• Gene id: 25949

Gene Summary

• Gene Symbol: SYF2   Gene   UCSC   Ensembl
• Aliases: CBPIN, NTC31, P29, fSAP29
• Gene name: SYF2 pre-mRNA splicing factor
• Alternate names: pre-mRNA-splicing factor SYF2, CCNDBP1 interactor, GCIP-interacting protein p29, SYF2 homolog, RNA splicing factor, functional spliceosome-associated protein 29,
• Gene location: 1p36.11 (109619812: 109632054)     Exons: 20     NC_000001.11
• Gene summary(Entrez): This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
• OMIM: 607090

Protein Summary

• Protein general information: O95926  
  • Name: Pre mRNA splicing factor SYF2 (CCNDBP1 interactor) (p29)
  • Length: 243  
  • Mass: 28722
  • Tissue specificity: Abundantly expressed in the heart, skeletal muscle and kidney. Expressed at lower level other tissues. {ECO
• Sequence:

  MAAIAASEVLVDSAEEGSLAAAAELAAQKREQRLRKFRELHLMRNEARKLNHQEVVEEDKRLKLPANWEAKKARL
  EWELKEEEKKKECAARGEDYEKVKLLEISAEDAERWERKKKRKNPDLGFSDYAAAQLRQYHRLTKQIKPDMETYE
  RLREKHGEEFFPTSNSLLHGTHVPSTEEIDRMVIDLEKQIEKRDKYSRRRPYNDDADIDYINERNAKFNKKAERF
  YGKYTAEIKQNLERGTAV

• Structural information:
  • Interpro: IPR013260  
  • PDB: 5MQF 5XJC 5YZG 6ICZ 6ID0 6ID1 6QDV
  • PDBsum: 5MQF 5XJC 5YZG 6ICZ 6ID0 6ID1 6QDV
  • STRING: ENSP00000236273
• Other Databases: GeneCards:  SYF2  Malacards:  SYF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071014	post-mRNA release spliceosomal complex	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0000974	Prp19 complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
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: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:0048568	embryonic organ development	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007095	mitotic G2 DNA damage checkpoint	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
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	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881