Gja5 gap junction protein, alpha 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gja5provided by MGI
Official Full Name: gap junction protein, alpha 5provided by MGI
Primary source: MGI:MGI:95716
See related: Ensembl:ENSMUSG00000057123 AllianceGenome:MGI:95716
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: Cx40; Cxni; Cnx40; Gja-5; 5730555N10Rik
Summary: Enables gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling. Involved in artery morphogenesis; cell communication by electrical coupling involved in cardiac conduction; and regulation of cardiac muscle cell action potential. Acts upstream of or within several processes, including cardiac conduction; circulatory system development; and regulation of membrane depolarization. Located in gap junction. Is expressed in several structures, including cardiovascular system; early conceptus; limb mesenchyme; musculature; and skin. Used to study tetralogy of Fallot. 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: Broad expression in lung adult (RPKM 16.0), limb E14.5 (RPKM 8.9) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 42.04 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (96939718..96960950)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (97032402..97053634)

Chromosome 3 - NC_000069.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Capillary oxygen regulates demand-supply coupling by triggering connexin40-mediated conduction: Rethinking the metabolic hypothesis.
Title: Capillary oxygen regulates demand-supply coupling by triggering connexin40-mediated conduction: Rethinking the metabolic hypothesis.
Connexin Lateralization Contributes to Male Susceptibility to Atrial Fibrillation.
Title: Connexin Lateralization Contributes to Male Susceptibility to Atrial Fibrillation.
Calcium Signal Profiles in Vascular Endothelium from Cdh5-GCaMP8 and Cx40-GCaMP2 Mice.
Title: Calcium Signal Profiles in Vascular Endothelium from Cdh5-GCaMP8 and Cx40-GCaMP2 Mice.
Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.
Title: Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.
Characteristics of Ventricular Electrophysiological Substrates in Metabolic Mice Treated with Empagliflozin.
Title: Characteristics of Ventricular Electrophysiological Substrates in Metabolic Mice Treated with Empagliflozin.
Conjugated activation of myocardial-specific transcription of Gja5 by a pair of Nkx2-5-Shox2 co-responsive elements.
Title: Conjugated activation of myocardial-specific transcription of Gja5 by a pair of Nkx2-5-Shox2 co-responsive elements.
Molecular basis of arrhythmic substrate in ageing murine peroxisome proliferator-activated receptor gamma co-activator deficient hearts modelling mitochondrial dysfunction.
Title: Molecular basis of arrhythmic substrate in ageing murine peroxisome proliferator-activated receptor γ co-activator deficient hearts modelling mitochondrial dysfunction.
Thus, while gestation and gross development were conserved in Cx40(-/-)Panx1(-/-) mice, they exhibit cardiac hypertrophy, hypertension, and impaired endothelial-mediated vasodilation that phenocopies Cx40(-/-) mice.
Title: Ablation of both Cx40 and Panx1 results in similar cardiovascular phenotypes exhibited in Cx40 knockout mice.
findings reveal a role of Cx40 in regulation of ROCK1 and MLC20 that contributes critically to lung vascular barrier failure in acute lung injury.
Title: Connexin 40 regulates lung endothelial permeability in acute lung injury via the ROCK1-MYPT1- MLC20 pathway.
Deletion of Cx40 decreases the calcium sensitivity of renin-secreting juxtaglomerular cells.
Title: Lack of connexin 40 decreases the calcium sensitivity of renin-secreting juxtaglomerular cells.

Submit: New GeneRIF Correction See all GeneRIFs (81)

Variation

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Alleles

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

Targeted (8) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

PMC203028P1 (e-PCR)
- UniSTS:271896

Gja5 (e-PCR), detects polymorphism
- UniSTS:496769

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

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

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables connexin binding	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
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	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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in AV node cell to bundle of His cell communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within atrial ventricular junction remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel diameter maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bundle of His cell to Purkinje myocyte communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac conduction system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell communication by chemical coupling	ISO Inferred from Sequence Orthology more info
involved_in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell communication by electrical coupling involved in cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within foramen ovale closure	IMP Inferred from Mutant Phenotype more info	PubMed
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 mitral valve development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of blood pressure	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of glomerular filtration	ISO Inferred from Sequence Orthology more info
involved_in outflow tract morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell communication by chemical coupling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vasoconstriction	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in pulmonary valve formation	ISO Inferred from Sequence Orthology more info
involved_in regulation of AV node cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of membrane depolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of renin secretion into blood stream	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of systemic arterial blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of regulation of ventricular cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within renal system process involved in regulation of systemic arterial blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within septum primum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasodilation	ISO Inferred from Sequence Orthology more info
involved_in vasomotion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular septum development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	ISO Inferred from Sequence Orthology more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	ISO Inferred from Sequence Orthology more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation 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 i; connexin-40; 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.

mRNA and Protein(s)

NM_001271628.1 → NP_001258557.1 gap junction alpha-5 protein

See identical proteins and their annotated locations for NP_001258557.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC124473

Consensus CDS

CCDS17652.1

UniProtKB/Swiss-Prot

Q01231

UniProtKB/TrEMBL

A0A654ICB8, Q8CAG8

Conserved Domains (2) summary

pfam00029
Location:3 → 231

Connexin

pfam16791
Location:257 → 358

Connexin40_C; Connexin 40 C-terminal domain
NM_008121.3 → NP_032147.1 gap junction alpha-5 protein

See identical proteins and their annotated locations for NP_032147.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BB621080, BC053054

Consensus CDS

CCDS17652.1

UniProtKB/Swiss-Prot

Q01231

UniProtKB/TrEMBL

A0A654ICB8, Q8CAG8

Related

ENSMUSP00000088264.6, ENSMUST00000072600.7

Conserved Domains (2) summary

pfam00029
Location:3 → 231

Connexin

pfam16791
Location:257 → 358

Connexin40_C; Connexin 40 C-terminal domain