GJB6 gap junction protein beta 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJB6provided by HGNC
Official Full Name: gap junction protein beta 6provided by HGNC
Primary source: HGNC:HGNC:4288
See related: Ensembl:ENSG00000121742 MIM:604418; AllianceGenome:HGNC:4288
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: ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B
Summary: Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
Expression: Biased expression in esophagus (RPKM 49.4), bone marrow (RPKM 18.1) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (20221962..20232319, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (19418446..19428785, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (20796101..20806458, 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
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?

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.
Title: A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Title: GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis.
Title: Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis.
Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
Title: Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
None of the patients had targeted deletions in the GJB6 gene.
Title: Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
Study shows that Cx30 expression localized onto oligodendrocytes cells and myelinated fibers is decreased in deep cortical layers of the anterior cingulate cortex in male-depressed suicides.
Title: Evidence of decreased gap junction coupling between astrocytes and oligodendrocytes in the anterior cingulate cortex of depressed suicides.
No deletion of GJB6 was detected in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
Title: The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
results showed the A88V and G11R mutants of GJB6 may activate the downstream execution factor, caspase-3, through the extrinsic apoptotic pathway mediated by caspase-8 and the intrinsic apoptotic pathway mediated by caspase-9; study provides further clarification on mechanisms underlying the effect of mutant variants A88V and G11R of the GJB6 gene on the induction of HaCaT cell apoptosis
Title: Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.
Investigation of stemness-related CD133 and cMyc in human samples and rat xenografts exhibited a reciprocal relationship between Cx30 and IGF-1R in the low and high grades (HG) of glioma. Cx30 was completely abolished in HG; levels of IGF-1R, CD133 and cMyc expression were positively correlated with HG. Cx30 transfection could attenuate the malignant burden of glioma in rat xenografts.
Title: Implication of connexin30 on the stemness of glioma: connexin30 reverses the malignant phenotype of glioma by modulating IGF-1R, CD133 and cMyc.
Genotype may affect deafness severity, but environmental and other genetic factors may also modulate the severity and evolution of GJB2-GJB6 deafness.
Title: GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?

Submit: New GeneRIF Correction See all GeneRIFs (106)

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 nonsyndromic hearing loss 3B MedGen: C2675237 OMIM: 612643 GeneReviews: Genetic Hearing Loss Overview	not available
Autosomal recessive nonsyndromic hearing loss 1A MedGen: C2673759 OMIM: 220290 GeneReviews: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss, Genetic Hearing Loss Overview	not available
Autosomal recessive nonsyndromic hearing loss 1B MedGen: C2675235 OMIM: 612645 GeneReviews: Not available	not available
Hidrotic ectodermal dysplasia syndrome MedGen: C0162361 OMIM: 129500 GeneReviews: Hidrotic Ectodermal Dysplasia 2	not available
X-linked mixed hearing loss with perilymphatic gusher MedGen: C1844678 OMIM: 304400 GeneReviews: Genetic Hearing Loss Overview	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2014-01-30) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2014-01-30) ClinGen Genome Curation Page

Variation

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-tubulin 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 microtubule binding	IDA Inferred from Direct Assay 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 cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in gap junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gap junction assembly	NAS Non-traceable Author Statement 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 maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in sinoatrial node development	NAS Non-traceable Author Statement more info	PubMed
involved_in transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in actin filament	IMP Inferred from Mutant Phenotype more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell junction	IDA Inferred from Direct Assay more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in gap junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in gap junction	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gap junction beta-6 protein

Names: connexin 30; ectodermal dysplasia 2, hidrotic (Clouston syndrome); gap junction protein, beta 6, 30kDa

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.