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

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; AllianceGenome:HGNC:4284
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; BAPS; 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: mouse all
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Genomic context

Location:: 13q12.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (20187470..20192938, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (19383900..19389385, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (20761609..20767077, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].
Title: [Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].
Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO2.
Title: Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO(2).
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
Title: Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.
Title: Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Title: Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Reconstructing the ancestral gene pool to uncover the origins and genetic links of Hmong-Mien speakers.
Title: Reconstructing the ancestral gene pool to uncover the origins and genetic links of Hmong-Mien speakers.
Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China.
Title: Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China.
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Title: Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Title: Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.
Title: Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.

Submit: New GeneRIF Correction See all GeneRIFs (681)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome MedGen: C0265336 OMIM: 148210 GeneReviews: Not available	Compare labs
Autosomal dominant nonsyndromic hearing loss 3A MedGen: C2675750 OMIM: 601544 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Autosomal recessive nonsyndromic hearing loss 1A MedGen: C2673759 OMIM: 220290 GeneReviews: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss, Genetic Hearing Loss Overview	Compare labs
Deafness, digenic, GJB2/GJB3 MedGen: C2673761 GeneReviews: Not available	Compare labs
Ichthyosis, hystrix-like, with hearing loss MedGen: C1865234 OMIM: 602540 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
Palmoplantar keratoderma-deafness syndrome MedGen: C1835672 OMIM: 148350 GeneReviews: Not available	Compare labs
X-linked mixed hearing loss with perilymphatic gusher MedGen: C1844678 OMIM: 304400 GeneReviews: Genetic Hearing Loss Overview	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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78858 (e-PCR)
- UniSTS:83384

GJB2 (e-PCR)
- UniSTS:480198

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction channel activity involved in cell communication by electrical coupling	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell communication by electrical coupling	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucagon stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in decidualization	IEA Inferred from Electronic Annotation more info
involved_in epididymis development	IEA Inferred from Electronic Annotation more info
involved_in gap junction assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in gap junction-mediated intercellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction-mediated intercellular transport	IDA Inferred from Direct Assay more info	PubMed
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to human chorionic gonadotropin	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in astrocyte projection	IEA Inferred from Electronic Annotation more info
located_in cell body	IEA Inferred from Electronic Annotation more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment	TAS Traceable Author Statement more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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.