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ATP8A2 Gene

protein-coding   GIFtS: 58
GCID: GC13P025946

ATPase, Aminophospholipid Transporter, Class I, Type 8A,...

(Previous names: ATPase, aminophospholipid transporter-like, Class I, type...)
  See 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, Aminophospholipid Transporter, Class I, Type 8A, Member 21 2     CAMRQ42 5
ATPIB2 3 5     ATP2
ATPase, Aminophospholipid Transporter-Like, Class I, Type 8A, Member 21 2     IB2
ML-12 3     Probable Phospholipid-Transporting ATPase IB2
ATPase Class I Type 8A Member 22 3     EC 3.6.38
EC 3.6.3.13 8     

External Ids:    HGNC: 135331   Entrez Gene: 517612   Ensembl: ENSG000001329327   OMIM: 6058705   UniProtKB: Q9NTI23   

Export aliases for ATP8A2 gene to outside databases

Previous GC identifers: GC13P024113 GC13P020107 GC13P024973 GC13P023841 GC13P024844 GC13P006857


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATP8A2 Gene:
ATP8A2 (ATPase, aminophospholipid transporter, class I, type 8A, member 2) is a protein-coding gene. Diseases associated with ATP8A2 include cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, and acute laryngitis. GO annotations related to this gene include phospholipid-translocating ATPase activity and magnesium ion binding. An important paralog of this gene is ATP11A.


(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:
NC_000013.11  NT_024524.15  NC_018924.2  NT_187593.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP8A2 gene promoter:
         E2F-2   RelA   NF-kappaB   S8   E2F-1   POU2F1   E2F   POU2F1a   ARP-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP8A2 promoter sequence
   Search Chromatin IP Primers for ATP8A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP8A2


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

Entrez Gene cytogenetic band: 13q12   Ensembl cytogenetic band:  13q12.13   HGNC cytogenetic band: 13q12

ATP8A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP8A2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P025946:  view genomic region     (about GC identifiers)

Start:
25,946,209 bp from pter      End:
26,599,989 bp from pter
Size:
653,781 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AT8A2_HUMAN, Q9NTI2 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase IB  
Size: 1148 amino acids; 129242 Da
Sequence caution: Sequence=BAC04396.1; Type=Erroneous initiation;
Secondary accessions: Q9H527 Q9NPU6 Q9NTL2 Q9NYM3
Alternative splicing: 2 isoforms:  Q9NTI2-1   Q9NTI2-3   (No experimental confirmation available. Ref.1 (AAF40215) sequence differs from that shown due to a frameshift in position 522)

Explore the universe of human proteins at neXtProt for ATP8A2: NX_Q9NTI2

Explore proteomics data for ATP8A2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP8A2 (Q9NTI2) (see all 25)
     LAIGDGA  TLAIGDG  WVLTGDK  NDVGMIQ 


    See ATP8A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057613.4  
    ENSEMBL proteins: 
     ENSP00000371070   ENSP00000281620   ENSP00000255283  
    Reactome Protein details: Q9NTI2

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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: ATP8A2
    Phospholipid-transporting ATPase

    Selected InterPro protein domains (see all 6):
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase
     IPR018303 ATPase_P-typ_P_site

    Graphical View of Domain Structure for InterPro Entry Q9NTI2

    ProtoNet protein and cluster: Q9NTI2

    2 Blocks protein domains:
    IPB001757 ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT8A2_HUMAN, Q9NTI2
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily


    ATP8A2 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT8A2_HUMAN, Q9NTI2
    Catalytic activity: ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2)

         Enzyme Numbers (IUBMB): EC 3.6.3.11 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0019829cation-transporting ATPase activity IEA--
         
    ATP8A2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atp8a2):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  integument 
     mortality/aging  nervous system  vision/eye 

    ATP8A2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP8A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP8A2
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    miRNA
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    miRTarBase miRNAs that target ATP8A2:
    hsa-mir-16-5p (MIRT032045), hsa-mir-30a-5p (MIRT028669)

    Block miRNA regulation of human, mouse, rat ATP8A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP8A2 (see all 21):
    hsa-miR-4307 hsa-miR-495 hsa-miR-509-5p hsa-miR-200a hsa-miR-141 hsa-miR-629* hsa-miR-7-1* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidATP8A2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP8A2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ATP8A2 (NM_016529)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP8A2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8A2


    (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
    AT8A2_HUMAN, Q9NTI2: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    ATP8A2 for ontologies           About GeneDecksing


    (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 ATP8A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Ion transport by P-type ATPases
    Ion transport by P-type ATPases

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP8A2
        Ion transport by P-type ATPases



