The ATP1A2 gene homepage

General information
Gene symbol ATP1A2
Gene name ATPase, Na+/K+ transporting, alpha 2 polypeptide
Chromosome 1
Chromosomal band q23.2
Imprinted Unknown
Genomic reference LRG_6
Transcript reference NM_000702.3
Exon/intron information NM_000702.3 exon/intron table
Associated with diseases AHC1, FHM2, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Lisanne Vijfhuizen
Total number of public variants reported 446
Unique public DNA variants reported 175
Individuals with public variants 540
Hidden variants 10
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. The database was initiated by Paola Carrera and Stefania Battistini as part of the Familial Hemiplegic Migraine (FHM) Variation Databases and curated until July 2012.
Date created June 21, 2004
Date last updated February 26, 2024
Version ATP1A2:240226

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_000702.3.
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 https://www.LOVD.nl/ATP1A2
HGNC 800
Entrez Gene 477
PubMed articles ATP1A2
OMIM - Gene 182340
OMIM - Diseases AHC1 (hemiplegia, alternating, of childhood, type 1 (AHC1))
FHM2 (migraine, hemiplegic, familial, type 2 (FHM-2))
HGMD ATP1A2
GeneCards ATP1A2
GeneTests ATP1A2
Orphanet ATP1A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003059 1 ATPase, Na+/K+ transporting, alpha 2 polypeptide NM_000702.3 NP_000693.1 446


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