Version 5.4
Homo sapiens Gene: GJB4
Summary
InnateDB Gene IDBG-96004.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GJB4
Gene Name gap junction protein, beta 4, 30.3kDa
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000189433
Encoded Proteins
IDBP-96006
gap junction protein, beta 4, 30.3kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:34759741-34763724
Strand Forward strand
Band p34.3
Transcripts
ENST00000339480 ENSP00000345868
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007154 cell communication
GO:0007608 sensory perception of smell
GO:0042048 olfactory behavior
Cellular Component
GO:0005922 connexon complex
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000046623
View Gene Order
ENSBTAG00000005719
Not yet available
Pathways
NETPATH
REACTOME
REACT_9509
Gap junction assembly pathway
REACT_9411
Gap junction trafficking pathway
REACT_9480
Gap junction trafficking and regulation pathway
REACT_11123
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.351203
RefSeq NM_153212
HUGO
OMIM
CCDS CCDS383
HPRD 05666
IMGT
EMBL
GenPept
RNA Seq Atlas

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