GJC2 (gap junction protein gamma 2)

2012-09-01  

Identity

HGNC
GJC2
LOCATION
1q42.13
LOCUSID
57165
ALIAS
CX46.6,Cx47,GJA12,HLD2,LMPH1C,LMPHM3,PMLDAR,SPG44

Other Information

Locus ID:

NCBI: 57165
MIM: 608803
HGNC: 17494
Ensembl: ENSG00000198835

Variants:

dbSNP: 57165
ClinVar: 57165
TCGA: ENSG00000198835
COSMIC: GJC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198835ENST00000366714Q5T442

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
270578222023Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.2
371894582023Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.1
270578222023Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.2
371894582023Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.1
349945182022Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.1
352763472022Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.2
364464002022Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.0
349945182022Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.1
352763472022Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.2
364464002022Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.0
305419632018Connexin 43/47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination.22
305419632018Connexin 43/47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination.22
287120942017Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease.4
287246172017Human venous valve disease caused by mutations in FOXC2 and GJC2.15
287120942017Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease.4

Citation

Dessen P

GJC2 (gap junction protein gamma 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52865