Gja5
Gene Detail

Symbol Name ID

Gja5 gap junction protein, alpha 5 MGI:95716

Synonyms

connexin 40, Cx40, Gja-5

Feature Type

protein coding gene

Genetic Map

Chromosome 3

42.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)

Sequence Map

Chr3:97032416-97053634 bp, + strand From VEGA annotation of GRCm38   21219 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3856  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Gene Tree: Gja5

Human homologs

Human Homolog		GJA5, gap junction protein, alpha 5, 40kDa
NCBI Gene ID		2702
neXtProt AC		NX_P36382
Human Synonyms		ATFB11, CX40
Human Chr (Location)		1q21.1; chr1:147228332-147245484 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GJA5

Alleles and phenotypes

All alleles(9) : Targeted(8) Gene trapped(1)
 

Homozygotes for targeted null mutations exhibit hypertension, cardiac arrhythmias, reduced atrial and ventricular conduction velocities, and impaired conductance of vasodilation in arterioles of skeletal muscle.

 
Human Diseases Modeled Using Mouse Gja5 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (69 annotations)

Process	atrial septum development, atrial septum morphogenesis, ...
Component	cell junction, cell projection, ...
Function	connexin binding, gap junction channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (112 records)
Data Summary: Results (176)    Tissues (65)    Images (52)
Theiler Stages: 13, 15, 19, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	57
RNA in situ	71
Northern blot	14
Western blot	6
RT-PCR	24
RNase protection	4

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(21) Genomic(5) cDNA(7) Primer pair(6) Other(3)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000022046 (Evidence)
Ensembl Gene Model	ENSMUSG00000057123 (Evidence)
Entrez Gene	14613 (Evidence)
UniGene	281816
DFCI	TC1587411, TC1591211, TC1695343
DoTS	DT.101243016, DT.101366354, DT.101721957, DT.94141978
NIA Mouse Gene Index	U003609
Consensus CDS Project	CCDS17652.1
International Mouse Knockout Project Status	Gja5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022046	VEGA Gene Model | MGI Sequence Detail	21219	C57BL/6J
transcript	OTTMUST00000052336	VEGA | MGI Sequence Detail	3109	Not Applicable
polypeptide	OTTMUSP00000024800	VEGA | MGI Sequence Detail	358	Not Applicable

All sequences(33) RefSeq(4) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(117 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000500	Connexin
InterPro	IPR017990	Connexin, conserved site
InterPro	IPR013092	Connexin, N-terminal
InterPro	IPR002264	Gap junction alpha-5 protein (Cx40)
InterPro	IPR019570	Gap junction protein, cysteine-rich domain
Protein Ontology	PR:000007994	gap junction alpha-5 protein

References

(Earliest) J:11073 Willecke K, et al., Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol. 1990 Dec;53(2):275-80
(Latest) J:195274 Cristofaro B, et al., Dll4-Notch signaling determines the formation of native arterial collateral networks and arterial function in mouse ischemia models. Development. 2013 Apr;140(8):1720-9
All references(221)

Other accession IDs

MGD-MRK-10082, MGD-MRK-10088, MGI:1917909