The GJC2 gene homepage

This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
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
Exon/intron information NM_020435.3 exon/intron table
Associated with diseases HLD2, ID, LMPHM3, SPG44
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Michel van Geel, Élodie Fastré, and Pascal Brouillard
Total number of public variants reported 83
Unique public DNA variants reported 59
Individuals with public variants 17
Hidden variants 25
Download all this gene's data Download all data
Notes This database is one of the "Vascular anomalies and lymphedema" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated December 01, 2023
Version GJC2:231201

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_020435.3.
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
Homepage URL
HGNC 17494
Entrez Gene 57165
PubMed articles GJC2
OMIM - Gene 608803
OMIM - Diseases HLD2 (PMLD1)
LMPHM3 (lymphatic malformation 3)
SPG44 (paraplegia, spastic, type 44, autosomal recessive (SPG-44))
GeneCards GJC2
GeneTests GJC2
Orphanet GJC2

Active transcripts




NCBI ID     

NCBI Protein ID     

00008544 1 gap junction protein, gamma 2, 47kDa NM_020435.3 NP_065168.2 83

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.