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Aliases for ATP1A2 Gene

Aliases for ATP1A2 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 2 2 3 5
  • Sodium Pump Subunit Alpha-2 2 3 4
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-2 2 3
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-2 2 3
  • Na(+)/K(+) ATPase Alpha-2 Subunit 3 4
  • EC 3.6.3.9 4 61
  • ATPase, Na+/K+ Transporting, Alpha 2 (+) Polypeptide 2
  • Sodium/Potassium-Transporting ATPase Alpha-2 Chain 3
  • ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide 2
  • Na+/K+ ATPase, Alpha-A(+) Catalytic Polypeptide 3
  • ATPase Na+/K+ Transporting Alpha 2 Polypeptide 3
  • Na+/K+ ATPase, Alpha-B Polypeptide 3
  • Migraine, Hemiplegic 2 2
  • KIAA0778 4
  • EC 3.6.3 61
  • FHM2 3
  • MHP2 3

External Ids for ATP1A2 Gene

Previous HGNC Symbols for ATP1A2 Gene

  • MHP2

Previous GeneCards Identifiers for ATP1A2 Gene

  • GC01P157877
  • GC01P155817
  • GC01P156863
  • GC01P157302
  • GC01P156883
  • GC01P158353
  • GC01P131442

Summaries for ATP1A2 Gene

Entrez Gene Summary for ATP1A2 Gene

  • The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]

GeneCards Summary for ATP1A2 Gene

ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2) is a Protein Coding gene. Diseases associated with ATP1A2 include Alternating Hemiplegia Of Childhood and Migraine, Familial Hemiplegic, 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP1A1.

UniProtKB/Swiss-Prot for ATP1A2 Gene

  • This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.

Tocris Summary for ATP1A2 Gene

  • The Na+/K+ ATPase is a membrane protein that is composed of two subunits - alpha and beta. The pump maintains an essential electrochemical gradient within cells through the active transport of sodium (Na+) and potassium (K+) ions.

Gene Wiki entry for ATP1A2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1A2 Gene

Genomics for ATP1A2 Gene

Regulatory Elements for ATP1A2 Gene

Enhancers for ATP1A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G160085 1.4 FANTOM5 ENCODE dbSUPER 15.6 -29.3 -29283 1.4 ELF3 HDGF CTCF PKNOX1 ATF1 RB1 ARID4B RAD21 GATA3 GATA2 ATP1A2 KCNJ9 PIGM IGSF8 ATP1A4 KCNJ10 PEA15
GH01G160111 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 -0.4 -442 6.7 ELF3 HDGF ATF1 CBX3 PKNOX1 TBL1XR1 RB1 ARID4B SIN3A ZNF2 ATP1A2 ATP1A4 IGSF8 KCNJ10 KCNJ9 PEA15
GH01G160083 1.4 Ensembl ENCODE dbSUPER 10.3 -31.4 -31364 1.5 FOXA2 MLX SIN3A ARID4B ZNF48 ZNF766 ZNF143 ZNF263 SP5 ZHX2 PIGM ATP1A2 ATP1A4 KCNJ9 IGSF8
GH01G160139 1 dbSUPER 11.9 +25.3 25262 3.3 ZNF493 ZFP64 FOS ZNF263 ZNF202 REST ZNF623 ZNF518A KAT8 ZNF592 ENSG00000228606 RPSAP18 CADM3-AS1 SNHG28 ATP1A4 CASQ1 ATP1A2 KLHDC9 DCAF8 IGSF8
GH01G160216 1 ENCODE dbSUPER 11.1 +102.7 102731 3.3 CTCF CEBPG RAD21 ZNF23 ZBTB48 POLR2A PATZ1 SMC3 PRDM10 ZNF548 NCSTN CASQ1 DCAF8 PEX19 ATP1A2 SLAMF8 NHLH1 IGSF8 SNHG28 ENSG00000228606
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP1A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP1A2 Gene

Chromosome:
1
Start:
160,115,730 bp from pter
End:
160,143,591 bp from pter
Size:
27,862 bases
Orientation:
Plus strand