    ATP8A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP8A2
    Interactions:

        GeneGlobe Interaction Network for ATP8A2

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

    Selected Interacting proteins for ATP8A2 (ENSP000003710704) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UIMC1ENSP000003664344STRING: ENSP00000366434
    CNOT4ENSP000003546734STRING: ENSP00000354673
    ARFGEF1ENSP000002622154STRING: ENSP00000262215
    ARFGEF2ENSP000003609854STRING: ENSP00000360985
    ATP6V0D1ENSP000002909494STRING: ENSP00000290949
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003011involuntary skeletal muscle contraction IEA--
    GO:0006812cation transport ----
    GO:0007409axonogenesis IEA--
    GO:0007568aging IEA--
    GO:0008285negative regulation of cell proliferation TAS10551800

    ATP8A2 for ontologies           About GeneDecksing



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP8A2 (AT8A2)

    Selected HMDB Compounds for ATP8A2 (see all 2601)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP8A2 gene: 
    NM_016529.4  

    Unigene Cluster for ATP8A2:

    ATPase, aminophospholipid transporter, class I, type 8A, member 2
    Hs.444957  [show with all ESTs]
    Unigene Representative Sequence: AL390129
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381655(uc001uqk.3 uc010tdi.2 uc010tdj.2) ENST00000381648
    ENST00000281620 ENST00000491840(uc010aaj.1) ENST00000255283(uc001uql.1)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP8A2 (see all 21):
    hsa-miR-4307 hsa-miR-495 hsa-miR-509-5p hsa-miR-200a hsa-miR-141 hsa-miR-629* hsa-miR-7-1* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidATP8A2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF236871.2 AK022096.1 AK094653.1 AK126031.1 AK127263.1 AK302980.1 AK310254.1 AL137256.1 
    AL390129.1 BC144228.1 BC144229.1 BX537836.1 

    6 DOTS entries:

    DT.40228510  DT.120764949  DT.100744677  DT.120764891  DT.120764938  DT.91708777 

    Selected AceView cDNA sequences (see all 77):

    BM661934 BE042974 NM_016529 BX281906 AI702177 AK126031 AL137256 BE045613 
    CD251062 Z45816 AI290906 BM670763 C02371 BE551091 BM698672 BM701669 
    AI376848 Z41450 BM725997 AI689908 BE502898 BV195300 AI989494 AW082262 

    GeneLoc Exon Structure


    (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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    ATP8A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP8A2 Expression
    About this image


    ATP8A2 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)
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Brain (Nervous System)
             Medulla Oblongata
    ATP8A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP8A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444957

    UniProtKB/Swiss-Prot: AT8A2_HUMAN, Q9NTI2
    Tissue specificity: Strongly expressed in the brain, cerebellum, retina and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8A2

    (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 eukaryotes.

    Orthologs for ATP8A2 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp8a21 , 5 ATPase, aminophospholipid transporter-like, class I, more1, 5 86.7(n)1
    94.6(a)1
      14 (31.49 cM)5
    507691  NM_015803.21  NP_056618.11 
     596475315 
    chicken
    (Gallus gallus)
    Aves ATP8A21 ATPase, aminophospholipid transporter, class I, type more 78.26(n)
    83.21(a)
      418936  XM_417130.4  XP_417130.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    89(a)
    83(a)
    1 ↔ many
    1 ↔ many
    GL343306.1(285045-371857)
    GL343306.1(435884-519481)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp8a21 ATPase, aminophospholipid transporter, class I, type more 75.4(n)
    79.69(a)
      101730757  XM_004912043.1  XP_004912100.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp8a21 ATPase, aminophospholipid transporter-like, class I, more 69.98(n)
    77.12(a)
      100330943  XM_005162737.1  XP_005162794.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423216
    --
    47(a)
    1 → many
    2R(9302483-9326550)
    worm
    (Caenorhabditis elegans)
    Secernentea tat-16
    Protein TAT-1, isoform b (tat-1) mRNA, complete cd...
    44(a)
    1 → many
    III(12398933-12421523) WBGene00013034
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DRS21 DRS2 52.14(n)
    47.55(a)
      851207   NP_009376.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALA31 ALA3 51.11(n)
    45.27(a)
      842275  NM_104675.2  NP_176191.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g04120001 Os10g0412000 50.94(n)
    45.63(a)
      4348609  NM_001071121.1  NP_001064586.1 


