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ATP12A Gene

protein-coding   GIFtS: 63
GCID: GC13P025254

ATPase, H+/K+ Transporting, Nongastric, Alpha Polypeptide

(Previous names: ATPase, Na+/K+ transporting, alpha polypeptide-like 1)
(Previous symbol: ATP1AL1)
  See ATP12A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, H+/K+ Transporting, Nongastric, Alpha Polypeptide1 2     EC 3.6.3.103 8
ATP1AL11 2 3 5     ATPase1
Proton Pump1 2 3     Alpha Polypeptide-Like1
ATPase, Na+/K+ Transporting, Alpha Polypeptide-Like 11 2     Alpha-1 Polypeptide-Like1
Non-Gastric H(+)/K(+) ATPase Alpha Subunit1 2     Na+K+ Transporting1
Potassium-Transporting ATPase Alpha Chain 21 2     Sodium/Potassium ATPase1
Non-Gastric H(+)/K(+) ATPase Subunit Alpha2 3     EC 3.6.38

External Ids:    HGNC: 138161   Entrez Gene: 4792   Ensembl: ENSG000000756737   OMIM: 1823605   UniProtKB: P547073   

Export aliases for ATP12A gene to outside databases

Previous GC identifers: GC13P023234 GC13P019234 GC13P024184 GC13P023052 GC13P024152 GC13P006067


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP12A Gene:
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a
catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the
exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in
various tissues. Two transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jun 2010)

GeneCards Summary for ATP12A Gene:
ATP12A (ATPase, H+/K+ transporting, nongastric, alpha polypeptide) is a protein-coding gene. Diseases associated with ATP12A include dyskinesia of esophagus, and gastric outlet obstruction. GO annotations related to this gene include hydrogen:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1A2.

UniProtKB/Swiss-Prot: AT12A_HUMAN, P54707
Function: Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma
membrane. Responsible for potassium absorption in various tissues

Gene Wiki entry for ATP12A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP12A gene promoter:
         GR   ISGF-3   Sox5   GR-beta   MZF-1   POU2F1   POU2F1a   GR-alpha   LyF-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP12A promoter sequence
   Search Chromatin IP Primers for ATP12A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP12A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.12|13q12.1-q12.3   Ensembl cytogenetic band:  13q12.12   HGNC cytogenetic band: 13q11-q12.1

ATP12A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP12A gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P025254:  view genomic region     (about GC identifiers)

Start:
25,254,549 bp from pter      End:
25,285,923 bp from pter
Size:
31,375 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT12A_HUMAN, P54707 (See protein sequence)
Recommended Name: Potassium-transporting ATPase alpha chain 2  
Size: 1039 amino acids; 115511 Da
Subunit: Composed of two subunits: alpha (catalytic) and beta
Secondary accessions: Q13816 Q13817 Q16734 Q5W035 Q8N5U2
Alternative splicing: 2 isoforms:  P54707-1   P54707-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP12A: NX_P54707

Explore proteomics data for ATP12A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys627, Lys640, Lys713
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP12A (P54707) (see all 37)
     AVETLGS  DDNFASI  SSLTGES  PFNSTNK 


    See ATP12A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001172014.1  NP_001667.4  

    ENSEMBL proteins: 
     ENSP00000371372   ENSP00000218548  
    Reactome Protein details: P54707

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: ATP12A
    H+/K+-ATPase

    Selected InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR005775 ATPase_P-typ_Na/K_IIC
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    Graphical View of Domain Structure for InterPro Entry P54707

    ProtoNet protein and cluster: P54707

    4 Blocks protein domains:
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB006069 Sodium/potassium-transporting ATPase signature
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT12A_HUMAN, P54707
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily


    Find genes that share domains with ATP12A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT12A_HUMAN, P54707
    Function: Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma
    membrane. Responsible for potassium absorption in various tissues
    Catalytic activity: ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In)

         Enzyme Numbers (IUBMB): EC 3.6.3.101 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0008900hydrogen:potassium-exchanging ATPase activity IEA--
    GO:0015077monovalent inorganic cation transmembrane transporter activity ----
         
    Find genes that share ontologies with ATP12A           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp12a):
     digestive/alimentary  growth/size/body  homeostasis/metabolism  renal/urinary system 

    Find genes that share phenotypes with ATP12A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atp12atm1Ges for ATP12A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP12A
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT12A_HUMAN, P54707: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    vacuole3
    cytosol2
    endoplasmic reticulum2
    endosome2
    extracellular2
    golgi apparatus2
    lysosome2
    mitochondrion2
    chloroplast1
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005889hydrogen:potassium-exchanging ATPase complex TAS8838794
    GO:0016021integral component of membrane ----
    GO:0016323basolateral plasma membrane IEA--

    Find genes that share ontologies with ATP12A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP12A About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    2Ion channel transport
    Ion channel transport0.58
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Sodium coupled transporters and pumps
    Sodium coupled transporters and pumps
    5Ion transport by P-type ATPases
    Ion transport by P-type ATPases


