About   Help   FAQ
Atp8a2
Gene Detail
Symbol

Name
ID
Atp8a2
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
MGI:1354710
Synonyms
Ib, wl
Feature Type
protein coding gene
Genetic Map
Chromosome 14
31.49 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr14:59647531-60197179 bp, - strand
From VEGA annotation of GRCm38

  549649 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4443  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ATP8A2
Gene Tree: Atp8a2

Human
homologs
ATP8A2, ATPase, aminophospholipid transporter, class I, type 8A, member 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 51761
neXtProt AC: NX_Q9NTI2

Human Synonyms: ATP, ATPIB, CAMRQ4, IB, ML-1

Human Chr (Location): 13q12; chr13:25372011-26025851 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ATP8A2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(2) Spontaneous(4) Targeted(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.
 
Human Diseases Modeled in Mice Using Atp8a2 (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Atp8a2 interacts with 154 markers (Mir10b, Mir20a, Mir24-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (38 annotations)
Process aging, axonogenesis, ...
Component cell projection, endosome, ...
Function ATP binding, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (173)    Tissues (57)    Images (33)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 165
Northern blot 8
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) cDNA(16)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000032689 (Evidence)
Ensembl Gene Model ENSMUSG00000021983 (Evidence)
Entrez Gene 50769 (Evidence)
UniGene 319599
DFCI TC1588380, TC1631392, TC1611132, TC1663588
DoTS DT.481263, DT.110771063, DT.55211018, DT.101704175
NIA Mouse Gene Index U035640
EC 3.6.3.1
Consensus CDS Project CCDS27174.1
International Mouse Phenotyping Consortium Status Atp8a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032689 VEGA Gene Model | MGI Sequence Detail 549649 C57BL/6J ±  kb
transcript OTTMUST00000081340 VEGA | MGI Sequence Detail 3895 Not Applicable 
polypeptide OTTMUSP00000043499 VEGA | MGI Sequence Detail 1148 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(12) UniProt(6)
Polymorphisms
SNPs within 2kb(3274 from dbSNP Build 137)    SNPs within 2kb including multiple locations(3312)
Protein-related
information
ResourceIDDescription
InterPro IPR001757 Cation-transporting P-type ATPase
InterPro IPR023214 HAD-like domain
InterPro IPR006539 Phospholipid-transporting P-type ATPase, subfamily IV
InterPro IPR008250 P-type ATPase, A domain
InterPro IPR023299 P-type ATPase, cytoplasmic domain N
InterPro IPR018303 P-type ATPase, phosphorylation site
Protein Ontology PR:000029291 phospholipid-transporting ATPase IB
References
(Earliest) J:13068 Dickie MM, et al., A juvenile wabbler-lethal in the house mouse. J Hered. 1952;43:283-286
(Latest) J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(53)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-15403, MGD-MRK-15435, MGI:2145631, MGI:98951

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory