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Aliases for ATP1A3 Gene

Aliases for ATP1A3 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 3 2 3 5
  • Sodium Pump Subunit Alpha-3 2 3 4
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-3 2 3
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-3 2 3
  • ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide 2 3
  • Na(+)/K(+) ATPase Alpha(III) Subunit 3 4
  • Na(+)/K(+) ATPase Alpha-3 Subunit 3 4
  • EC 3.6.3.9 4 61
  • Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit 3
  • Sodium/Potassium-Transporting ATPase Alpha-3 Chain 3
  • Sodium-Potassium-ATPase, Alpha 3 Polypeptide 3
  • Na+/K+ ATPase 3 3
  • Dystonia 12 2
  • EC 3.6.3 61
  • ATP1A1 3
  • CAPOS 3
  • DYT12 3
  • AHC2 3
  • RDP 3

External Ids for ATP1A3 Gene

Previous HGNC Symbols for ATP1A3 Gene

  • DYT12

Previous GeneCards Identifiers for ATP1A3 Gene

  • GC19U990006
  • GC19M042862
  • GC19M047146
  • GC19M047162
  • GC19M042470
  • GC19M038902

Summaries for ATP1A3 Gene

Entrez Gene Summary for ATP1A3 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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for ATP1A3 Gene

ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3) is a Protein Coding gene. Diseases associated with ATP1A3 include Dystonia-12 and Capos Syndrome. 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 ATP1A3 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 ions, providing the energy for active transport of various nutrients.

Tocris Summary for ATP1A3 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 ATP1A3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1A3 Gene

Genomics for ATP1A3 Gene

Regulatory Elements for ATP1A3 Gene

Enhancers for ATP1A3 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
GH19G041957 1.4 ENCODE dbSUPER 11.3 +38.9 38863 2.9 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF526 RABAC1 RPS19 CCDC97 MEGF8 CD79A ATP1A3 ZNF574 ERF TMEM145
GH19G042110 1.5 Ensembl ENCODE dbSUPER 10.4 -116.4 -116375 7.1 HDGF PKNOX1 ATF1 ZNF133 SIN3A ZNF2 GLIS2 GATA2 FOS ZNF263 POU2F2 CIC GSK3A PRR19 PAFAH1B3 MEGF8 ZNF526 DEDD2 ATP1A3 CNFN
GH19G042034 1.2 Ensembl ENCODE 11.8 -37.4 -37368 1.1 PKNOX1 RB1 SIN3A ZNF2 RAD21 ZEB1 GLIS2 ZNF366 ZNF143 EGR2 ZNF574 GRIK5 ATP1A3 POU2F2 EXOSC5 GC19P042029 GC19M042066 PIR58577
GH19G041951 1.2 Ensembl ENCODE 11.3 +45.7 45697 0.4 HDGF FOXA2 PKNOX1 ZNF133 SIN3A ZNF2 GLIS2 ZNF143 FOS ZNF263 ZNF526 CD79A RPS19 ATP1A3 RABAC1 LOC100505585
GH19G042090 1.1 Ensembl ENCODE 11.3 -94.2 -94223 2.3 CBX3 RB1 ZSCAN4 KLF17 ZNF2 RAD21 GLIS2 ZSCAN5C SCRT2 ZNF143 ZNF526 GRIK5 ATP1A3 PIR55136 LOC100505622
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP1A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP1A3 Gene

Chromosome:
19
Start:
41,966,582 bp from pter
End:
41,997,497 bp from pter
Size:
30,916 bases
Orientation:
Minus strand

Genomic View for ATP1A3 Gene

Genes around ATP1A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1A3 Gene

Proteins for ATP1A3 Gene

  • Protein details for ATP1A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13637-AT1A3_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit alpha-3
    Protein Accession:
    P13637
    Secondary Accessions:
    • B7Z2T0
    • B7Z401
    • F5H6J6
    • Q16732
    • Q16735
    • Q969K5

    Protein attributes for ATP1A3 Gene

    Size:
    1013 amino acids
    Molecular mass:
    111749 Da
    Quaternary structure:
    • Composed of three subunits: alpha (catalytic), beta and gamma.