    ENSEMBL Gene Tree for ATP8A2 (if available)
    TreeFam Gene Tree for ATP8A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP8A2 gene
    ATP11A2  ATP8B12  ATP11B2  ATP8A12  ATP11C2  ATP8B42  ATP8B22  ATP8B32  
    16 SIMAP similar genes for ATP8A2 using alignment to 4 protein entries:     AT8A2_HUMAN (see all proteins):
    ATP8A1    DKFZp779H1459    ATP10A    ATP8B4    ATP8B2    ATP8B1
    ATP8B3    DKFZp434P0831    DKFZp686H2093    ATP9B    hMMR1    ATP11A
    ATP11B    ATP11C    ATP9A    ATP10D

    ATP8A2 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ATP8A2
    PGOHUM00000238726 PGOHUM00000258720 PGOHUM00000234650


    (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 ATP8A2 (see all 14108)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699284
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4)4--see VAR_0699282 I M mis40--------
    rs1133936201,2
    C--6927138(+) ATTTAGTGTGT/-
            
    GTGTG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs613590771,2
    C--7185259(+) CATGG-/TGAAACC 1 -- int11Minor allele frequency- TG:0.00NA 2
    rs753925761,2
    F--25944330(+) CTGATA/GAAGAT 1 -- us2k12Minor allele frequency- G:0.05CSA WA 120
    rs1413928941,2
    --25944370(+) GCCCAG/TAAGAG 1 -- us2k10--------
    rs73262331,2
    C--25944682(+) ccgcgT/Gtagcc 1 -- us2k15Minor allele frequency- G:0.00NA WA CSA 9
    rs120173081,2
    C--25944767(+) ccaccG/Acgcgc 1 -- us2k16Minor allele frequency- A:0.00NA WA CSA 11
    rs1442682531,2
    --25944772(+) ACGCGC/TGGCCT 1 -- us2k10--------
    rs1139195191,2
    C,F--25944796(+) TAAGAA/CAATTA 1 -- us2k13Minor allele frequency- C:0.04CSA WA 122
    rs79914661,2
    C,A--25944857(+) gaggcC/Ggaggc 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP8A2 (25946209 - 26196209 bp, first 250kb of ATP8A2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATP8A2 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747172CNV Deletion23290073
    esv2747171CNV Deletion23290073
    esv2747173CNV Deletion23290073
    esv2664176CNV Deletion23128226
    esv2674623CNV Deletion23128226
    esv2676171CNV Deletion23128226
    esv2747161CNV Deletion23290073
    esv2676367CNV Deletion23128226
    esv274480CNV Insertion20981092
    nsv967CNV Insertion18451855

    Human Gene Mutation Database (HGMD): ATP8A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP8A2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP8A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605870   
    OMIM disorders: 615268  
    UniProtKB/Swiss-Prot: AT8A2_HUMAN, Q9NTI2
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268]: A congenital
    cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration disrupting ATP8A2 has been found in a patient with severe mental
    retardation and major hypotonia. Translocation t(10;13)(p12.1;q12.13) (PubMed:20683487)

  • 15 diseases for ATP8A2:    
    About MalaCards
    cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4    acute laryngitis    cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1    epiglottitis
    poliomyelitis    diphtheria    tetanus    meningitis
    laryngitis    pertussis    influenza    liver disease
    bipolar disorder    schizophrenia    neuronitis


    ATP8A2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP8A2
    Human Genome Epidemiology (HuGE) Navigator: ATP8A2 (2 documents)

    Export disorders for ATP8A2 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 ATP8A2 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with ATP8A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. (PubMed id 19778899)1, 3, 9 Coleman J.A....Molday R.S. (J. Biol. Chem. 2009)
    2. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. (PubMed id 22892528)1, 2 Onat O.E....Ozcelik T. (Eur. J. Hum. Genet. 2013)
    3. 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)
    4. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Changes in levels of normal ML-1 gene transcripts associated with the conversion of human nontumorigenic to tumorigenic phenotypes. (PubMed id 10551800)1, 2 Sun X.L....Milo G.E. (Gene Expr. 1999)
    7. Differential expression of putative transbilayer amphipath transporters. (PubMed id 11015572)1, 3 Halleck M.S.... Schlegel R.A. (Physiol. Genomics 1999)
    8. Genetic variants associated with disordered eating. (PubMed id 23568457)1 Wade T.D....Martin N.G. (Int J Eat Disord 2013)
    9. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    10. Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2. (PubMed id 21454556)1 Coleman J.A. and Molday R.S. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 51761 HGNC: 13533 AceView: ATP8A2 Ensembl:ENSG00000132932 euGenes: HUgn51761
    ECgene: ATP8A2 H-InvDB: ATP8A2

    (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)
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    NameDescription
    PharmGKB entry for ATP8A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP8A2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP8A2 gene:
    Search GeneIP for patents involving ATP8A2

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



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