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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10992
Gene name	Splicing factor 3b subunit 2
Gene symbol	SF3B2
Synonyms (NCBI Gene)	CFMCus1HFMSAP145SF3B145SF3b1SF3b150
Chromosome	11
Chromosome location	11q13.1
Summary	This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519959	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519960	A>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029398	hsa-miR-26b-5p	Microarray	19088304
MIRT043738	hsa-miR-342-3p	CLASH	23622248
MIRT043563	hsa-miR-331-3p	CLASH	23622248
MIRT043182	hsa-miR-324-5p	CLASH	23622248
MIRT041928	hsa-miR-484	CLASH	23622248
MIRT041282	hsa-miR-193b-3p	CLASH	23622248
MIRT040893	hsa-miR-18a-3p	CLASH	23622248
MIRT039791	hsa-miR-615-3p	CLASH	23622248
MIRT038862	hsa-miR-93-3p	CLASH	23622248
MIRT036927	hsa-miR-877-3p	CLASH	23622248
MIRT731218	hsa-miR-3189-3p	qRT-PCRLuciferase reporter assayWestern blot	25645911
MIRT731218	hsa-miR-3189-3p	qRT-PCRLuciferase reporter assayWestern blot	25645911
MIRT1341236	hsa-miR-1292	CLIP-seq
MIRT1341237	hsa-miR-1296	CLIP-seq
MIRT1341238	hsa-miR-203	CLIP-seq
MIRT1341239	hsa-miR-3124-3p	CLIP-seq
MIRT1341240	hsa-miR-3153	CLIP-seq
MIRT1341241	hsa-miR-3613-3p	CLIP-seq
MIRT1341242	hsa-miR-3926	CLIP-seq
MIRT1341243	hsa-miR-4261	CLIP-seq
MIRT1341244	hsa-miR-4471	CLIP-seq
MIRT1341245	hsa-miR-4512	CLIP-seq
MIRT1341246	hsa-miR-4645-5p	CLIP-seq
MIRT1341247	hsa-miR-4668-5p	CLIP-seq
MIRT1341248	hsa-miR-4673	CLIP-seq
MIRT1341249	hsa-miR-4699-3p	CLIP-seq
MIRT1341250	hsa-miR-4734	CLIP-seq
MIRT1341251	hsa-miR-502-5p	CLIP-seq
MIRT1341252	hsa-miR-520d-5p	CLIP-seq
MIRT1341253	hsa-miR-524-5p	CLIP-seq
MIRT1341254	hsa-miR-578	CLIP-seq
MIRT1341255	hsa-miR-581	CLIP-seq
MIRT1341256	hsa-miR-648	CLIP-seq
MIRT1341257	hsa-miR-876-3p	CLIP-seq
MIRT1341238	hsa-miR-203	CLIP-seq
MIRT1341239	hsa-miR-3124-3p	CLIP-seq
MIRT1341240	hsa-miR-3153	CLIP-seq
MIRT1341243	hsa-miR-4261	CLIP-seq
MIRT2100992	hsa-miR-4511	CLIP-seq
MIRT1341247	hsa-miR-4668-5p	CLIP-seq
MIRT1341249	hsa-miR-4699-3p	CLIP-seq
MIRT1341251	hsa-miR-502-5p	CLIP-seq
MIRT1341252	hsa-miR-520d-5p	CLIP-seq
MIRT1341253	hsa-miR-524-5p	CLIP-seq
MIRT2100993	hsa-miR-548b-3p	CLIP-seq
MIRT1341236	hsa-miR-1292	CLIP-seq
MIRT1341237	hsa-miR-1296	CLIP-seq
MIRT2325504	hsa-miR-147	CLIP-seq
MIRT1341239	hsa-miR-3124-3p	CLIP-seq
MIRT1341240	hsa-miR-3153	CLIP-seq
MIRT1341241	hsa-miR-3613-3p	CLIP-seq
MIRT1341242	hsa-miR-3926	CLIP-seq
MIRT1341243	hsa-miR-4261	CLIP-seq
MIRT1341244	hsa-miR-4471	CLIP-seq
MIRT1341245	hsa-miR-4512	CLIP-seq
MIRT1341247	hsa-miR-4668-5p	CLIP-seq
MIRT1341249	hsa-miR-4699-3p	CLIP-seq
MIRT1341250	hsa-miR-4734	CLIP-seq
MIRT2325505	hsa-miR-4753-3p	CLIP-seq
