GJB5 gap junction protein beta 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJB5provided by HGNC
Official Full Name: gap junction protein beta 5provided by HGNC
Primary source: HGNC:HGNC:4287
See related: Ensembl:ENSG00000189280 MIM:604493; AllianceGenome:HGNC:4287
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: CX31.1
Summary: This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
Expression: Biased expression in skin (RPKM 23.3), esophagus (RPKM 21.2) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (34755047..34758512)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (34617685..34621150)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (35220648..35224113)

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?

GJB5 association with BRAF mutation and survival in cutaneous malignant melanoma.
Title: GJB5 association with BRAF mutation and survival in cutaneous malignant melanoma.
autophagy contributed to Cx31.1 degradation, and clathrin might be involved in the autophagy of Cx31.1.
Title: Connexin 31.1 degradation requires the Clathrin-mediated autophagy in NSCLC cell H1299.
Overexpression of Cx31.1 in H1299 cells reduced cell proliferation, delayed the G1 phase, inhibited anchorage-independent growth, and suppressed cell migration and invasion. Xenografts of Cx31.1 overexpressing H1299 cells had reduced tumourigenicity.
Title: Cx31.1 acts as a tumour suppressor in non-small cell lung cancer (NSCLC) cell lines through inhibition of cell proliferation and metastasis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

AL009997 (e-PCR)
- UniSTS:75620

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 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 epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in epididymis development	IEA Inferred from Electronic Annotation more info
involved_in labyrinthine layer morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in trophoblast giant cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: gap junction beta-5 protein

Names: gap junction protein, beta 5 (connexin 31.1); gap junction protein, beta 5, 31.1kDa; gap junctional protein cx31.1

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.