• Gene id: 57102

Gene Summary

• Gene Symbol: C12orf4   Gene   UCSC   Ensembl
• Gene name: chromosome 12 open reading frame 4
• Alternate names: protein C12orf4,
• Gene location: 12p13.32 (4538507: 4487729)     Exons: 15     NC_000012.12
• Gene summary(Entrez): This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by

Protein Summary

• Protein general information: Q9NQ89  
  • Name: Protein C12orf4
  • Length: 552  
  • Mass: 63801
• Sequence:

  MKKNRERFCNREREFVYKFKVGSQCLELRVPLKFPVQENASHLHGRLMLLHSLPCFIEKDLKEALTQFIEEESLS
  DYDRDAEASLAAVKSGEVDLHQLASTWAKAYAETTLEHARPEEPSWDEDFADVYHDLIHSPASETLLNLEHNYFV
  SISELIGERDVELKKLRERQGIEMEKVMQELGKSLTDQDVNSLAAQHFESQQDLENKWSNELKQSTAIQKQEYQE
  WVIKLHQDLKNPNNSSLSEEIKVQPSQFRESVEAIGRIYEEQRKLEESFTIHLGAQLKTMHNLRLLRADMLDFCK
  HKRNHRSGVKLHRLQTALSLYSTSLCGLVLLVDNRINSYSGIKRDFATVCQECTDFHFPRIEEQLEVVQQVVLYA
  RTQRRSKLKESLDSGNQNGGNDDKTKNAERNYLNVLPGEFYITRHSNLSEIHVAFHLCVDDHVKSGNITARDPAI
  MGLRNILKVCCTHDITTISIPLLLVHDMSEEMTIPWCLRRAELVFKCVKGFMMEMASWDGGISRTVQFLVPQSIS
  EEMFYQLSNMLPQIFRVSSTLTLTSKH

• Structural information:
  • Interpro: IPR019311  
  • STRING: ENSP00000261250
• Other Databases: GeneCards:  C12orf4  Malacards:  C12orf4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043304	regulation of mast cell degranulation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0043304	regulation of mast cell degranulation	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043304	regulation of mast cell degranulation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881