GJC3 (gap junction protein gamma 3)

2014-08-01  

Identity

HGNC
GJC3
LOCATION
7q22.1
LOCUSID
349149
ALIAS
CX29,CX30.2,CX31.3,GJE1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 349149
MIM: 611925
HGNC: 17495
Ensembl: ENSG00000176402

Variants:

dbSNP: 349149
ClinVar: 349149
TCGA: ENSG00000176402
COSMIC: GJC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176402ENST00000312891Q8NFK1

Expression (GTEx)

0
10
20
30
40
50
60
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

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
348403902021Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.3
348403902021Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.3
325248382020GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.4
325248382020GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.4
283670852017Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.3
283670852017Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.3
231794052013Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.8
231794052013Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.8
214800022011Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells.11
214800022011Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells.11
196571832010Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method.8
198766482010A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss.4
205931972010Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.11
206328922010Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.3
206328922010Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.3

Citation

Dessen P

GJC3 (gap junction protein gamma 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54333/img/favicon/favicon-16x16.png