Genomic View for ATP1A2 Gene

Genes around ATP1A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1A2 Gene

Proteins for ATP1A2 Gene

  • Protein details for ATP1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50993-AT1A2_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit alpha-2
    Protein Accession:
    P50993
    Secondary Accessions:
    • D3DVE4
    • Q07059
    • Q5JW74
    • Q86UZ5
    • Q9UQ25

    Protein attributes for ATP1A2 Gene

    Size:
    1020 amino acids
    Molecular mass:
    112265 Da
    Quaternary structure:
    • Composed of three subunits: alpha (catalytic), beta and gamma.
    SequenceCaution:
    • Sequence=BAA34498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ATP1A2 Gene

Selected DME Specific Peptides for ATP1A2 Gene

P50993:
  • LLWIGAILCF
  • AVETLGS
  • DKLVNERLIS
  • AYGQIGMIQALGGFF
  • HTEIVFARTSPQQKL
  • SSLTGES
  • DHKLSLDEL
  • FTHENPLET
  • NPLETRNI
  • TILCIDLGTD
  • DDHKLSL
  • AVIFLIGIIVANVPEGLLATVTVCLTLTAKRMA
  • QGMKNKILIFGL
  • PADLRII
  • MVTGDHPITAKAIAKGVGIIS
  • SIVTGVEEGRLIFDNLKK
  • GTARGIV
  • DSYGQEWT
  • AYMELGG
  • ESDIMKR
  • KNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWF
  • YDEVRKLI
  • LTPPPTTPEW
  • MRDRNPK
  • WTYEQRK
  • ITGVAVF
  • GDRVPAD
  • HGSDLKD
  • IVVVQWADL
  • EDEPSNDNLYLG
  • PAISLAYE
  • GGFSILLW
  • DKTGTLT
  • LVMKGAPERILDRCS
  • SMIDPPRAAVPDAV
  • ADTTEDQSG
  • SKRDTAGDASESALLKCI
  • YTLTSNIPEI
  • VALRMYP
  • VMKGAPERIL
  • VLAAVVI
  • VFARTSPQQKL
  • ICKTRRNS
  • AAMEDEP
  • QLFGGFS
  • GRIATLASG
  • DDNFASI
  • VGIISEG
  • LASGLEVG
  • ETALAAFL
  • PFNSTNK
  • LVMKGAPER
  • LCFLAYGI
  • DNLYLGVVL
  • AVVIVTG
  • AGDASESALLKCIELSCGSVR
  • IIVANVPEGLLATVTV
  • PADLRIIS
  • IMDSFKN
  • ADIGIAMG
  • TVMGRIA
  • GSDVSKQAADMILLDDNFASIVTGVEEGR
  • AKSSKIM
  • LTAKRMA
  • AENGFLP
  • WWFCAFPYS
  • SMIDPPR
  • TPEWVKFC
  • LSLILGY
  • GGFFTYFVI
  • TGDHPITA
  • VEFTCHT
  • FQQGMKN
  • VPQQALV
  • EADTTEDQSG
  • GPNALTPP
  • AADMILLDDNF
  • IPLPLGT
  • DELKKEV
  • LKDMTSE
  • FFSTNCV
  • VQWADLII
  • LGGLGERVLGFC
  • LCNRAVF
  • DNQIHEADTTE
  • VAVTGDGVNDSPALKKADIG
  • RDGPNAL
  • KVAEIPFN
  • GDLVEVKGGDR
  • KNCLVKNLEAV
  • VVGDLVE
  • KTRRNSVFQQG
  • GREYSPAATT
  • NDLEDSYGQ
  • LEVGRTPI
  • TCHTAFF
  • LRMYPLK
  • EIPFNSTNKYQ
  • GFFTYFVILAENGF
  • ILVQGKEIPLDKEMQDAFQNAY
  • KCRSAGIKV

Post-translational modifications for ATP1A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP1A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP1A2 Gene

Gene Families for ATP1A2 Gene

Graphical View of Domain Structure for InterPro Entry

P50993

UniProtKB/Swiss-Prot:

AT1A2_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
genes like me logo Genes that share domains with ATP1A2: view

Function for ATP1A2 Gene

Molecular function for ATP1A2 Gene

GENATLAS Biochemistry:
ATPase,Na+K+,alpha 2 polypeptide
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In).
UniProtKB/Swiss-Prot Function:
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.

