Gjd3 gap junction protein, delta 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjd3provided by MGI
Official Full Name: gap junction protein, delta 3provided by MGI
Primary source: MGI:MGI:2384150
See related: Ensembl:ENSMUSG00000047197 AllianceGenome:MGI:2384150
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cxnr; Gjc1; Gja11; cx30.2
Summary: Enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling and ion channel activity. Involved in negative regulation of cell communication by electrical coupling involved in cardiac conduction and regulation of heart contraction. Located in gap junction. Part of connexin complex. Is expressed in heart. Orthologous to human GJD3 (gap junction protein delta 3). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 11 D; 11 62.89 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (98870773..98873846, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (98979947..98983020, complement)

Chromosome 11 - NC_000077.7 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?

results suggest that intercellular coupling mediated by Cx30.2 intercellular channels may synchronize the functional activity of ECs and SMCs of vascular cells, as well as of epithelial ductal cells after birth.
Title: Connexin 30.2 is expressed in exocrine vascular endothelial and ductal epithelial cells throughout pancreatic postnatal development.
Significant reduction of Cx30.2 mRNA was found in islets preparations incubated for 24h in 22mM as compared with 3.3mM glucose.
Title: Connexin 30.2 is expressed in mouse pancreatic beta cells.
The data of this stiudy provided evidence that coupling of RG A1 cells to displaced amacrine cells is mediated by Cx30.2 and that the extent of this coupling is modulated by protein kinase C.
Title: Expression and modulation of connexin 30.2, a novel gap junction protein in the mouse retina.
A distal enhancer for the connexin 30.2 (Cx30.2, also known as Gjd3) gene required for normal atrioventricular (AV) delay in mice, is necessary and sufficient to direct expression to the developing AV conduction system, which is alos dependent on Gata4.
Title: Cx30.2 enhancer analysis identifies Gata4 as a novel regulator of atrioventricular delay.
Cx30.2 and Cx40 act as counterparts in the AV-node and His-bundle, decreasing or increasing, respectively, electrical coupling and conduction velocity in these areas.
Title: Normal impulse propagation in the atrioventricular conduction system of Cx30.2/Cx40 double deficient mice.
In the hippocampus, co-immunofluorescence analyses revealed beta-galactosidase/Cx30.2 expression in GABAergic inhibitory interneurons such as parvalbumin- and somatostatin-positive basket, axo-axonic, bistratified or oriens lacunosum-moleculare cells.
Title: Expression of connexin30.2 in interneurons of the central nervous system in the mouse.
The electrical properties of homo- and hetero-typic junctions involving mCx30.2 may contribute to slow propagation velocity in nodal tissues and directional asymmetry of excitation spread in the AV nodal region.
Title: Functional properties of mouse connexin30.2 expressed in the conduction system of the heart.
Cx30.2 contributes to the slowdown of impulse propagation in the atrioventricular node and limits the maximum number of beats conducted from atria to ventricles
Title: Connexin30.2 containing gap junction channels decelerate impulse propagation through the atrioventricular node.
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 [connexin 30.2]
Title: Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
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
enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
enables monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic ion channel activity	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AV node cell to bundle of His cell communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction assembly	ISO Inferred from Sequence Orthology more info
involved_in gap junction assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell communication by electrical coupling involved in cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to glucose	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IGI Inferred from Genetic Interaction more info	PubMed
part_of connexin complex	ISO Inferred from Sequence Orthology more info
part_of connexin complex	ISS Inferred from Sequence or Structural Similarity more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction delta-3 protein

Names: connexin 30.2; connexin r; gap junction alpha-11 protein; gap junction chi-1 protein; gap junction membrane channel protein chi 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.