• Gene id: 8175

Gene Summary

• Gene Symbol: SF3A2   Gene   UCSC   Ensembl
• Aliases: PRP11, PRPF11, SAP62, SF3a66
• Gene name: splicing factor 3a subunit 2
• Alternate names: splicing factor 3A subunit 2, 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,
• Gene location: 19p13.3 (2236823: 2248654)     Exons: 9     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 616996

Protein Summary

• Protein general information: Q15428  
  • Name: Splicing factor 3A subunit 2 (SF3a66) (Spliceosome associated protein 62) (SAP 62)
  • Length: 464  
  • Mass: 49256
• Sequence:

  MDFQHRPGGKTGSGGVASSSESNRDRRERLRQLALETIDINKDPYFMKNHLGSYECKLCLTLHNNEGSYLAHTQG
  KKHQTNLARRAAKEAKEAPAQPAPEKVKVEVKKFVKIGRPGYKVTKQRDSEMGQQSLLFQIDYPEIAEGIMPRHR
  FMSAYEQRIEPPDRRWQYLLMAAEPYETIAFKVPSREIDKAEGKFWTHWNRETKQFFLQFHFKMEKPPAPPSLPA
  GPPGVKRPPPPLMNGLPPRPPLPESLPPPPPGGLPLPPMPPTGPAPSGPPGPPQLPPPAPGVHPPAPVVHPPASG
  VHPPAPGVHPPAPGVHPPAPGVHPPTSGVHPPAPGVHPPAPGVHPPAPGVHPPAPGVHPPAPGVHPPPSAGVHPQ
  APGVHPAAPAVHPQAPGVHPPAPGMHPQAPGVHPQPPGVHPSAPGVHPQPPGVHPSNPGVHPPTPMPPMLRPPLP
  SEGPGNIPPPPPTN

• Structural information:
  • Interpro: IPR000690  IPR003604  IPR031781  IPR036236  
  • Prosite: PS50171
  • PDB: 5Z56 5Z57 5Z58 6AH0 6AHD 6FF4 6FF7 6QX9
  • PDBsum: 5Z56 5Z57 5Z58 6AH0 6AHD 6FF4 6FF7 6QX9
  • DIP: 42521
  • STRING: ENSP00000221494
• Other Databases: GeneCards:  SF3A2  Malacards:  SF3A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006397	mRNA processing	IMP	biological process
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0000389	mRNA 3'-splice site recognition	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0071004	U2-type prespliceosome	IBA	cellular component
GO:0005686	U2 snRNP	IBA	cellular component
GO:0000245	spliceosomal complex assembly	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005686	U2 snRNP	IDA	cellular component
GO:1903241	U2-type prespliceosome assembly	IDA	biological process
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	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: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: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: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:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq