ATP8A2 gene homepage

General information
Gene symbol ATP8A2
Gene name ATPase, aminophospholipid transporter, class I, type 8A, member 2
Chromosome 13
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_042855.1
Transcript reference NM_016529.4
Exon/intron information NM_016529.4 exon/intron table
Associated with diseases CAMRQ, CAMRQ-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 43
Unique public DNA variants reported 35
Individuals with public variants 28
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated March 28, 2020
Version ATP8A2:200328

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_016529.4.
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/ATP8A2
HGNC 13533
Entrez Gene 51761
PubMed articles ATP8A2
OMIM - Gene 605870
OMIM - Diseases CAMRQ-4 (ataxia, cerebellar, mental retardation, and dysequilibrium syndrome, type 4 (CAMRQ-4))
HGMD ATP8A2
GeneCards ATP8A2
GeneTests ATP8A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003128 13 ATPase, aminophospholipid transporter, class I, type 8A, member 2 NM_016529.4 NP_057613.4 43


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