    Alternative splice isoforms for ATP1A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A3 Gene

Selected DME Specific Peptides for ATP1A3 Gene

P13637:
  • LLWIGAILCF
  • AVETLGS
  • DKLVNERLIS
  • PVSQVNPR
  • AYGQIGMIQALGGFF
  • VAGDASESALLKCIEL
  • DNLYLGIVL
  • HTEIVFARTSPQQKL
  • SSLTGES
  • NPLETRNI
  • TILCIDLGTD
  • YDEIRKL
  • LIFVYDE
  • GCKVDNSSLTGESEPQTRSPD
  • AVIFLIGIIVANVPEGLLATVTVCLTLTAKRMA
  • QGMKNKILIFGL
  • PADLRII
  • FFILSLIL
  • GKEQPLDEE
  • MVTGDHPITAKAIAKGVGIIS
  • SIVTGVEEGRLIFDNLKK
  • ESDIMKR
  • ADIGVAMG
  • KNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWF
  • LTPPPTTPEW
  • HGTDLKD
  • WTYEQRK
  • ITGVAVF
  • GDRVPAD
  • IVVVQWADL
  • PAISLAYE
  • GGFSILLW
  • DKTGTLT
  • LVMKGAPERILDRCS
  • RDLDDLKKEVAMTEHKMS
  • SMIDPPRAAVPDAV
  • ADTTEDQSG
  • VNPRDAKA
  • YTLTSNIPEI
  • VALRMYP
  • VMKGAPERIL
  • VLAAVVI
  • VFARTSPQQKL
  • ICKTRRNS
  • GKEQPLD
  • QLFGGFS
  • GRIATLASG
  • DDNFASI
  • TPIAIEIEHF
  • VGIISEG
  • LASGLEVG
  • PFNSTNK
  • ETALAAFL
  • NAYLELGG
  • LVMKGAPER
  • LCFLAYGI
  • KSSKIMESF
  • PADLRIIS
  • IIVANVPEGLLATVTV
  • TVMGRIA
  • GSDVSKQAADMILLDDNFASIVTGVEEGR
  • AKSSKIM
  • LTAKRMA
  • QSGTSFD
  • AENGFLP
  • WWFCAFPYS
  • SMIDPPR
  • TPEWVKFC
  • LSLILGY
  • TGDHPITA
  • ILGYTWL
  • VEFTCHT
  • FQQGMKN
  • VPQQALV
  • EADTTEDQSG
  • GPNALTPP
  • AADMILLDDNF
  • IPLPLGT
  • FFSTNCV
  • VQWADLII
  • LGGLGERVLGFC
  • LCNRAVF
  • DNQIHEADTTE
  • TNKYQLSIHETEDPNDNRYLLVMKGA
  • VAVTGDGVNDSPALKKADIG
  • LVGIRLNWDDR
  • EDSYGQQWT
  • RDGPNAL
  • KVAEIPFN
  • KNCLVKNLEAV
  • VVGDLVE
  • KTRRNSVFQQG
  • NDLEDSYGQ
  • TCHTAFF
  • LRMYPLK
  • EIPFNSTNKYQ
  • KCRSAGIKV

Post-translational modifications for ATP1A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP1A3 Gene

Gene Families for ATP1A3 Gene

Graphical View of Domain Structure for InterPro Entry

P13637

UniProtKB/Swiss-Prot:

AT1A3_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 ATP1A3: view

Function for ATP1A3 Gene

Molecular function for ATP1A3 Gene

GENATLAS Biochemistry:
ATPase,Na+K+,alpha 3 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 ions, providing the energy for active transport of various nutrients.

