• Gene id: 10992

Gene Summary

• Gene Symbol: SF3B2   Gene   UCSC   Ensembl
• Aliases: Cus1, SAP145, SF3B145, SF3b1, SF3b150
• Gene name: splicing factor 3b subunit 2
• Alternate names: splicing factor 3B subunit 2, SAP 145, pre-mRNA splicing factor SF3b 145 kDa subunit, spliceosome associated protein 145, splicing factor 3b, subunit 2, 145kD, splicing factor 3b, subunit 2, 145kDa,
• Gene location: 11q13.1 (38664078: 38701516)     Exons: 8     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 605591

Protein Summary

• Protein general information: Q13435  
  • Name: Splicing factor 3B subunit 2 (Pre mRNA splicing factor SF3b 145 kDa subunit) (SF3b145) (Spliceosome associated protein 145) (SAP 145)
  • Length: 895  
  • Mass: 100228
• Sequence:

  MATEHPEPPKAELQLPPPPPPGHYGAWAAQELQAKLAEIGAPIQGNREELVERLQSYTRQTGIVLNRPVLRGEDG
  DKAAPPPMSAQLPGIPMPPPPLGLPPLQPPPPPPPPPPGLGLGFPMAHPPNLGPPPPLRVGEPVALSEEERLKLA
  QQQAALLMQQEERAKQQGDHSLKEHELLEQQKRAAVLLEQERQQEIAKMGTPVPRPPQDMGQIGVRTPLGPRVAA
  PVGPVGPTPTVLPMGAPVPRPRGPPPPPGDENREMDDPSVGPKIPQALEKILQLKESRQEEMNSQQEEEEMETDA
  RSSLGQSASETEEDTVSVSKKEKNRKRRNRKKKKKPQRVRGVSSESSGDREKDSTRSRGSDSPAADVEIEYVTEE
  PEIYEPNFIFFKRIFEAFKLTDDVKKEKEKEPEKLDKLENSAAPKKKGFEEEHKDSDDDSSDDEQEKKPEAPKLS
  KKKLRRMNRFTVAELKQLVARPDVVEMHDVTAQDPKLLVHLKATRNSVPVPRHWCFKRKYLQGKRGIEKPPFELP
  DFIKRTGIQEMREALQEKEEQKTMKSKMREKVRPKMGKIDIDYQKLHDAFFKWQTKPKLTIHGDLYYEGKEFETR
  LKEKKPGDLSDELRISLGMPVGPNAHKVPPPWLIAMQRYGPPPSYPNLKIPGLNSPIPESCSFGYHAGGWGKPPV
  DETGKPLYGDVFGTNAAEFQTKTEEEEIDRTPWGELEPSDEESSEEEEEEESDEDKPDETGFITPADSGLITPGG
  FSSVPAGMETPELIELRKKKIEEAMDGSETPQLFTVLPEKRTATVGGAMMGSTHIYDMSTVMSRKGPAPELQGVE
  VALAPEELELDPMAMTQKYEEHVREQQAQVEKEDFSDMVAEHAAKQKQKKRKAQPQDSRGGSKKYKEFKF

• Structural information:
  • Protein Domains: (24..5-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186"-)
  • Interpro: IPR007180  IPR006568  IPR003034  
  • Prosite: PS50800
  • PDB: 2DO5 5Z56 5Z57 5Z58 6AH0 6FF4 6FF7 6QX9
  • PDBsum: 2DO5 5Z56 5Z57 5Z58 6AH0 6FF4 6FF7 6QX9
  • STRING: ENSP00000318861
• Other Databases: GeneCards:  SF3B2  Malacards:  SF3B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0005684	U2-type spliceosomal complex	IBA	cellular component
GO:0005686	U2 snRNP	IBA	cellular component
GO:0071011	precatalytic spliceosome	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0005689	U12-type spliceosomal complex	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	TAS	biological process
GO:0008380	RNA splicing	TAS	biological process
GO:0005681	spliceosomal complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)