Identity
HGNC
LOCATION
1q42.13
LOCUSID
ALIAS
CX46.6,Cx47,GJA12,HLD2,LMPH1C,LMPHM3,PMLDAR,SPG44
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: 57165
MIM: 608803
HGNC: 17494
Ensembl: ENSG00000198835
Variants:
dbSNP: 57165
ClinVar: 57165
TCGA: ENSG00000198835
COSMIC: GJC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000198835 | ENST00000366714 | Q5T442 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 27057822 | 2023 | Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease. | 2 |
| 37189458 | 2023 | Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47. | 1 |
| 27057822 | 2023 | Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease. | 2 |
| 37189458 | 2023 | Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47. | 1 |
| 34994518 | 2022 | Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax. | 1 |
| 35276347 | 2022 | Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease. | 2 |
| 36446400 | 2022 | Lack 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 |
| 34994518 | 2022 | Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax. | 1 |
| 35276347 | 2022 | Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease. | 2 |
| 36446400 | 2022 | Lack 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 |
| 30541963 | 2018 | Connexin 43/47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination. | 22 |
| 30541963 | 2018 | Connexin 43/47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination. | 22 |
| 28712094 | 2017 | Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease. | 4 |
| 28724617 | 2017 | Human venous valve disease caused by mutations in FOXC2 and GJC2. | 15 |
| 28712094 | 2017 | Different 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/gjc2
