Human Gene ATP8A2 (ENST00000381655.7_7) from GENCODE V47lift37
  Description: ATPase phospholipid transporting 8A2, transcript variant 1 (from RefSeq NM_016529.6)
Gencode Transcript: ENST00000381655.7_7
Gencode Gene: ENSG00000132932.19_12
Transcript (Including UTRs)
   Position: hg19 chr13:25,946,112-26,599,989 Size: 653,878 Total Exon Count: 37 Strand: +
Coding Region
   Position: hg19 chr13:25,946,351-26,594,123 Size: 647,773 Coding Exon Count: 37 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:25,946,112-26,599,989)mRNA (may differ from genome)Protein (1188 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AT8A2_HUMAN
DESCRIPTION: RecName: Full=Probable phospholipid-transporting ATPase IB; EC=3.6.3.1; AltName: Full=ATPase class I type 8A member 2; AltName: Full=ML-1;
CATALYTIC ACTIVITY: ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
SEQUENCE CAUTION: Sequence=BAC04396.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATP8A2
Diseases sorted by gene-association score: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4* (1380), cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1* (157), cerebellar ataxia (12), cerebellar ataxia, mental retardation and dysequlibrium syndrome (12), robinow syndrome, autosomal dominant 2 (8), choanal atresia, posterior (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.52 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 97.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -136.20239-0.570 Picture PostScript Text
3' UTR -1762.205866-0.300 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR006539 - ATPase_P-typ_Plipid-transl
IPR023214 - HAD-like_dom

Pfam Domains:
PF00122 - E1-E2 ATPase
PF13246 - Cation transport ATPase (P-type)
PF16209 - Phospholipid-translocating ATPase N-terminal
PF16212 - Phospholipid-translocating P-type ATPase C-terminal

SCOP Domains:
81653 - Calcium ATPase, transduction domain A
56784 - HAD-like
81660 - Metal cation-transporting ATPase, ATP-binding domain N
81665 - Calcium ATPase, transmembrane domain M

ModBase Predicted Comparative 3D Structure on Q9NTI2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0004012 phospholipid-translocating ATPase activity
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0003011 involuntary skeletal muscle contraction
GO:0006869 lipid transport
GO:0007409 axonogenesis
GO:0007568 aging
GO:0008285 negative regulation of cell proliferation
GO:0010842 retina layer formation
GO:0010976 positive regulation of neuron projection development
GO:0010996 response to auditory stimulus
GO:0015914 phospholipid transport
GO:0031175 neuron projection development
GO:0040018 positive regulation of multicellular organism growth
GO:0042472 inner ear morphogenesis
GO:0042755 eating behavior
GO:0043588 skin development
GO:0045332 phospholipid translocation
GO:0048666 neuron development
GO:0050884 neuromuscular process controlling posture
GO:0050908 detection of light stimulus involved in visual perception
GO:0060052 neurofilament cytoskeleton organization
GO:0061092 positive regulation of phospholipid translocation

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0005654 nucleoplasm
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK127263 - Homo sapiens cDNA FLJ45330 fis, clone BRHIP3007195, highly similar to Potential phospholipid-transporting ATPase IB (EC 3.6.3.13).
BC156471 - Synthetic construct Homo sapiens clone IMAGE:100062981, MGC:190651 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 (ATP8A2) mRNA, encodes complete protein.
BC172535 - Synthetic construct Homo sapiens clone IMAGE:100069229, MGC:199240 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 (ATP8A2) mRNA, encodes complete protein.
AK126031 - Homo sapiens cDNA FLJ44043 fis, clone TESTI4029836, highly similar to Potential phospholipid-transporting ATPase IB (EC 3.6.3.13).
AK302980 - Homo sapiens cDNA FLJ61731 complete cds, highly similar to Probable phospholipid-transporting ATPase IB (EC 3.6.3.1).
BC144228 - Homo sapiens cDNA clone IMAGE:9052748, containing frame-shift errors.
BC144229 - Homo sapiens cDNA clone IMAGE:9052749.
AF236871 - Homo sapiens ML-1 protein mRNA, complete cds.
BX537836 - Homo sapiens mRNA; cDNA DKFZp686K0636 (from clone DKFZp686K0636).
AK094653 - Homo sapiens cDNA FLJ37334 fis, clone BRAMY2020354, highly similar to POTENTIAL PHOSPHOLIPID-TRANSPORTING ATPASE IB (EC 3.6.1.-).
AL137256 - Homo sapiens mRNA; cDNA DKFZp434B1913 (from clone DKFZp434B1913); partial cds.
AK310254 - Homo sapiens cDNA, FLJ17296.
AL390129 - Homo sapiens mRNA; cDNA DKFZp761K0912 (from clone DKFZp761K0912).
JD208513 - Sequence 189537 from Patent EP1572962.
JD451880 - Sequence 432904 from Patent EP1572962.
JD526663 - Sequence 507687 from Patent EP1572962.
JD205018 - Sequence 186042 from Patent EP1572962.
AK022096 - Homo sapiens cDNA FLJ12034 fis, clone HEMBB1001906.
JD132078 - Sequence 113102 from Patent EP1572962.
JD264014 - Sequence 245038 from Patent EP1572962.
JD330491 - Sequence 311515 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NTI2 (Reactome details) participates in the following event(s):

R-HSA-939763 P-type ATPases type IV transport external-facing APLs to internal side of the plasma membrane
R-HSA-947591 P-type ATPases type IV transport internal-facing APLs to external side of the plasma membrane
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AT8A2_HUMAN, ATP8A2 , ATPIB, ENST00000381655.1, ENST00000381655.2, ENST00000381655.3, ENST00000381655.4, ENST00000381655.5, ENST00000381655.6, NM_016529, Q6ZSP3, Q9H527, Q9NPU6, Q9NTI2, Q9NTL2, Q9NYM3, uc318qjz.1, uc318qjz.2
UCSC ID: ENST00000381655.7_7
RefSeq Accession: NM_016529.6
Protein: Q9NTI2 (aka AT8A2_HUMAN or A8A2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.