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Gene: GJA5 (gap junction protein alpha 5) Homo sapiens
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Symbol: GJA5
Name: gap junction protein alpha 5
CRRD ID: 736164
Description: Exhibits gap junction channel activity. Involved in several processes, including circulatory system development; gap junction assembly; and regulation of heart contraction. Localizes to connexin complex; integral component of plasma membrane; and intercalated disc. Implicated in atrial fibrillation; atrial standstill 1; familial atrial fibrillation; and tetralogy of Fallot. Biomarker of atrial fibrillation.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATFB11; connexin 40; connexin-40; CX40; gap junction alpha-5 protein; gap junction membrane channel protein alpha 5; gap junction protein alpha 5 40kDa; MGC11185
Orthologs:
Mus musculus (house mouse) : Gja5 (gap junction protein, alpha 5)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gja5 (gap junction protein, alpha 5)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gja5 (gap junction protein alpha 5)
Pan paniscus (bonobo/pygmy chimpanzee) : GJA5 (gap junction protein alpha 5)
Canis lupus familiaris (dog) : GJA5 (gap junction protein alpha 5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gja5 (gap junction protein alpha 5)
Sus scrofa (pig) : GJA5 (gap junction protein alpha 5)
Chlorocebus sabaeus (African green monkey) : GJA5 (gap junction protein alpha 5)
Heterocephalus glaber (naked mole-rat) : Gja5 (gap junction protein alpha 5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1147,756,199 - 147,773,362 (-)EnsemblGRCh38hg38GRCh38
GRCh381147,756,199 - 147,781,127 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371147,228,332 - 147,253,165 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,694,956 - 145,712,108 (-)NCBINCBI36hg18NCBI36
Build 341144,453,708 - 144,457,501NCBI
Celera1121,738,476 - 121,755,641 (+)NCBI
Cytogenetic Map1q21.2NCBI
HuRef1120,641,850 - 120,658,997 (-)NCBIHuRef
CHM1_11149,124,325 - 149,141,488 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on GJA5
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736164
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.