GJD3 (gap junction protein delta 3)

2014-11-01  

Identity

HGNC
GJD3
LOCATION
17q21.2
LOCUSID
125111
ALIAS
CX31.9,Cx30.2,GJA11,GJC1

Other Information

Locus ID:

NCBI: 125111
MIM: 607425
HGNC: 19147
Ensembl: ENSG00000183153

Variants:

dbSNP: 125111
ClinVar: 125111
TCGA: ENSG00000183153
COSMIC: GJD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183153ENST00000578689Q8N144

Expression (GTEx)

0
1
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

References

Pubmed IDYearTitleCitations
331412872020Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.10
331412872020Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.10
191680702009Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system.18
191680702009Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system.18
182910992008Cx30.2 can form heteromeric gap junction channels with other cardiac connexins.15
182910992008Cx30.2 can form heteromeric gap junction channels with other cardiac connexins.15
171422492007Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.4
171422492007Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.4
167723772006Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart.37
167723772006Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart.37
128810382003Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.9
128810382003Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.9
121540912002Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1.35
121540912002Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1.35
120645842001Identification and functional expression of HCx31.9, a novel gap junction gene.5

Citation

Dessen P

GJD3 (gap junction protein delta 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63802/meetings/js/lib/zoomerang.js