    Find genes that share SuperPaths with ATP12A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP12A
        Ion transport by P-type ATPases


    1 Kegg Pathway  (Kegg details for ATP12A):
        Oxidative phosphorylation

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP12A: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP12A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP12A (P547073 ENSP000003713724) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMEP084733, ENSP000003536794I2D: score=2 STRING: ENSP00000353679
    ATP4AENSP000002626234STRING: ENSP00000262623
    PPA1ENSP000003623294STRING: ENSP00000362329
    LHPPENSP000003578354STRING: ENSP00000357835
    PPA2ENSP000003438854STRING: ENSP00000343885
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006754ATP biosynthetic process IEA--
    GO:0006812cation transport ----
    GO:0006885regulation of pH IEA--
    GO:0015672monovalent inorganic cation transport ----
    GO:0034220ion transmembrane transport TAS--

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for ATP12A (AT12A)

    6 HMDB Compounds for ATP12A    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PantoprazolePantoloc (see all 6)102625-70-7--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    PotassiumK+ (see all 16)7440-09-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 Novoseek inferred chemical compound relationships for ATP12A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ouabain 58.9 2 9774385 (1), 7485470 (1)
    hydrogen 23.2 1 7485470 (1)
    potassium 23.1 2 7485470 (1), 9872395 (1)



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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP12A gene (2 alternative transcripts): 
    NM_001185085.1  NM_001676.5  

    Unigene Cluster for ATP12A:

    ATPase, H+/K+ transporting, nongastric, alpha polypeptide
    Hs.147111  [show with all ESTs]
    Unigene Representative Sequence: NM_001185085
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381946 ENST00000218548(uc001upp.3 uc010aaa.3)
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    Additional mRNA sequence: 

    AK292968.1 AK303498.1 BC031609.1 M16797.1 U02076.1 

    5 DOTS entries:

    DT.97816830  DT.206242  DT.100775534  DT.75195070  DT.91740316 

    16 AceView cDNA sequences:

    M16797 CA450333 BG182394 NM_001676 BC031609 U02076 BX369338 BX369337 
    BX105429 AA366996 CD612453 BX382083 BF512669 BU682695 BM982192 AI190608 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ATP12A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:              -                                         -                                                                                                   
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            

    ExUns: 24b
    SP1:      
    SP2:      
    SP3:      


    ECgene alternative splicing isoforms for ATP12A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP12A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAAAGCTG
    ATP12A Expression
    About this image


    ATP12A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
    ATP12A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP12A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.147111

    UniProtKB/Swiss-Prot: AT12A_HUMAN, P54707
    Tissue specificity: Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is
    increased in benign prostate hyperplasia and tumor tissues (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP12A: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP12A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATP12A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp12a1 , 5 ATPase, H+/K+ transporting, nongastric, alpha polypeptide1, 5 85.15(n)1
    86.96(a)1
      14 (28.19 cM)5
    1921131  NM_138652.21  NP_619593.21 
     563650685 
    chicken
    (Gallus gallus)
    Aves ATP12A1 ATPase, H+/K+ transporting, nongastric, alpha polypeptide 76.51(n)
    81.51(a)
      419743  NM_001030909.1  NP_001026080.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP12A6
    ATPase, H+/K+ transporting, nongastric, alpha poly...
    82(a)
    1 ↔ 1
    GL343396.1(25-15248)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045045.12   -- 75.78(n)    BC045045.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp1a1a.36
    ATPase, Na+/K+ transporting, alpha 1a polypeptide,...
    61(a)
    many ↔ many
    1(1562080-1572446) ENSDARG00000039131
    fruit fly
    (Drosophila melanogaster)
    Insecta Atpalpha3 cation transport
    sodium/potassium-exchanging ATPase
    63(a)
    (best of 3)
      93B2   --
    worm
    (Caenorhabditis elegans)
    Secernentea eat-63 Na(+)/K(+) ATPase alpha subunit 59(a)
    (best of 3)
      V(13129245-13132586)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENA16
    ENA26
    (see all 3)
    P-type ATPase sodium pump, involved in Na+ and Li+...
    P-type ATPase sodium pump, involved in Na+ efflux ...
    (see all 3)
    26(a)
    26(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(535192-538467) YDR040C
    IV(531307-534582) YDR039C


    ENSEMBL Gene Tree for ATP12A (if available)
    TreeFam Gene Tree for ATP12A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP12A gene
    ATP1A22  ATP1A42  ATP1A12  ATP4A2  ATP1A32  
    6 SIMAP similar genes for ATP12A using alignment to 1 protein entry:     AT12A_HUMAN:
    ATP1A3    DKFZp666G172    ATP1A1    ATP1A2    ATP4A    ATP1A4

    Find genes that share paralogs with ATP12A           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for ATP12A
    PGOHUM00000240326 PGOHUM00000240916 PGOHUM00000241107


