GJB3 gap junction protein beta 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJB3provided by HGNC
Official Full Name: gap junction protein beta 3provided by HGNC
Primary source: HGNC:HGNC:4285
See related: Ensembl:ENSG00000188910 MIM:603324; AllianceGenome:HGNC:4285
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: EKV; CX31; DFNA2; EKVP1; DFNA2B
Summary: This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Expression: Biased expression in skin (RPKM 23.0), esophagus (RPKM 12.6) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (34781214..34786364)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (34643843..34648993)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (35246815..35251965)

Chromosome 1 - NC_000001.11 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?

Impairment of alpha-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.
Title: Impairment of α-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.
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.
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Title: The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.
Title: Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
Title: A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
Four patients were identified to carry the GJB3 mutation in a heterozygous state, including three with c.538C > T and one with c.547G > A
Title: Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Here, we reported a novel compound heterozygous mutations of GJB3 gene in a Chinese EKPV family with autosomal recessive inheritance pattern.
Title: Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva.
GJB3 gene mutation was not involved with hearing loss in Shanghai area.
Title: [Analysis of mutations of 4 common genes among 216 patients with non-syndromic hearing impairment].
The results of this study showed that GJB3 mutants appear to account for a small proportion in double heterozygous state with autosomal recessive GJB2 mutation .
Title: GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G.
Title: Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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 2B MedGen: C2675236 OMIM: 612644 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
Deafness, digenic, GJB2/GJB3 MedGen: C2673761 GeneReviews: Not available	not available
Erythrokeratodermia variabilis et progressiva 1 MedGen: C4551486 OMIM: 133200 GeneReviews: Not available	not available

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

GJB3_971 (e-PCR)
- UniSTS:277283

SHGC-74581 (e-PCR)
- UniSTS:24503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in skin development	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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 cytoplasm	IEA Inferred from Electronic Annotation more info
located_in gap junction	NAS Non-traceable Author Statement more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: gap junction beta-3 protein

Names: connexin 31; gap junction protein, beta 3, 31kDa

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.

Genomic

NG_008309.1 RefSeqGene

Range

5026..10176

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001005752.2 → NP_001005752.1 gap junction beta-3 protein

See identical proteins and their annotated locations for NP_001005752.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL121988, BC012918, BM763034

Consensus CDS

CCDS384.1

UniProtKB/Swiss-Prot

B2R790, O75712, Q2TAZ8

UniProtKB/TrEMBL

A0A654ICK0, A1YRJ5

Related

ENSP00000362460.3, ENST00000373362.3

Conserved Domains (1) summary

pfam00029
Location:2 → 211

Connexin
NM_024009.3 → NP_076872.1 gap junction beta-3 protein

See identical proteins and their annotated locations for NP_076872.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK026139, AL547036, BE673240, BM846348

Consensus CDS

CCDS384.1

UniProtKB/Swiss-Prot

B2R790, O75712, Q2TAZ8

UniProtKB/TrEMBL

A0A654ICK0, A1YRJ5

Related

ENSP00000362464.2, ENST00000373366.3

Conserved Domains (1) summary

pfam00029
Location:2 → 211

Connexin