	CLIP-seq
MIRT2100961	hsa-miR-4781-5p	CLIP-seq
MIRT2100964	hsa-miR-486-3p	CLIP-seq
MIRT2100935	hsa-miR-1276	CLIP-seq
MIRT2100939	hsa-miR-2278	CLIP-seq
MIRT2100942	hsa-miR-3153	CLIP-seq
MIRT2100944	hsa-miR-3614-3p	CLIP-seq
MIRT2394275	hsa-miR-378g	CLIP-seq
MIRT2100948	hsa-miR-4264	CLIP-seq
MIRT2100956	hsa-miR-4668-5p	CLIP-seq
MIRT2100960	hsa-miR-4768-5p	CLIP-seq
MIRT2100961	hsa-miR-4781-5p	CLIP-seq
MIRT2100962	hsa-miR-4797-3p	CLIP-seq
MIRT2100964	hsa-miR-486-3p	CLIP-seq
MIRT2100970	hsa-miR-942	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	IBA
GO:0000389	Process	MRNA 3'-splice site recognition	TAS	15647371
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529, 11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	29360106, 32494006, 34822310, 36797247
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	21349847, 31744343
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	17332742, 20467437, 22365833, 24304693, 24981860, 26420826, 28514442, 30021884, 32296183, 33961781, 34819669, 35271311
GO:0005634	Component	Nucleus	IDA	18559850, 21349847, 29360106
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	31744343
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IDA	9731529
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	31744343
GO:0005684	Component	U2-type spliceosomal complex	IDA	32494006, 34822310, 36797247
GO:0005684	Component	U2-type spliceosomal complex	IPI	10882114
GO:0005686	Component	U2 snRNP	IBA
GO:0005686	Component	U2 snRNP	IDA	11533230
GO:0005686	Component	U2 snRNP	NAS	31744343
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	IMP	15647371
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071004	Component	U2-type prespliceosome	IBA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29360106
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:1903241	Process	U2-type prespliceosome assembly	IDA	11533230
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343

MIM	HGNC	e!Ensembl
600796	10766	ENSG00000104897

Q15428

Protein name

Splicing factor 3A subunit 2 (SF3a66) (Spliceosome-associated protein 62) (SAP 62)

Protein function

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:10882114, PubMed:11533230, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) direct

PDB

5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF4 , 6FF7 , 6QX9 , 6Y53 , 6Y5Q , 7ABG , 7ABH , 7ABI , 7EVO , 7ONB , 7Q4O , 7Q4P , 7QTT , 7VPX , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T , 8QO9 , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12874	zf-met	54 → 78		Domain
PF16835	SF3A2	112 → 206	Pre-mRNA-splicing factor SF3a complex subunit 2 (Prp11)	Domain

Sequence

MDFQHRPGGKTGSGGVASSSESNRDRRERLRQLALETIDINKDPYFMKNHLGSYECKLCL
TLHNNEGSYLAHTQGKKHQTNLARRAAKEAKEAPAQPAPEKVKVEVKKFVKIGRPGYKVT
KQRDSEMGQQSLLFQIDYPEIAEGIMPRHRFMSAYEQRIEPPDRRWQYLLMAAEPYETIA
FKVPSREIDKAEGKFWTHWNRETKQFFLQFHFKMEKPPAPPSLPAGPPGVKRPPPPLMNG
LPPRPPLPESLPPPPPGGLPLPPMPPTGPAPSGPPGPPQLPPPAPGVHPPAPVVHPPASG
VHPPAPGVHPPAPGVHPPAPGVHPPTSGVHPPAPGVHPPAPGVHPPAPGVHPPAPGVHPP
APGVHPPPSAGVHPQAPGVHPAAPAVHPQAPGVHPPAPGMHPQAPGVHPQPPGVHPSAPG
VHPQPPGVHPSNPGVHPPTPMPPMLRPPLPSEGPGNIPPPPPTN

Sequence length

464

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
MORBID OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atherosclerosis	Atherosclerosis	Pubtator	24916648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32960377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24916648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24916648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SF3A2 (splicing factor 3a subunit 2)