Version 5.4
Homo sapiens Protein: GJD2
Summary
InnateDB Protein IDBP-5655.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GJD2
Protein Name gap junction protein, delta 2, 36kDa
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000290374
InnateDB Gene IDBG-5653 (GJD2)
Protein Structure
UniProt Annotation
Function One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Subcellular Localization Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Disease Associations
Tissue Specificity Highly expressed in neurons.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005243 gap junction channel activity
GO:0005515 protein binding
Biological Process
GO:0001508 action potential
GO:0007267 cell-cell signaling
GO:0007268 synaptic transmission
GO:0007601 visual perception
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005922 connexon complex
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR000500 Connexin
IPR002260 Gap junction delta-2 protein (Cx36)
IPR013092 Connexin, N-terminal
IPR019570 Gap junction protein, cysteine-rich domain
PFAM PF00029
PF10582
PRINTS PR00206
PR01131
PIRSF
SMART SM00037
SM01089
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UKL4
PhosphoSite PhosphoSite-Q9UKL4
TrEMBL
UniProt Splice Variant
Entrez Gene 57369
UniGene Hs.578568
RefSeq NP_065711
HUGO HGNC:19154
OMIM 607058
CCDS CCDS10040
HPRD 09521
IMGT
EMBL AB037509 AF153047 BC069339 BC112110 BC112114
GenPept AAD54234 AAH69339 AAI12111 AAI12115 BAA90429

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca