GJD3 (gap junction protein delta 3)

2014-11-01 Affiliation

Identity

HGNC

GJD3

LOCATION

17q21.2

LOCUSID

125111

ALIAS

CX31.9,Cx30.2,GJA11,GJC1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000183153	ENST00000578689	Q8N144

Expression (GTEx)

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

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Gap junction trafficking and regulation	REACTOME	R-HSA-157858
Gap junction trafficking	REACTOME	R-HSA-190828
Gap junction assembly	REACTOME	R-HSA-190861

References

Pubmed ID	Year	Title	Citations
16772377	2006	Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart.	34
12154091	2002	Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1.	32
18291099	2008	Cx30.2 can form heteromeric gap junction channels with other cardiac connexins.	13
19168070	2009	Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system.	12
12881038	2003	Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.	7
12064584	2001	Identification and functional expression of HCx31.9, a novel gap junction gene.	4
17142249	2007	Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.	3

Citation

Dessen P

GJD3 (gap junction protein delta 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63802/gjd3