GJC2 (gap junction protein gamma 2)

2012-09-01  

Identity

HGNC
LOCATION
1q42.13
LOCUSID
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

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
205373002010GJC2 missense mutations cause human lymphedema.41
173440632007Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.35
190568032009Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.30
212663812011Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.30
223516972012Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.25
180943362008GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.20
235505412013A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.20
170316782007A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.12
169696842007Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.11
194232502010Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.8

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