• Gene id: 125111

Gene Summary

• Gene Symbol: GJD3   Gene   UCSC   Ensembl
• Aliases: CX31.9, Cx30.2, GJA11, GJC1
• Gene name: gap junction protein delta 3
• Alternate names: gap junction delta-3 protein, connexin-31.9, gap junction alpha-11 protein, gap junction chi-1 protein, gap junction protein, delta 3, 31.9kDa,
• Gene location: 17q21.2 (40364736: 40360651)     Exons: 1     NC_000017.11
• Gene summary(Entrez): This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, th

Protein Summary

• Protein general information: Q8N144  
  • Name: Gap junction delta 3 protein (Connexin 31.9) (Cx31.9) (Gap junction alpha 11 protein) (Gap junction chi 1 protein)
  • Length: 294  
  • Mass: 31933
  • Tissue specificity: Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis. {ECO
• Sequence:

  MGEWAFLGSLLDAVQLQSPLVGRLWLVVMLIFRILVLATVGGAVFEDEQEEFVCNTLQPGCRQTCYDRAFPVSHY
  RFWLFHILLLSAPPVLFVVYSMHRAGKEAGGAEAAAQCAPGLPEAQCAPCALRARRARRCYLLSVALRLLAELTF
  LGGQALLYGFRVAPHFACAGPPCPHTVDCFVSRPTEKTVFVLFYFAVGLLSALLSVAELGHLLWKGRPRAGERDN
  RCNRAHEEAQKLLPPPPPPPPPPALPSRRPGPEPCAPPAYAHPAPASLRECGSGRGKASPATGRRDLAI

• Structural information:
  • Interpro: IPR000500  IPR019570  IPR017990  IPR013092  IPR038359  
  • Prosite: PS00408
  • STRING: ENSP00000463752
• Other Databases: GeneCards:  GJD3  Malacards:  GJD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007267	cell-cell signaling	IBA	biological process
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0005922	connexin complex	IBA	cellular component
GO:0007154	cell communication	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005243	gap junction channel activity	IEA	molecular function
GO:0009749	response to glucose	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005921	gap junction	IEA	cellular component
GO:0005922	connexin complex	IEA	cellular component
GO:0086075	gap junction channel activity involved in cardiac conduction electrical coupling	NAS	NOT|molecular function
GO:0086065	cell communication involved in cardiac conduction	IEP	NOT|biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0016264	gap junction assembly	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005922	connexin complex	IDA	cellular component
GO:0007154	cell communication	TAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq