GJC3 gap junction protein gamma 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJC3provided by HGNC
Official Full Name: gap junction protein gamma 3provided by HGNC
Primary source: HGNC:HGNC:17495
See related: Ensembl:ENSG00000176402 MIM:611925; AllianceGenome:HGNC:17495
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: CX29; GJE1; CX30.2; CX31.3
Summary: This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
Expression: Broad expression in prostate (RPKM 2.6), pancreas (RPKM 1.5) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (99923266..99930747, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101162767..101170248, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (99520889..99527243, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
Title: Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Title: GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Based on these findings, we suggest that p.W77S mutant has a dominant negative effect on the formation and function of the gap junction. These results give a novel molecular elucidation for the mutation of GJC3 in the development of hearing loss.
Title: Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.
Although p.R15G and p.L23H mutants do not decrease the trafficking of CX proteins, mutations in GJC3 genes result in a loss of hemichannel function of CX30.2/CX31.3 protein, possibly causing hearing loss.
Title: Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.
The connexin30.2/CX31.3 shares functional properties with pannexin (hemi) channels rather than gap junction channels of other Connexins.
Title: Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells.
Mutations in the Cx29 gene do not play a role in the causation of non syndromic hearing impairment in Indian population.
Title: Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.
We suggest that the c.[43C-->G(+)230G-->C] compound heterozygous variant of Cx29 may be a risk factor for the development of hearing loss in Taiwanese.
Title: Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method.
Data show that the p.E269D missense mutation resulted in accumulation of the Cx29 mutant protein in the endoplasmic reticulum rather than in the cytoplasmic membrane.
Title: A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss.
Cx31.3 is localized to the gray matter along small myelinated fibers and is co-expressed with Cx32 in oligodendrocytes.
Title: Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.

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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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	NAS Non-traceable Author Statement more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in AV node cell to bundle of His cell communication by electrical coupling	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelination	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in myelin sheath	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction gamma-3 protein

Names: connexin 29; connexin-30.2; connexin-31.3; gap junction epsilon-1 protein; gap junction protein, gamma 3, 30.2kDa

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_016852.2 RefSeqGene

Range

5001..11355

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_181538.3 → NP_853516.1 gap junction gamma-3 protein precursor

Status: REVIEWED

Source sequence(s)

AC011904, AY297109, BC043381

Consensus CDS

CCDS34697.1

UniProtKB/Swiss-Prot

A4D296, Q86XI9, Q8NFK1

UniProtKB/TrEMBL

A0A654ICK9

Related

ENSP00000325775.2, ENST00000312891.3

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin