• Gene id: 57369

Gene Summary

• Gene Symbol: GJD2   Gene   UCSC   Ensembl
• Aliases: CX36, GJA9
• Gene name: gap junction protein delta 2
• Alternate names: gap junction delta-2 protein, connexin-36, gap junction alpha-9 protein, gap junction protein, delta 2, 36kDa,
• Gene location: 15q14 (34754997: 34751031)     Exons: 2     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this p
• OMIM: 607058

Protein Summary

• Protein general information: Q9UKL4  
  • Name: Gap junction delta 2 protein (Connexin 36) (Cx36) (Gap junction alpha 9 protein)
  • Length: 321  
  • Mass: 36093
  • Tissue specificity: Highly expressed in neurons.
• Sequence:

  MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGETVYDDEQTMFVCNTLQPGCNQACYDRAFPISH
  IRYWVFQIIMVCTPSLCFITYSVHQSAKQRERRYSTVFLALDRDPPESIGGPGGTGGGGSGGGKREDKKLQNAIV
  NGVLQNTENTSKETEPDCLEVKELTPHPSGLRTASKSKLRRQEGISRFYIIQVVFRNALEIGFLVGQYFLYGFSV
  PGLYECNRYPCIKEVECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLGWRKIKLAVRGAQAKRKSIYEIRNK
  DLPRVSVPNFGRTQSSDSAYV

• Structural information:
  • Interpro: IPR000500  IPR002260  IPR019570  IPR017990  IPR013092   IPR038359  
  • Prosite: PS00407 PS00408
  • PDB: 2N6A
  • PDBsum: 2N6A
  • STRING: ENSP00000290374
• Other Databases: GeneCards:  GJD2  Malacards:  GJD2

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:0016020	membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0001508	action potential	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04540	Gap junction

Diseases

Associated diseases	References
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)