Enzyme Numbers (IUBMB) for ATP1A3 Gene

Gene Ontology (GO) - Molecular Function for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IEA --
GO:0005391 sodium:potassium-exchanging ATPase activity NAS,IDA 26224839
GO:0005524 ATP binding NAS 15260953
GO:0016787 hydrolase activity IEA --
GO:0031748 D1 dopamine receptor binding IEA --
genes like me logo Genes that share ontologies with ATP1A3: view
genes like me logo Genes that share phenotypes with ATP1A3: view

Human Phenotype Ontology for ATP1A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP1A3 Gene

MGI Knock Outs for ATP1A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP1A3

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP1A3 Gene

Localization for ATP1A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A3 Gene

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 ATP1A3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 15260953
GO:0005794 Golgi apparatus IDA 15260953
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ATP1A3: view

Pathways & Interactions for ATP1A3 Gene

genes like me logo Genes that share pathways with ATP1A3: view

Gene Ontology (GO) - Biological Process for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006883 cellular sodium ion homeostasis IDA 10636900
genes like me logo Genes that share ontologies with ATP1A3: view

No data available for SIGNOR curated interactions for ATP1A3 Gene

Drugs & Compounds for ATP1A3 Gene

(9) Drugs for ATP1A3 Gene - From: DrugBank, ApexBio, HMDB, and Tocris

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

(4) Additional Compounds for ATP1A3 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
sodium
  • Sodium
  • Sodium ion
7440-23-5
PF 3716556
928774-43-0

(4) Tocris Compounds for ATP1A3 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

(1) ApexBio Compounds for ATP1A3 Gene

Compound Action Cas Number
Istaroxime hydrochloride Inhibitor of Na+/K+ ATPase 374559-48-5
genes like me logo Genes that share compounds with ATP1A3: view

Drug Products

Transcripts for ATP1A3 Gene

Unigene Clusters for ATP1A3 Gene

ATPase, Na+/K+ transporting, alpha 3 polypeptide:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - -
SP2:
SP3: - - -
SP4: - -
SP5: - - -
SP6:
SP7: -

ExUns: 21 ^ 22 ^ 23a · 23b ^ 24
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ATP1A3 Gene

GeneLoc Exon Structure for
ATP1A3
ECgene alternative splicing isoforms for
ATP1A3

Expression for ATP1A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP1A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP1A3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.1), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Cortex (x5.0), Brain - Hippocampus (x4.9), and Brain - Hypothalamus (x4.8).

Protein differential expression in normal tissues from HIPED for ATP1A3 Gene

This gene is overexpressed in Retina (17.6), Brain (16.5), Frontal cortex (15.6), Spinal cord (10.3), and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP1A3 Gene



Protein tissue co-expression partners for ATP1A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP1A3 Gene:

ATP1A3

SOURCE GeneReport for Unigene cluster for ATP1A3 Gene:

Hs.515427

Evidence on tissue expression from TISSUES for ATP1A3 Gene

  • Nervous system(5)
  • Eye(3.6)
  • Heart(3.4)
  • Muscle(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • lip
  • mouth
  • neck
  • pharynx
  • salivary gland
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ATP1A3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ATP1A3 Gene

Orthologs for ATP1A3 Gene

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

Orthologs for ATP1A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP1A3 34 35
  • 95.91 (n)
cow
(Bos Taurus)
Mammalia ATP1A3 34 35
  • 93.04 (n)
dog
(Canis familiaris)
Mammalia ATP1A3 34 35
  • 92.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP1A3 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp1a3 34 16 35
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Atp1a3 34
  • 90.27 (n)
chicken
(Gallus gallus)
Aves ATP1A3 34
  • 85.64 (n)
lizard
(Anolis carolinensis)
Reptilia ATP1A3 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a3 34
  • 79.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia atp1a3-prov 34
zebrafish
(Danio rerio)
Actinopterygii atp1a3a 34 35
  • 90 (a)
atp1a3b 34 35
  • 79.5 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12137 34
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 36 34 35
  • 71.72 (n)
CG17923 36
  • 62 (a)
CG3701 36
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002858 34
  • 70.74 (n)
worm
(Caenorhabditis elegans)
Secernentea eat-6 36 34 35
  • 67.04 (n)
C02E7.1 36
  • 34 (a)
Y105E8A.12 36
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 35
  • 26 (a)
ManyToMany
ENA2 35
  • 26 (a)
ManyToMany
ENA5 35
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
OneToMany
Species where no ortholog for ATP1A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 ATP1A3 Gene