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP12A (see all 973)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs619480691,2
    C,Funtested125255503(+) TACACA/G/TGACGG 2 -- int16NA CSA WA EA 364
    rs1845130361,2
    --25252557(+) GAGAGC/TGGGGA 2 -- us2k10--------
    rs1431602901,2
    C--25252604(+) TATGTC/TGGGTA 2 -- us2k10--------
    rs559316281,2
    C--25252663(+) GTGGAA/GAATCT 2 -- us2k10--------
    rs1892261891,2
    --25252809(+) TCATGC/TTCTGA 2 -- us2k10--------
    rs2009639151,2
    --25252896(+) TTTTT-/TCTTATT 2 -- us2k10--------
    rs1464530111,2
    C--25252897(+) TTTTT-/CTTATT 2 -- us2k10--------
    rs1995940791,2
    C--25252927(+) TGTGA-/AGAGTC 2 -- us2k10--------
    rs37594551,2
    C,F,H--25253077(-) CAAAAA/CAATTA 2 -- us2k15Minor allele frequency- C:0.20NA WA 10
    rs344398081,2
    C--25253098(+) AGAGAC/TGGGGT 2 -- us2k12Minor allele frequency- T:0.00NA 4

    HapMap Linkage Disequilibrium report for ATP12A (25254549 - 25285923 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATP12A (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1956864CNV Deletion18987734
    esv3452CNV Deletion18987735
    esv1009925CNV Deletion20482838
    esv2747151CNV Deletion23290073
    esv2499767CNV Deletion19546169
    esv2747150CNV Deletion23290073
    esv2747149CNV Deletion23290073
    nsv528064CNV Loss19592680
    esv8208CNV Loss19470904
    esv2751140CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP12A
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP12A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182360    OMIM disorders: --

    6 diseases for ATP12A:    
    About MalaCards
    dyskinesia of esophagus    gastric outlet obstruction    hiatus hernia    duodenitis
    bile reflux    laryngitis

    Selected diseases from the University of Copenhagen DISEASES database for ATP12A (see all 22):
    Gastroesophageal reflux disease     Peptic ulcer     Esophagitis     Dyspepsia
    Hiatus hernia     Gastritis     Laryngitis     Diarrhea
    Achalasia     Bile reflux     Gastrinoma     Dyskinesia of esophagus
    Pneumonia     Carcinoma     Duodenitis     Asthma
    Esophageal cancer     Gastric outlet obstruction     Irritable bowel syndrome     Stomach cancer

    Find genes that share disorders with ATP12A           About GenesLikeMe

    1 Novoseek inferred disease relationship for ATP12A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 1 12230809 (1)

    Genetic Association Database (GAD): ATP12A
    Human Genome Epidemiology (HuGE) Navigator: ATP12A (2 documents)

    Export disorders for ATP12A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP12A gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with ATP12A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of the human ATP1AL1 gene encoding a ouabain- sensitive H,K-ATPase. (PubMed id 8838794)1, 2, 3, 9 Sverdlov V.E.... Modyanov N.N. (Genomics 1996)
    2. Cloning and characterization of the entire cDNA encoded by ATP1AL1 -- a member of the human Na,K/H,K-ATPase gene family. (PubMed id 8045293)1, 2, 9 Grishin A.V.... Modyanov N.N. (FEBS Lett. 1994)
    3. The family of human Na,K-ATPase genes. ATP1AL1 gene is transcriptionally competent and probably encodes the related ion transport ATPase. (PubMed id 1847115)1, 2, 9 Modyanov N.N.... Sverdlov E.D. (FEBS Lett. 1991)
    4. Ouabain-sensitive H,K-ATPase: tissue-specific expression of the mammalian genes encoding the catalytic alpha subunit. (PubMed id 9872395)1, 2, 9 Pestov N.B.... Modyanov N.N. (FEBS Lett. 1998)
    5. Expression of the non-gastric H+/K+ ATPase ATP12A in normal and pathological human prostate tissue. (PubMed id 22179016)1, 2 Streif D....Ritter M. (Cell. Physiol. Biochem. 2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. (PubMed id 2842249)1, 3 Yang-Feng T.L....Francke U. (Genomics 1988)
    8. Multiple genes encode the human Na+,K+-ATPase catalytic subunit. (PubMed id 3035563)1, 2 Shull M.M. and Lingrel J.B. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    9. The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. (PubMed id 3036582)1, 2 Sverdlov E.D.... Ovchinnikov Y.A. (FEBS Lett. 1987)
    10. Expression of ATP1AL1, a non-gastric proton pump, in human colorectum. (PubMed id 12230809)1, 9 Takahashi Y....Takeguchi N. (Jpn. J. Physiol. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 479 HGNC: 13816 AceView: ATP12A Ensembl:ENSG00000075673 euGenes: HUgn479
    ECgene: ATP12A Kegg: 479 H-InvDB: ATP12A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATP12A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP12A gene:
    Search GeneIP for patents involving ATP12A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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