MIRT1341251	hsa-miR-502-5p	CLIP-seq
MIRT1341252	hsa-miR-520d-5p	CLIP-seq
MIRT1341253	hsa-miR-524-5p	CLIP-seq
MIRT1341254	hsa-miR-578	CLIP-seq
MIRT1341255	hsa-miR-581	CLIP-seq
MIRT2325506	hsa-miR-664	CLIP-seq
MIRT1341257	hsa-miR-876-3p	CLIP-seq
MIRT1341236	hsa-miR-1292	CLIP-seq
MIRT1341237	hsa-miR-1296	CLIP-seq
MIRT2325504	hsa-miR-147	CLIP-seq
MIRT2621193	hsa-miR-3611	CLIP-seq
MIRT1341241	hsa-miR-3613-3p	CLIP-seq
MIRT1341242	hsa-miR-3926	CLIP-seq
MIRT1341244	hsa-miR-4471	CLIP-seq
MIRT1341245	hsa-miR-4512	CLIP-seq
MIRT1341246	hsa-miR-4645-5p	CLIP-seq
MIRT1341248	hsa-miR-4673	CLIP-seq
MIRT1341250	hsa-miR-4734	CLIP-seq
MIRT2621194	hsa-miR-4786-3p	CLIP-seq
MIRT1341254	hsa-miR-578	CLIP-seq
MIRT1341255	hsa-miR-581	CLIP-seq
MIRT1341256	hsa-miR-648	CLIP-seq
MIRT1341257	hsa-miR-876-3p	CLIP-seq
MIRT1341236	hsa-miR-1292	CLIP-seq
MIRT1341237	hsa-miR-1296	CLIP-seq
MIRT2325504	hsa-miR-147	CLIP-seq
MIRT2621193	hsa-miR-3611	CLIP-seq
MIRT1341241	hsa-miR-3613-3p	CLIP-seq
MIRT1341242	hsa-miR-3926	CLIP-seq
MIRT1341244	hsa-miR-4471	CLIP-seq
MIRT1341245	hsa-miR-4512	CLIP-seq
MIRT1341246	hsa-miR-4645-5p	CLIP-seq
MIRT1341248	hsa-miR-4673	CLIP-seq
MIRT1341250	hsa-miR-4734	CLIP-seq
MIRT2621194	hsa-miR-4786-3p	CLIP-seq
MIRT1341254	hsa-miR-578	CLIP-seq
MIRT1341255	hsa-miR-581	CLIP-seq
MIRT1341256	hsa-miR-648	CLIP-seq
MIRT1341257	hsa-miR-876-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529, 11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	27720643, 29360106, 32494006, 34822310, 36797247
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	31744343
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	16189514, 17332742, 22113938, 22365833, 23455924, 24965446, 25737013, 26030138, 27905398, 28514442, 32296183, 32814053, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IDA	27720643, 29360106
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	31744343
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:0005681	Component	Spliceosomal complex	TAS	8566756
GO:0005684	Component	U2-type spliceosomal complex	IBA
GO:0005684	Component	U2-type spliceosomal complex	IDA	32494006, 34822310, 36797247
GO:0005684	Component	U2-type spliceosomal complex	IPI	27720643
GO:0005686	Component	U2 snRNP	IBA
GO:0005686	Component	U2 snRNP	NAS	31744343
GO:0005689	Component	U12-type spliceosomal complex	IBA
GO:0005689	Component	U12-type spliceosomal complex	IDA	15146077
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	8566756
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	8566756
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29360106
GO:0071011	Component	Precatalytic spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343

