GJA5 (gap junction protein alpha 5)

2016-10-01  

Identity

HGNC
GJA5
LOCATION
1q21.2
LOCUSID
2702
ALIAS
ATFB11,CX40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2702
MIM: 121013
HGNC: 4279
Ensembl: ENSG00000265107

Variants:

dbSNP: 2702
ClinVar: 2702
TCGA: ENSG00000265107
COSMIC: GJA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000265107ENST00000430508A0A0B4J1Y3
ENSG00000265107ENST00000579774P36382
ENSG00000265107ENST00000579774X5D2H9
ENSG00000265107ENST00000621517P36382
ENSG00000265107ENST00000621517X5D2H9

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction assemblyREACTOMER-HSA-190861

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
167907002006Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.138
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
147669372004Human mesenchymal stem cells make cardiac connexins and form functional gap junctions.62
151178192004Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.52
171893152007Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45.47
152973742004Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation.42
152973742004Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation.42
124353532002Vascular abnormalities in mice lacking the endothelial gap junction proteins connexin37 and connexin40.40
221990242012Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.40
210761612011A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation.30

Citation

Dessen P

GJA5 (gap junction protein alpha 5)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56514/gja5