ATP6AP2 gene homepage

General information
Gene symbol ATP6AP2
Gene name ATPase, H+ transporting, lysosomal accessory protein 2
Chromosome X
Chromosomal band p11.4
Imprinted Unknown
Genomic reference NG_008874.1
Transcript reference NM_005765.2
Exon/intron information NM_005765.2 exon/intron table
Associated with diseases ID, MRXSH, XPDS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 32
Unique public DNA variants reported 22
Individuals with public variants 15
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 30, 2018
Version ATP6AP2:180730

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_005765.2.
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 https://www.LOVD.nl/ATP6AP2
External URL Orphanet
HGNC 18305
Entrez Gene 10159
PubMed articles ATP6AP2
OMIM - Gene 300556
OMIM - Diseases MRXSH (mental retardation, X-linked, syndromic, Hedera type (MRXSH))
XPDS (Parkinsonism with spasticity, X-linked (XPDS))
HGMD ATP6AP2
GeneCards ATP6AP2
GeneTests ATP6AP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001104 X ATPase, H+ transporting, lysosomal accessory protein 2 NM_005765.2 NP_005756.2 32


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