ENSEMBL:
Gene Tree for ATP1A3 (if available)
TreeFam:
Gene Tree for ATP1A3 (if available)

Paralogs for ATP1A3 Gene

Paralogs for ATP1A3 Gene

(7) SIMAP similar genes for ATP1A3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATP1A3: view

Variants for ATP1A3 Gene

Sequence variations from dbSNP and Humsavar for ATP1A3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs267606670 Pathogenic, Dystonia 12 (DYT12) [MIM:128235], Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] 41,968,837(-) GGGCC(A/G/T)ATCTG reference, missense
rs387907281 Pathogenic, Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] 41,970,284(-) CGTAC(A/G)AGGCT reference, missense
rs387907282 Pathogenic, Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] 41,970,296(-) CCATC(C/T)CACTG reference, missense
rs398122887 Pathogenic, Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] 41,967,744(-) TCTTC(A/C/G)GGCTG reference, missense
rs534926223 Pathogenic, Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] 41,970,490(+) ATATT(C/G/T)CTGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ATP1A3 Gene

Variant ID Type Subtype PubMed ID
dgv3550n100 CNV gain 25217958
esv2678217 CNV deletion 23128226
esv2718591 CNV deletion 23290073
esv992854 OTHER inversion 20482838
nsv138051 CNV deletion 16902084
nsv520239 CNV loss 19592680
nsv522854 CNV gain 19592680
nsv953580 CNV deletion 24416366

Variation tolerance for ATP1A3 Gene

Residual Variation Intolerance Score: 2.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP1A3 Gene

Human Gene Mutation Database (HGMD)
ATP1A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1A3 Gene

Disorders for ATP1A3 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ATP1A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia-12
  • dystonia 12
capos syndrome
  • cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
alternating hemiplegia of childhood 2
  • ahc2
alternating hemiplegia of childhood
  • ahc
atp1a3-related alternating hemiplegia of childhood
  • alternating hemiplegia of childhood 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT1A3_HUMAN
  • Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]: 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:22842232, ECO:0000269 PubMed:22850527, ECO:0000269 PubMed:23409136}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338]: An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. {ECO:0000269 PubMed:24468074}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dystonia 12 (DYT12) [MIM:128235]: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. {ECO:0000269 PubMed:15260953, ECO:0000269 PubMed:19351654, ECO:0000269 PubMed:19652145}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP1A3

Genetic Association Database (GAD)
ATP1A3
Human Genome Epidemiology (HuGE) Navigator
ATP1A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1A3
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No data available for Genatlas for ATP1A3 Gene

Publications for ATP1A3 Gene

  1. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. (PMID: 17282997) Brashear A. … Ozelius L.J. (Brain 2007) 2 3 22 64
  2. Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. (PMID: 15260953) de Carvalho Aguiar P. … Ozelius L.J. (Neuron 2004) 3 4 22 64
  3. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. (PMID: 24468074) Demos M.K. … Friedman J.M. (Orphanet J. Rare Dis. 2014) 3 4 64
  4. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. (PMID: 23409136) Ishii A. … Hirose S. (PLoS ONE 2013) 3 4 64
  5. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PMID: 22842232) Heinzen E.L. … Goldstein D.B. (Nat. Genet. 2012) 3 4 64

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Sources for ATP1A3 Gene

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