Enzyme Numbers (IUBMB) for ATP1A2 Gene

Gene Ontology (GO) - Molecular Function for ATP1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005391 contributes_to sodium:potassium-exchanging ATPase activity IEA,IMP 23954377
GO:0005515 protein binding IPI 23954377
GO:0005524 contributes_to ATP binding IEA,IMP 23954377
GO:0008144 contributes_to drug binding IPI 23954377
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ATP1A2: view
genes like me logo Genes that share phenotypes with ATP1A2: view

Human Phenotype Ontology for ATP1A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP1A2 Gene

MGI Knock Outs for ATP1A2:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP1A2 Gene

Localization for ATP1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A2 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP1A2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 2

Gene Ontology (GO) - Cellular Components for ATP1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12539047
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex IDA,IC 10636900
GO:0005901 caveola IEA --
genes like me logo Genes that share ontologies with ATP1A2: view

Pathways & Interactions for ATP1A2 Gene

genes like me logo Genes that share pathways with ATP1A2: view

Gene Ontology (GO) - Biological Process for ATP1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake IEA --
GO:0002026 regulation of the force of heart contraction IEA --
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with ATP1A2: view

No data available for SIGNOR curated interactions for ATP1A2 Gene

Drugs & Compounds for ATP1A2 Gene

(13) Drugs for ATP1A2 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved Pharma 0
Rubidium chloride Rb-82 Approved Pharma Carrier, substrate 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Lansoprazole Approved, Investigational Pharma H+,K+-ATPase inhibitor 218

(6) Additional Compounds for ATP1A2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
PF 3716556
928774-43-0

(4) Tocris Compounds for ATP1A2 Gene

Compound Action Cas Number
Lansoprazole H+,K+-ATPase inhibitor 103577-45-3
Omeprazole H+,K+-ATPase inhibitor 73590-58-6
PF 3716556 Selective H+,K+-ATPase inhibitor 928774-43-0
SCH 28080 H+,K+-ATPase inhibitor 76081-98-6

(2) ApexBio Compounds for ATP1A2 Gene

Compound Action Cas Number
Istaroxime hydrochloride Inhibitor of Na+/K+ ATPase 374559-48-5
Lansoprazole sodium PPI/cytochrome P450 inhibitor 226904-00-3
genes like me logo Genes that share compounds with ATP1A2: view

Drug Products

Transcripts for ATP1A2 Gene

Unigene Clusters for ATP1A2 Gene

ATPase, Na+/K+ transporting, alpha 2 polypeptide:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a ·
SP1: - - - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5: - - - - -
SP6: - - - - - - - - - -
SP7:
SP8:
SP9: -
SP10:
SP11:

ExUns: 15b ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c
SP1: - - -
SP2: -
SP3: - - -
SP4:
SP5:
SP6: - - - - - - - -
SP7: - - - - - - - - - -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ATP1A2 Gene

GeneLoc Exon Structure for
ATP1A2
ECgene alternative splicing isoforms for
ATP1A2

Expression for ATP1A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP1A2 Gene

mRNA differential expression in normal tissues according to GTEx for ATP1A2 Gene

This gene is overexpressed in Muscle - Skeletal (x8.0), Brain - Caudate (basal ganglia) (x4.8), Brain - Nucleus accumbens (basal ganglia) (x4.3), and Brain - Putamen (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for ATP1A2 Gene

This gene is overexpressed in Frontal cortex (29.7), Brain (18.8), and Spinal cord (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP1A2 Gene



Protein tissue co-expression partners for ATP1A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP1A2 Gene:

