Gja5 gap junction protein, alpha 5 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gja5provided by RGD
Official Full Name: gap junction protein, alpha 5provided by RGD
Primary source: RGD:2692
See related: Ensembl:ENSRNOG00000017484 AllianceGenome:RGD:2692
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Cx40; Cxni
Summary: Enables connexin binding activity; disordered domain specific binding activity; and gap junction channel activity. Involved in several processes, including blood vessel diameter maintenance; cell communication by chemical coupling; and regulation of blood pressure. Located in cell projection. Part of connexin complex. Used to study hypertension. Biomarker of artery disease (multiple); glomerulonephritis; obesity; and ureteral obstruction. Human ortholog(s) of this gene implicated in atrial fibrillation; atrial standstill 1; familial atrial fibrillation; and tetralogy of Fallot. Orthologous to human GJA5 (gap junction protein alpha 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Lung (RPKM 84.8), Heart (RPKM 24.7) and 6 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 2q34

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (187291227..187310770)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (184602407..184621952)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (199162745..199184942)

Chromosome 2 - NC_086020.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The A96S, G38D, and P88S Cx40 mutations slow conduction and increased the propensity for inducible AF.
Title: Human Connexin40 Mutations Slow Conduction and Increase Propensity for Atrial Fibrillation.
Lipopolysaccharide impairs permeability of pulmonary microvascular endothelial cells via Connexin40/protein kinase C/nfkappaB pathway.
Title: Lipopolysaccharide impairs permeability of pulmonary microvascular endothelial cells via Connexin40.
This study demonstrated the Cx40 was upregulated after traumatic brain injury in a linear correlated manner with increased oxidative stress.
Title: Connexin40 correlates with oxidative stress in brains of traumatic brain injury rats.
data are consistent with contributions of G2 and D3 residues to Cx40 channel pore structure, but not with postulated hydrophobic W4 intermolecular interactions; results indicate an absolute requirement for an amphipathic W3/4 residue; alternatively hypothesize that the connexin D2/3-W3/4 locus interacts with the highly conserved FIFR M1 motif to stabilize the NT domain within the pore
Title: Specificity of the connexin W3/4 locus for functional gap junction formation.
Data show that the ratio of peripheral blood CD4(+)/CD8(+) T lymphocytes and the levels of connexin-40 (Cx40), interleukins IL-2, IL-4 and IL-6 are significantly elevated in SH rats.
Title: [An increase in the ratio of peripheral blood CD4+/CD8+ T lymphocytes and the levels of connexin 40 and inflammatory factors in spontaneously hypertensive rats].
Cx40 expression in mesangial cells is related to mesangial cell regeneration
Title: Glomerular expression of connexin 40 and connexin 43 in rat experimental glomerulonephritis.
The expressions of Cx40 and HCN4 increase obviously after coculturing bone marrow mesenchymal stem cells with sinoatrial node tissue.
Title: [Expression of connexin 40 and hyperpolarization-activated cyclic nucleotide-gated cation channel 4 in rat bone marrow mesenchymal stem cells cocultured with sinoatrial node tissues in vitro].
Valsartan and U0126 were equivalent on attenuating atrial fibrosis and Cx40 remodeling by inhibiting ERK pathways at different levels.
Title: [Effects of valsartan and U0126 on atrial fibrosis and connexin40 remodeling in rats].
three-dimensional molecular topography and calcium-sensitive conformational changes of Connexin40 hemichannels
Title: Atomic force microscopy of Connexin40 gap junction hemichannels reveals calcium-dependent three-dimensional molecular topography and open-closed conformations of both the extracellular and cytoplasmic faces.
The demonstrated that in the endothelium of the native vein, the gap-junctional spot numbers (GJSNs) and the total gap-junctional areas (TGJAs) of Cx40 were lower than those of the thoracic aorta.
Title: Differential endothelial gap junction expression in venous vessels exposed to different hemodynamics.

Submit: New GeneRIF Correction See all GeneRIFs (23)

General gene information

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Markers

RH134117 (e-PCR)
- UniSTS:217399

Gja5 (e-PCR), detects polymorphism
- UniSTS:518838

D2Wox62 (e-PCR)
- UniSTS:240059

Gja5 (e-PCR), detects polymorphism
- UniSTS:166617

UniSTS:275686 (e-PCR)
- UniSTS:275686

Gja5 (e-PCR), detects polymorphism
- UniSTS:275686

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables connexin binding	IPI Inferred from Physical Interaction more info	PubMed
enables disordered domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in cardiac conduction electrical coupling	ISO Inferred from Sequence Orthology more info
enables gap junction hemi-channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within AV node cell to bundle of His cell communication	ISO Inferred from Sequence Orthology more info
involved_in AV node cell to bundle of His cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within SA node cell action potential	ISO Inferred from Sequence Orthology more info
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in artery morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in atrial cardiac muscle cell to AV node cell communication by electrical coupling	IBA Inferred from Biological aspect of Ancestor more info
involved_in atrial cardiac muscle cell to AV node cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
involved_in atrial septum development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within atrial septum morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within atrial ventricular junction remodeling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel diameter maintenance	ISO Inferred from Sequence Orthology more info
involved_in bundle of His cell to Purkinje myocyte communication by electrical coupling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac conduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac conduction system development	ISO Inferred from Sequence Orthology more info
involved_in cell communication by chemical coupling	IDA Inferred from Direct Assay more info	PubMed
involved_in cell communication by electrical coupling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell communication by electrical coupling involved in cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in cell communication by electrical coupling involved in cardiac conduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell communication involved in cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to platelet-derived growth factor stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic heart tube development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic limb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in endothelium development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within foramen ovale closure	ISO Inferred from Sequence Orthology more info
involved_in gap junction assembly	ISO Inferred from Sequence Orthology more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IEP Inferred from Expression Pattern more info	PubMed
involved_in mitral valve development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of glomerular filtration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell communication by chemical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in pulmonary valve formation	ISO Inferred from Sequence Orthology more info
involved_in regulation of AV node cell action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of Purkinje myocyte action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of atrial cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of atrial cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of atrial cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of bundle of His cell action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell communication by electrical coupling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of membrane depolarization during cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of renin secretion into blood stream	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of systemic arterial blood pressure	ISO Inferred from Sequence Orthology more info
acts_upstream_of regulation of ventricular cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
acts_upstream_of regulation of ventricular cardiac muscle cell membrane repolarization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within renal system process involved in regulation of systemic arterial blood pressure	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within septum primum development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal system development	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in vasodilation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasomotion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
involved_in ventricular septum development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ventricular septum morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	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
part_of connexin complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of connexin complex	ISO Inferred from Sequence Orthology more info
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction alpha-5 protein

Names: connexin 40; connexin i; gap junction membrane channel protein alpha 5

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.