MIM	HGNC	e!Ensembl
605591	10769	ENSG00000087365

Q13435

Protein name

Splicing factor 3B subunit 2 (Pre-mRNA-splicing factor SF3b 145 kDa subunit) (SF3b145) (Spliceosome-associated protein 145) (SAP 145)

Protein function

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates i

PDB

2DO5 , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF4 , 6FF7 , 6QX9 , 6Y50 , 6Y53 , 6Y5Q , 7ABG , 7ABH , 7ABI , 7DVQ , 7EVO , 7ONB , 7Q3L , 7Q4O , 7Q4P , 7QTT , 7VPX , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8QO9 , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5 , 8Y7E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02037	SAP	24 → 58	SAP domain	Family
PF04037	DUF382	470 → 596	Domain of unknown function (DUF382)	Family
PF04046	PSP	605 → 655	PSP	Family

Sequence

MATEHPEPPKAELQLPPPPPPGHYGAWAAQELQAKLAEIGAPIQGNREELVERLQSYTRQ
TGIVLNRPVLRGEDGDKAAPPPMSAQLPGIPMPPPPLGLPPLQPPPPPPPPPPGLGLGFP
MAHPPNLGPPPPLRVGEPVALSEEERLKLAQQQAALLMQQEERAKQQGDHSLKEHELLEQ
QKRAAVLLEQERQQEIAKMGTPVPRPPQDMGQIGVRTPLGPRVAAPVGPVGPTPTVLPMG
APVPRPRGPPPPPGDENREMDDPSVGPKIPQALEKILQLKESRQEEMNSQQEEEEMETDA
RSSLGQSASETEEDTVSVSKKEKNRKRRNRKKKKKPQRVRGVSSESSGDREKDSTRSRGS
DSPAADVEIEYVTEEPEIYEPNFIFFKRIFEAFKLTDDVKKEKEKEPEKLDKLENSAAPK
KKGFEEEHKDSDDDSSDDEQEKKPEAPKLSKKKLRRMNRFTVAELKQLVARPDVVEMHDV
TAQDPKLLVHLKATRNSVPVPRHWCFKRKYLQGKRGIEKPPFELPDFIKRTGIQEMREAL
QEKEEQKTMKSKMREKVRPKMGKIDIDYQKLHDAFFKWQTKPKLTIHGDLYYEGKEFETR
LKEKKPGDLSDELRISLGMPVGPNAHKVPPPWLIAMQRYGPPPSYPNLKIPGLNSPIPES
CSFGYHAGGWGKPPVDETGKPLYGDVFGTNAAEFQTKTEEEEIDRTPWGELEPSDEESSE
EEEEEESDEDKPDETGFITPADSGLITPGGFSSVPAGMETPELIELRKKKIEEAMDGSET
PQLFTVLPEKRTATVGGAMMGSTHIYDMSTVMSRKGPAPELQGVEVALAPEELELDPMAM
TQKYEEHVREQQAQVEKEDFSDMVAEHAAKQKQKKRKAQPQDSRGGSKKYKEFKF

Sequence length

895

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Craniofacial microsomia 1	Pathogenic	rs2135050433, rs2135051009, rs2135031513, rs2134479545, rs2496000368	RCV004576998 RCV004576999 RCV004577000 RCV004577001 RCV004595073

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
SF3B2-related disorder	Uncertain significance	rs2496012280, rs1857019745	RCV003404189 RCV003406079

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Fetal Alcohol Spectrum Disorders	Associate	37555391
Goldenhar Syndrome	Associate	37555391
Lymphatic Metastasis	Associate	31348270
Prostatic Neoplasms	Associate	31348270
Rectal Neoplasms	Associate	37895091

SF3B2 (splicing factor 3b subunit 2)