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Aliases for ATP8A2 Gene

Aliases for ATP8A2 Gene

  • ATPase, Aminophospholipid Transporter, Class I, Type 8A, Member 2 2 3
  • ATPIB 3 4 6
  • ATPase, Aminophospholipid Transporter-Like, Class I, Type 8A, Member 2 2 3
  • P4-ATPase Flippase Complex Alpha Subunit ATP8A2 3 4
  • ATPase Class I Type 8A Member 2 3 4
  • EC 3.6.3.1 4 63
  • CAMRQ4 3 6
  • ML-1 3 4
  • Probable Phospholipid-Transporting ATPase IB 3
  • Phospholipid-Transporting ATPase IB 3
  • EC 3.6.3 63
  • ATP 3
  • IB 3

External Ids for ATP8A2 Gene

Previous GeneCards Identifiers for ATP8A2 Gene

  • GC13P024113
  • GC13P020107
  • GC13P024973
  • GC13P023841
  • GC13P024844
  • GC13P025946
  • GC13P006857

Summaries for ATP8A2 Gene

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 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include magnesium ion binding and phospholipid-translocating ATPase activity. An important paralog of this gene is ATP8B4.

UniProtKB/Swiss-Prot for ATP8A2 Gene

  • Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP8A2 Gene

Genomics for ATP8A2 Gene

Regulatory Elements for ATP8A2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP8A2 Gene

Start:
25,372,071 bp from pter
End:
26,025,851 bp from pter
Size:
653,781 bases
Orientation:
Plus strand

Genomic View for ATP8A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP8A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP8A2 Gene

Proteins for ATP8A2 Gene

  • Protein details for ATP8A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTI2-AT8A2_HUMAN
    Recommended name:
    Phospholipid-transporting ATPase IB
    Protein Accession:
    Q9NTI2
    Secondary Accessions:
    • Q9H527
    • Q9NPU6
    • Q9NTL2
    • Q9NYM3

    Protein attributes for ATP8A2 Gene

    Size:
    1148 amino acids
    Molecular mass:
    129242 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit. Interacts with TMEM30A to form a flippase complex.
    SequenceCaution:
    • Sequence=BAC04396.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP8A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP8A2 Gene

Proteomics data for ATP8A2 Gene at MOPED

Post-translational modifications for ATP8A2 Gene

No Post-translational modifications

Other Protein References for ATP8A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ATP8A2 Gene

Gene Families for ATP8A2 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

Suggested Antigen Peptide Sequences for ATP8A2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NTI2

UniProtKB/Swiss-Prot:

AT8A2_HUMAN :
  • Q9NTI2
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
genes like me logo Genes that share domains with ATP8A2: view

Function for ATP8A2 Gene

Molecular function for ATP8A2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2)
UniProtKB/Swiss-Prot EnzymeRegulation: ATPase activity is stimulated by phosphatidylserine (PS) and minimally by phosphatidylethanolamine (PE). ATPase activity is inhibited by N-ethylmaleimide (NEM) and vanadate. Flippase activity is inhibited by NEM and 1,2-dioleoyl-sn-glycero-3-phospho-L-serine (DOPS) (By similarity).
UniProtKB/Swiss-Prot Function: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival

Enzyme Numbers (IUBMB) for ATP8A2 Gene

Gene Ontology (GO) - Molecular Function for ATP8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0000287 magnesium ion binding IEA --
GO:0004012 phospholipid-translocating ATPase activity IBA --
GO:0005524 ATP binding IEA --
GO:0019829 cation-transporting ATPase activity --
genes like me logo Genes that share ontologies with ATP8A2: view
genes like me logo Genes that share phenotypes with ATP8A2: view

Animal Model Products

CRISPR Products

miRNA for ATP8A2 Gene

miRTarBase miRNAs that target ATP8A2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP8A2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ATP8A2 Gene

Localization for ATP8A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP8A2 Gene

Membrane; Multi-pass membrane protein. Golgi apparatus. Endosome. Cell projection, cilium, photoreceptor outer segment. Cell membrane. Note=Localizes to the Golgi and endosomes in photoreceptor cells. Localizes to disk membranes of rod photoreceptor outer segments (ROS) (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP8A2 Gene COMPARTMENTS Subcellular localization image for ATP8A2 gene
Compartment Confidence
plasma membrane 3
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATP8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA 20947505
GO:0005886 plasma membrane IDA 20947505
GO:0016020 membrane --
genes like me logo Genes that share ontologies with ATP8A2: view

Pathways for ATP8A2 Gene

genes like me logo Genes that share pathways with ATP8A2: view

Pathways by source for ATP8A2 Gene

Interacting Proteins for ATP8A2 Gene

Gene Ontology (GO) - Biological Process for ATP8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003011 involuntary skeletal muscle contraction IEA --
GO:0007409 axonogenesis IEA --
GO:0007568 aging IEA --
GO:0008152 metabolic process IEA --
GO:0008285 negative regulation of cell proliferation TAS 10551800
genes like me logo Genes that share ontologies with ATP8A2: view

Compounds for ATP8A2 Gene

(2601) HMDB Compounds for ATP8A2 Gene

Compound Synonyms Cas Number PubMed IDs
PA(16:0/16:0)
  • Dipalmitoylphosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • PA(16:0/18:1n7)
Not Available
PA(16:0/18:1(9Z))
  • PA(16:0/18:1n9)
Not Available
PA(16:0/18:2(9Z,12Z))
  • PA(34:2)
Not Available
PA(16:0e/18:0)
  • 2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
Not Available
genes like me logo Genes that share compounds with ATP8A2: view

