GJD2 (gap junction protein delta 2)

2014-11-01 Affiliation

Identity

HGNC

GJD2

LOCATION

15q14

LOCUSID

57369

ALIAS

CX36,GJA9

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: 57369
MIM: 607058
HGNC: 19154
Ensembl: ENSG00000159248

Variants:

dbSNP: 57369
ClinVar: 57369
TCGA: ENSG00000159248
COSMIC: GJD2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000159248	ENST00000290374	Q9UKL4

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
Gap junction	KEGG	ko04540
Gap junction	KEGG	hsa04540
Neuronal System	REACTOME	R-HSA-112316
Transmission across Electrical Synapses	REACTOME	R-HSA-112307
Electric Transmission Across Gap Junctions	REACTOME	R-HSA-112303
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
20835239	2010	A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.	89
20835239	2010	A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.	89
19095792	2008	The neuronal connexin36 interacts with and is phosphorylated by CaMKII in a way similar to CaMKII interaction with glutamate receptors.	60
16211561	2005	Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons.	42
15116387	2004	Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice.	40
19000992	2009	Cx36 makes channels coupling human pancreatic beta-cells, and correlates with insulin expression.	37
17828386	2007	Beta cells preferentially exchange cationic molecules via connexin 36 gap junction channels.	23
15235036	2004	Association of the connexin36 gene with juvenile myoclonic epilepsy.	19
12522556	2003	Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.	18
14565956	2003	Critical role of the transcriptional repressor neuron-restrictive silencer factor in the specific control of connexin36 in insulin-producing cell lines.	18

Citation

Dessen P

GJD2 (gap junction protein delta 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63801/gjd2