The GJC2 gene homepage

General information
Gene symbol GJC2
Gene name gap junction protein, gamma 2, 47kDa
Chromosome 1
Chromosomal band q41-q42
Imprinted Unknown
Genomic reference NG_011838.1
Transcript reference NM_020435.3, NR_103539.1
Associated with diseases HLD-2, ID, LMPH-1C, SPG-44
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 59
Unique public DNA variants reported 10
Individuals with public variants 35
Hidden variants -
Date created November 30, -0001
Date last updated September 28, 2016
Version GJC2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:17494
Entrez Gene 57165
PubMed articles GJC2
OMIM - Gene 608803
OMIM - Diseases HLD-2 (PMLD-1)
LMPH-1C (lymphedema, hereditary, type Ic (LMPH-1C))
SPG-44 (paraplegia, spastic, type 44, autosomal recessive (SPG-44))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025567 1 gap junction protein, gamma 2, 47kDa NM_020435.3 NP_065168.2 59
00031892 1 Manually created transcript (removed from reference sequence) NR_103539.1 - -