Transcripts for ATP8A2 Gene

Unigene Clusters for ATP8A2 Gene

ATPase, aminophospholipid transporter, class I, type 8A, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP8A2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATP8A2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP8A2 Gene

No ASD Table

Relevant External Links for ATP8A2 Gene

GeneLoc Exon Structure for
ATP8A2
ECgene alternative splicing isoforms for
ATP8A2

Expression for ATP8A2 Gene

mRNA expression in normal human tissues for ATP8A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP8A2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (7.4), Brain - Cerebellum (6.2), Pituitary (5.5), Brain - Hypothalamus (4.7), Brain - Frontal Cortex (BA9) (4.5), and Brain - Anterior cingulate cortex (BA24) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ATP8A2 Gene

SOURCE GeneReport for Unigene cluster for ATP8A2 Gene Hs.444957

mRNA Expression by UniProt/SwissProt for ATP8A2 Gene

Q9NTI2-AT8A2_HUMAN
Tissue specificity: Strongly expressed in the brain, cerebellum, retina and testis.
genes like me logo Genes that share expressions with ATP8A2: view

In Situ Assay Products

Orthologs for ATP8A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP8A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP8A2 35
  • 99.89 (n)
  • 99.91 (a)
ATP8A2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP8A2 35
  • 88.15 (n)
  • 94.73 (a)
ATP8A2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP8A2 35
  • 90.97 (n)
  • 96.13 (a)
ATP8A2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp8a2 35
  • 86.7 (n)
  • 94.6 (a)
Atp8a2 16
Atp8a2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP8A2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC691889 35
  • 87.57 (n)
  • 94.95 (a)
chicken
(Gallus gallus)
Aves ATP8A2 35
  • 78.26 (n)
  • 83.21 (a)
ATP8A2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 89 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp8a2 35
  • 75.4 (n)
  • 79.69 (a)
zebrafish
(Danio rerio)
Actinopterygii atp8a2 35
  • 69.98 (n)
  • 77.12 (a)
atp8a2 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42321 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tat-1 36
  • 44 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR350W 35
  • 51.69 (n)
  • 46.68 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DRS2 35
  • 52.14 (n)
  • 47.55 (a)
DRS2 36
  • 38 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04015g 35
  • 50.99 (n)
  • 48.13 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALA3 35
  • 51.11 (n)
  • 45.27 (a)
rice
(Oryza sativa)
Liliopsida Os10g0412000 35
  • 50.94 (n)
  • 45.63 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00352 35
  • 52.57 (n)
  • 47.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC887.12 35
  • 52.36 (n)
  • 48.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for ATP8A2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP8A2 Gene

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

Paralogs for ATP8A2 Gene

Paralogs for ATP8A2 Gene

Pseudogenes.org Pseudogenes for ATP8A2 Gene

genes like me logo Genes that share paralogs with ATP8A2: view

Variants for ATP8A2 Gene

Sequence variations from dbSNP and Humsavar for ATP8A2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs12027 -- 26,025,560(-) TTAAA(C/T)GTGCC utr-variant-3-prime
rs16837 -- 25,650,355(-) GACGA(A/C)ATCAG intron-variant
rs44969 -- 25,902,238(+) ACATT(A/G)TCTAC intron-variant
rs170060 -- 25,935,870(-) TATAG(C/T)GTGCA intron-variant
rs170107 -- 25,800,483(-) ATCAC(G/T)GGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP8A2 Gene

Variant ID Type Subtype PubMed ID
nsv435952 OTHER Inversion 17901297
esv2747161 CNV Deletion 23290073
nsv899943 CNV Gain 21882294
dgv1566n71 CNV Gain 21882294
nsv510596 CNV Loss 20534489
esv2664176 CNV Deletion 23128226
esv274480 CNV Insertion 20981092
esv2674623 CNV Deletion 23128226
nsv521237 CNV Loss 19592680
esv2747171 CNV Deletion 23290073
nsv442665 CNV CNV 18776908
nsv521913 CNV Loss 19592680
esv2676171 CNV Deletion 23128226
esv2747172 CNV Deletion 23290073
nsv967 CNV Insertion 18451855
nsv509500 CNV Insertion 20534489
esv991446 CNV Insertion 20482838
esv2747173 CNV Deletion 23290073
esv2676367 CNV Deletion 23128226
nsv832569 CNV Loss 17160897
nsv899946 CNV Gain 21882294

Relevant External Links for ATP8A2 Gene

HapMap Linkage Disequilibrium report
ATP8A2
Human Gene Mutation Database (HGMD)
ATP8A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP8A2 Gene

Disorders for ATP8A2 Gene

(1) OMIM Diseases for ATP8A2 Gene (605870)

UniProtKB/Swiss-Prot

AT8A2_HUMAN
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268]: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. {ECO:0000269 PubMed:22892528}. 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). {ECO:0000269 PubMed:20683487}.

Relevant External Links for ATP8A2

Genetic Association Database (GAD)
ATP8A2
Human Genome Epidemiology (HuGE) Navigator
ATP8A2
genes like me logo Genes that share disorders with ATP8A2: view

Publications for ATP8A2 Gene

  1. Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. (PMID: 19778899) Coleman J.A. … Molday R.S. (J. Biol. Chem. 2009) 2 3 23
  2. Changes in levels of normal ML-1 gene transcripts associated with the conversion of human nontumorigenic to tumorigenic phenotypes. (PMID: 10551800) Sun X.L. … Milo G.E. (Gene Expr. 1999) 3 4
  3. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck M.S. … Schlegel R.A. (Physiol. Genomics 1999) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4

Products for ATP8A2 Gene

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