GJD3 gap junction protein delta 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJD3provided by HGNC
Official Full Name: gap junction protein delta 3provided by HGNC
Primary source: HGNC:HGNC:19147
See related: Ensembl:ENSG00000183153 MIM:607425; AllianceGenome:HGNC:19147
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GJC1; GJA11; CX31.9; Cx30.2
Summary: This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (40360652..40364737, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (41224164..41228249, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38516904..38520989, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.
Title: Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.
Cx31.9 protein, unlike its counterpart in the mouse, is not expressed in detectable quantities and is thus unlikely to contribute to the impulse generation and conduction system or the working myocardium of the human heart.
Title: Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system.
Our data suggest that connexin30.2 can form heteromers with the other cardiac connexins.
Title: Cx30.2 can form heteromeric gap junction channels with other cardiac connexins.
Connexin 31.9 represents a novel connexin gene that in vivo generates a protein with unique voltage gating properties.
Title: Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1.
Exogenous Cx31 expression induced neurite outgrowth in human neuronal cell lines, but not differentiation in primary human keratinocytes.
Title: Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
Results describe the identification of a novel human gap junction gene that encodes a protein designated HCx31.9 (connexin 31.9).
Title: Identification and functional expression of HCx31.9, a novel gap junction gene.
Hemichannels formed of mCx30.2 and hCx31.9 may slow propagation of excitation in the sinoatrial and atrioventricular nodes by shortening the space constant and depolarizing the excitable membrane
Title: Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart.
expression patterns differ from mouse orthologs [Cx30.2; Cx40.1]
Title: Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.

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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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Markers

RH44908 (e-PCR)
- UniSTS:34833

NoName (e-PCR)
- UniSTS:482601

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IBA Inferred from Biological aspect of Ancestor more info
NOT enables gap junction channel activity involved in cardiac conduction electrical coupling	NAS Non-traceable Author Statement more info	PubMed
enables monoatomic ion channel activity	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	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell communication	TAS Traceable Author Statement more info	PubMed
NOT involved_in cell communication involved in cardiac conduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac conduction	IEA Inferred from Electronic Annotation more info
NOT involved_in negative regulation of cell communication by electrical coupling involved in cardiac conduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gap junction delta-3 protein

Names: connexin-31.9; gap junction alpha-11 protein; gap junction chi-1 protein; gap junction protein, delta 3, 31.9kDa

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.