The ATP6V0A2 gene homepage

General information
Gene symbol ATP6V0A2
Gene name ATPase, H+ transporting, lysosomal V0 subunit a2
Chromosome 12
Chromosomal band q24.31
Imprinted Unknown
Genomic reference NG_012743.1
Transcript reference NM_012463.3
Associated with diseases ARCL-2A, ID, WSS
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 183
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 15
Date created October 29, 2013
Date last updated September 28, 2016
Version ATP6V0A2:160928

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:18481
Entrez Gene 23545
PubMed articles ATP6V0A2
OMIM - Gene 611716
OMIM - Diseases ARCL-2A (cutis laxa, autosomal recessive, type IIA (ARCL-2A))
WSS (wrinkly skin syndrome (WSS))
HGMD ATP6V0A2
GeneCards ATP6V0A2
GeneTests ATP6V0A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000723 12 ATPase, H+ transporting, lysosomal V0 subunit a2 NM_012463.3 NP_036595.2 183


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