ATP1A2

SOURCE GeneReport for Unigene cluster for ATP1A2 Gene:

Hs.34114

Evidence on tissue expression from TISSUES for ATP1A2 Gene

  • Nervous system(5)
  • Blood(4.2)
  • Muscle(3.4)
  • Heart(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • neck
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with ATP1A2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ATP1A2 Gene

Orthologs for ATP1A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP1A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP1A2 34
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP1A2 34 35
  • 92.22 (n)
dog
(Canis familiaris)
Mammalia ATP1A2 34 35
  • 91.05 (n)
rat
(Rattus norvegicus)
Mammalia Atp1a2 34
  • 90.75 (n)
mouse
(Mus musculus)
Mammalia Atp1a2 34 16 35
  • 90.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
ManyToMany
-- 35
  • 75 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ATP1A2 34
  • 83.48 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a2 34
  • 78.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68460 34
zebrafish
(Danio rerio)
Actinopterygii atp1a2a 34 35
  • 76.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 36 35
  • 76 (a)
CG17923 36
  • 63 (a)
CG3701 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 35 36
  • 72 (a)
OneToMany
C02E7.1 36
  • 35 (a)
Y105E8A.12 36
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 35
  • 27 (a)
ManyToMany
ENA2 35
  • 27 (a)
ManyToMany
ENA5 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToMany
Species where no ortholog for ATP1A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP1A2 Gene

ENSEMBL:
Gene Tree for ATP1A2 (if available)
TreeFam:
Gene Tree for ATP1A2 (if available)

Paralogs for ATP1A2 Gene

Paralogs for ATP1A2 Gene

(9) SIMAP similar genes for ATP1A2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATP1A2: view

Variants for ATP1A2 Gene

Sequence variations from dbSNP and Humsavar for ATP1A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs28933398 Pathogenic, Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] 160,135,845(+) CCGCC(C/T)GATCT reference, missense
rs28933399 Pathogenic, Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] 160,136,665(+) TCGAC(C/T)GGGAT reference, missense
rs28933400 Pathogenic, Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] 160,135,510(+) TGCCA(C/T)GGGCA reference, missense
rs28933401 Pathogenic, Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] 160,135,246(+) TGCTC(A/G)AACGT reference, missense
rs28934002 Pathogenic, Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290] 160,128,767(+) GGGCA(A/C)CCTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ATP1A2 Gene

Variant ID Type Subtype PubMed ID
nsv520189 CNV loss 19592680

Variation tolerance for ATP1A2 Gene

Residual Variation Intolerance Score: 2.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP1A2 Gene

Human Gene Mutation Database (HGMD)
ATP1A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1A2 Gene

Disorders for ATP1A2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ATP1A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT1A2_HUMAN
  • Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO:0000269 PubMed:15174025}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269 PubMed:12539047, ECO:0000269 PubMed:12953268, ECO:0000269 PubMed:21352219, ECO:0000269 PubMed:23838748, ECO:0000269 PubMed:23918834}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP1A2

Genetic Association Database (GAD)
ATP1A2
Human Genome Epidemiology (HuGE) Navigator
ATP1A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1A2
genes like me logo Genes that share disorders with ATP1A2: view

No data available for Genatlas for ATP1A2 Gene

Publications for ATP1A2 Gene

  1. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. (PMID: 18513263) Thomsen L.L. … Olesen J. (Cephalalgia 2008) 3 22 46 64
  2. Association analysis of chromosome 1 migraine candidate genes. (PMID: 17727731) Fernandez F. … Griffiths L.R. (BMC Med. Genet. 2007) 3 22 46 64
  3. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung A.W. … Chan V. (Clin. Endocrinol. (Oxf) 2006) 3 22 46 64
  4. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. (PMID: 12539047) De Fusco M. … Casari G. (Nat. Genet. 2003) 3 4 22 64
  5. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. (PMID: 12953268) Vanmolkot K.R.J. … van den Maagdenberg A.M.J.M. (Ann. Neurol. 2003) 3 4 46 64

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Sources for ATP1A2 Gene

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