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GJB2 gap junction protein, beta 2, 26kDa [ Homo sapiens (human) ]

Gene ID: 2706, updated on 23-Nov-2014
Official Symbol
GJB2provided by HGNC
Official Full Name
gap junction protein, beta 2, 26kDaprovided by HGNC
Primary source
HGNC:HGNC:4284
See related
Ensembl:ENSG00000165474; HPRD:00413; MIM:121011; Vega:OTTHUMG00000016513
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]
See GJB2 in Epigenomics, MapViewer
Location:
13q11-q12
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (20187463..20194466, 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, 46kDa Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene 28 Neighboring gene gap junction protein, beta 6, 30kDa Neighboring gene crystallin, lambda 1 Neighboring gene microRNA 4499

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-cell signaling 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
 
gap junction assembly TAS
Traceable Author Statement
more info
 
male genitalia development IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
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 progesterone 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
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
connexon complex 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
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
gap junction beta-2 protein
Names
gap junction beta-2 protein
connexin 26
gap junction protein beta 2

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 

    Range
    5001..10513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004004.5NP_003995.2  gap junction beta-2 protein

    See proteins identical to NP_003995.2

    Status: REVIEWED

    Source sequence(s)
    AA962716, BC017048, BC071703, BI491091, DA287424
    Consensus CDS
    CCDS9290.1
    UniProtKB/TrEMBL
    H9U1J4
    UniProtKB/Swiss-Prot
    P29033
    Related
    ENSP00000372299, OTTHUMP00000018093, ENST00000382848, OTTHUMT00000044063
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    1567054..1572566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    20187463..20194466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266355.1XP_005266412.1  

    See proteins identical to XP_005266412.1

    UniProtKB/TrEMBL
    H9U1J4
    UniProtKB/Swiss-Prot
    P29033
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
  2. XM_005266354.1XP_005266411.1  

    See proteins identical to XP_005266411.1

    UniProtKB/TrEMBL
    H9U1J4
    UniProtKB/Swiss-Prot
    P29033
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
  3. XM_005266356.1XP_005266413.1  

    See proteins identical to XP_005266413.1

    UniProtKB/TrEMBL
    H9U1J4
    UniProtKB/Swiss-Prot
    P29033
    Conserved Domains (2) summary
    pfam00029
    Location:2108
    Connexin; Connexin
    smart01089
    Location:146213
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    20730111..20735623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)