Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP8A2 Gene

Aliases for ATP8A2 Gene

  • ATPase Phospholipid Transporting 8A2 2 3
  • ATPase, Aminophospholipid Transporter, Class I, Type 8A, Member 2 2 3 5
  • ATPase, Aminophospholipid Transporter-Like, Class I, Type 8A, Member 2 2 3
  • P4-ATPase Flippase Complex Alpha Subunit ATP8A2 3 4
  • EC 3.6.3.1 4 63
  • ATPIB 3 4
  • ML-1 3 4
  • Probable Phospholipid-Transporting ATPase IB 3
  • ATPase Class I Type 8A Member 2 4
  • EC 3.6.3 63
  • CAMRQ4 3
  • 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

Entrez Gene Summary for ATP8A2 Gene

  • The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

GeneCards Summary for ATP8A2 Gene

ATP8A2 (ATPase Phospholipid Transporting 8A2) 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 Cardiac conduction. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP10A.

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 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

Enhancers for ATP8A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP8A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP8A2 Gene

Chromosome:
13
Start:
25,372,011 bp from pter
End:
26,025,851 bp from pter
Size:
653,841 bases
Orientation:
Plus strand

Genomic View for ATP8A2 Gene

Genes around ATP8A2 on UCSC Golden Path with GeneCards custom track

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

Domains & Families for ATP8A2 Gene

Gene Families for ATP8A2 Gene

Suggested Antigen Peptide Sequences for ATP8A2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NTI2

UniProtKB/Swiss-Prot:

AT8A2_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
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

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

Human Phenotype Ontology for ATP8A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP8A2 Gene

MGI Knock Outs for ATP8A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP8A2

miRNA for ATP8A2 Gene

miRTarBase miRNAs that target ATP8A2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
golgi apparatus 5
plasma membrane 5
endosome 3
cytosol 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 --
genes like me logo Genes that share ontologies with ATP8A2: view

Pathways & Interactions 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:0007568 aging IEA --
GO:0008285 negative regulation of cell proliferation TAS 10551800
GO:0010842 retina layer formation IEA --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0010996 response to auditory stimulus IEA --
genes like me logo Genes that share ontologies with ATP8A2: view

No data available for SIGNOR curated interactions for ATP8A2 Gene

Drugs & Compounds for ATP8A2 Gene

(399) Additional Compounds for ATP8A2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
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:

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 differential expression in normal tissues according to GTEx for ATP8A2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.4), Brain - Cerebellum (x6.2), Pituitary (x5.5), Brain - Hypothalamus (x4.7), Brain - Frontal Cortex (BA9) (x4.5), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for ATP8A2 Gene

This gene is overexpressed in Cervix (47.2) and Heart (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP8A2: view

Protein tissue co-expression partners for ATP8A2 Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia ATP8A2 35
  • 99.89 (n)
  • 99.91 (a)
ATP8A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC691889 35
  • 87.57 (n)
  • 94.95 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP8A2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04015g 35
  • 50.99 (n)
  • 48.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DRS2 35
  • 52.14 (n)
  • 47.55 (a)
DRS2 36
  • 38 (a)
OneToMany
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

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
rs2296242 - 25,961,596(-) GTGTG(A/C/T)GGAGC reference, missense
VAR_069928 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4)
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

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

Variation tolerance for ATP8A2 Gene

Residual Variation Intolerance Score: 2.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP8A2 Gene

Human Gene Mutation Database (HGMD)
ATP8A2

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

Disorders for ATP8A2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATP8A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
  • cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
  • vldlr-associated cerebellar hypoplasia
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • camrq
choanal atresia
  • pca
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP8A2
genes like me logo Genes that share disorders with ATP8A2: view

No data available for Genatlas for ATP8A2 Gene

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 67
  2. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck M.S. … Schlegel R.A. (Physiol. Genomics 1999) 2 3
  3. Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION. (PMID: 26240149) Ansari I.U. … MacDonald M.J. (J. Biol. Chem. 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. P4-ATPases: lipid flippases in cell membranes. (PMID: 24077738) Lopez-Marques R.L. … Pomorski T.G. (Pflugers Arch. 2014) 3

Products for ATP8A2 Gene

Sources for ATP8A2 Gene

Content