GJA4 (gap junction protein alpha 4)

2003-11-01  

Identity

HGNC
GJA4
LOCATION
1p34.3
LOCUSID
2701
ALIAS
CX37
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2701
MIM: 121012
HGNC: 4278
Ensembl: ENSG00000187513

Variants:

dbSNP: 2701
ClinVar: 2701
TCGA: ENSG00000187513
COSMIC: GJA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187513ENST00000342280P35212
ENSG00000187513ENST00000450137Q5JW71

Expression (GTEx)

0
50
100
150
200
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
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
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
359025102023Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.5
370723382023Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.1
371979812023Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest.2
359025102023Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.5
370723382023Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.1
371979812023Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest.2
356420472022The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.3
357482442022Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.0
362098712022A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations.2
356420472022The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.3
357482442022Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.0
362098712022A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations.2
339825792021The role of connexin 37 polymorphism in spontaneous abortion.0
339825792021The role of connexin 37 polymorphism in spontaneous abortion.0
315802502020Relationship between SNP rs1764391 and Susceptibility, Risk Factors, Gene-environment Interactions of Acute Myocardial Infarction in Guangxi Han Chinese Population.1

Citation

Dessen P

GJA4 (gap junction protein alpha 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40715/gja4-(gap-junction-protein-alpha-4)