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GJB2 gap junction protein beta 2 [ Homo sapiens (human) ]

Gene ID: 2706, updated on 5-Mar-2019

Summary

Official Symbol
GJB2provided by HGNC
Official Full Name
gap junction protein beta 2provided by HGNC
Primary source
HGNC:HGNC:4284
See related
Ensembl:ENSG00000165474 MIM:121011
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HID; KID; PPK; CX26; DFNA3; DFNB1; NSRD1; DFNA3A; DFNB1A
Summary
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
Expression
Biased expression in esophagus (RPKM 338.5) and skin (RPKM 18.9) See more
Orthologs

Genomic context

See GJB2 in Genome Data Viewer
Location:
13q12.11
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (20187463..20192975, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20761602..20768605, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene gap junction protein alpha 3 Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene gap junction protein beta 6 Neighboring gene uncharacterized LOC105370102

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal dominant 3a Compare labs
Deafness, autosomal recessive 1A Compare labs
Deafness, digenic, GJB2/GJB3
MedGen: C2673761 GeneReviews: Not available
Compare labs
Deafness, X-linked 2 Compare labs
Hystrix-like ichthyosis with deafness
MedGen: C1865234 OMIM: 602540 GeneReviews: Not available
Compare labs
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
MedGen: C1835678 OMIM: 148210 GeneReviews: Not available
Compare labs
Keratoderma palmoplantar deafness
MedGen: C1835672 OMIM: 148350 GeneReviews: Not available
Compare labs
Knuckle pads, deafness AND leukonychia syndrome
MedGen: C0266004 OMIM: 149200 GeneReviews: Not available
Compare labs
Mutilating keratoderma
MedGen: C0265964 OMIM: 124500 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated (2012-05-10)

ClinGen Genome Curation Page

Pathways from BioSystems

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Oligomerization of connexins into connexons, organism-specific biosystem (from REACTOME)
    Oligomerization of connexins into connexons, organism-specific biosystemThe mechanism of connexin assembly into connexons has been well characterized. Two different types of connexons can be formed. A connexon containing six identical connexin molecules is referred to as...
  • Transport of connexins along the secretory pathway, organism-specific biosystem (from REACTOME)
    Transport of connexins along the secretory pathway, organism-specific biosystemConnexins follow the classical secretory transport route from the ER to the plasma membrane: ER -> ERGIC -> Golgi -> TGN (Trans Golgi Network) -> PM (Plasma Membrane). All connexins assemble or oli...
  • Transport of connexons to the plasma membrane, organism-specific biosystem (from REACTOME)
    Transport of connexons to the plasma membrane, organism-specific biosystemFollowing connexon oligomerization, the hemichannels must be transported to the plasma membrane. This has been shown to occur in transport vesicles called "cargo containers". Most of post-Golgi carg...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucagon stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
decidualization IEA
Inferred from Electronic Annotation
more info
 
epididymis development IEA
Inferred from Electronic Annotation
more info
 
gap junction assembly TAS
Traceable Author Statement
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to human chorionic gonadotropin IEA
Inferred from Electronic Annotation
more info
 
response to ischemia IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to progesterone IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
astrocyte projection IEA
Inferred from Electronic Annotation
more info
 
cell body IEA
Inferred from Electronic Annotation
more info
 
connexin complex IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
gap junction beta-2 protein
Names
connexin 26
gap junction beta 2 proteinc
gap junction protein, beta 2, 26kDa
mutant gap junction beta 2 protein
mutant gap junction protein beta 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008358.1 RefSeqGene

    Range
    5038..10506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004004.6NP_003995.2  gap junction beta-2 protein

    See identical proteins and their annotated locations for NP_003995.2

    Status: REVIEWED

    Source sequence(s)
    AA962716, BC017048, BC071703, DA287424
    Consensus CDS
    CCDS9290.1
    UniProtKB/Swiss-Prot
    P29033
    UniProtKB/TrEMBL
    H9U1J4
    Related
    ENSP00000495035.1, ENST00000645189.1
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    20187463..20192975 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535049.2XP_011533351.1  gap junction beta-2 protein isoform X1

    See identical proteins and their annotated locations for XP_011533351.1

    UniProtKB/Swiss-Prot
    P29033
    UniProtKB/TrEMBL
    H9U1J4
    Related
    ENSP00000372295.1, ENST00000382844.2
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin; Connexin
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