GJC1 (gap junction protein gamma 1)

2007-02-01 Affiliation

Identity

HGNC

GJC1

LOCATION

17q21.31

LOCUSID

10052

ALIAS

CX45,GJA7

FUSION GENES

Show Gene Fusions

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: 10052
MIM: 608655
HGNC: 4280
Ensembl: ENSG00000182963

Variants:

dbSNP: 10052
ClinVar: 10052
TCGA: ENSG00000182963
COSMIC: GJC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000182963	ENST00000330514	P36383
ENSG00000182963	ENST00000426548	P36383
ENSG00000182963	ENST00000586267	K7ENT9
ENSG00000182963	ENST00000586347	K7ERH3
ENSG00000182963	ENST00000587113	Q5H9P2
ENSG00000182963	ENST00000587239	K7EQ14
ENSG00000182963	ENST00000590758	P36383
ENSG00000182963	ENST00000591424	K7EM78
ENSG00000182963	ENST00000592524	P36383

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
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
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
14766937	2004	Human mesenchymal stem cells make cardiac connexins and form functional gap junctions.	62
17189315	2007	Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45.	47
21674053	2011	Cytokine effects on gap junction communication and connexin expression in human bladder smooth muscle cells and suburothelial myofibroblasts.	16
20979653	2010	Expression of connexin genes in the human retina.	13
21406965	2011	DNA methylation analyses of the connexin gene family reveal silencing of GJC1 (Connexin45) by promoter hypermethylation in colorectal cancer.	13
24788723	2014	Membrane connexin 43 acts as an independent prognostic marker in oral squamous cell carcinoma.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
16463142	2005	Association with ZO-1 correlates with plasma membrane partitioning in truncated connexin45 mutants.	9
20530971	2010	High-level connexin expression in the human juxtaglomerular apparatus.	6

Citation

Dessen P

GJC1 (gap junction protein gamma 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43640/gjc1