• Gene id: 79879

Gene Summary

• Gene Symbol: CCDC134   Gene   UCSC   Ensembl
• Gene name: coiled-coil domain containing 134
• Alternate names: coiled-coil domain-containing protein 134,
• Gene location: 22q13.2 (41800609: 41832163)     Exons: 8     NC_000022.11
• OMIM: 614246

Protein Summary

• Protein general information: Q9H6E4  
  • Name: Coiled coil domain containing protein 134
  • Length: 229  
  • Mass: 26561
  • Tissue specificity: Expressed in cervical gland, cervical squamous epithelium, endometrium, stomach, kidney distal convoluted tubule, spermatogenic cells in testis, mammary gland, liver and striated muscle (at protein level) (PubMed
• Sequence:

  MDLLQFLAFLFVLLLSGMGATGTLRTSLDPSLEIYKKMFEVKRREQLLALKNLAQLNDIHQQYKILDVMLKGLFK
  VLEDSRTVLTAADVLPDGPFPQDEKLKDAFSHVVENTAFFGDVVLRFPRIVHYYFDHNSNWNLLIRWGISFCNQT
  GVFNQGPHSPILSLMAQELGISEKDSNFQNPFKIDRTEFIPSTDPFQKALREEEKRRKKEEKRKEIRKGPRISRS
  QSEL

• Structural information:
  • Interpro: IPR026321  
  • STRING: ENSP00000255784
• Other Databases: GeneCards:  CCDC134  Malacards:  CCDC134

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0021591	ventricular system development	IEA	biological process
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:1990402	embryonic liver development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

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