GJB4 gap junction protein beta 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJB4provided by HGNC
Official Full Name: gap junction protein beta 4provided by HGNC
Primary source: HGNC:HGNC:4286
See related: Ensembl:ENSG00000189433 MIM:605425; AllianceGenome:HGNC:4286
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; EKVP2; CX30.3
Summary: This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
Expression: Biased expression in skin (RPKM 10.4), gall bladder (RPKM 1.6) and 2 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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (34759740..34762327)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (34622378..34624965)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (35225341..35227928)

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
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?

GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Title: GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.
Title: Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.
Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.
Title: Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.
study has identified Gjb4 as a potential novel diagnostic and prognostic biomarker for lung cancer. Targeting Gjb4 may be exploited as a modality for improving lung cancer therapy.
Title: Gjb4 serves as a novel biomarker for lung cancer and promotes metastasis and chemoresistance via Src activation.
GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4.
Title: Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
In this study, we found no mutations of GJB4 in two Progressive symmetrical erythrokeratoderma families.
Title: Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.
Letter: describe erythrokeratodermia variabilis phenotype related to novel mutation in GJB4 gene.
Title: Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Title: Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation.
Title: Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.
There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown.
Title: Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Erythrokeratodermia variabilis et progressiva 2 MedGen: C4479618 OMIM: 617524 GeneReviews: Not available	Compare labs

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

GJB5_1602 (e-PCR)
- UniSTS:277284

GJB5_v569 (e-PCR)
- UniSTS:277284

GJB4_2581 (e-PCR)
- UniSTS:280697

RH77843 (e-PCR)
- UniSTS:58800

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	ISS Inferred from Sequence or Structural Similarity more info
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 cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in gap junction-mediated intercellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in olfactory behavior	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	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
part_of connexin complex	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: gap junction beta-4 protein

Names: connexin 30.3; gap junction protein, beta 4, 30.3kDa

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.