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ATP8A2 ATPase phospholipid transporting 8A2 [ Homo sapiens (human) ]

Gene ID: 51761, updated on 4-Jun-2020

Summary

Official Symbol
ATP8A2provided by HGNC
Official Full Name
ATPase phospholipid transporting 8A2provided by HGNC
Primary source
HGNC:HGNC:13533
See related
Ensembl:ENSG00000132932 MIM:605870
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IB; ATP; ML-1; ATPIB; CAMRQ4
Summary
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 a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. 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, Jul 2017]
Expression
Biased expression in brain (RPKM 6.4), testis (RPKM 2.7) and 2 other tissues See more
Orthologs

Genomic context

See ATP8A2 in Genome Data Viewer
Location:
13q12.13
Exon count:
46
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (25371974..26025851)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25946209..26599989)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr13.188 Neighboring gene elongin B pseudogene 1 Neighboring gene RNA, U6 small nuclear 78, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 741, pseudogene Neighboring gene uncharacterized LOC105370122 Neighboring gene RNY1 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 415 Neighboring gene shisa family member 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
MedGen: C3808977 OMIM: 615268 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2014-10-10)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2014-10-10)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Genetic variants associated with disordered eating.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434B1913

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
aminophospholipid transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
detection of light stimulus involved in visual perception IEA
Inferred from Electronic Annotation
more info
 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involuntary skeletal muscle contraction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
neurofilament cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling posture IEA
Inferred from Electronic Annotation
more info
 
neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phospholipid translocation IEA
Inferred from Electronic Annotation
more info
 
response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
 
retina layer formation IEA
Inferred from Electronic Annotation
more info
 
skin development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phospholipid-transporting ATPase IB
Names
ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
P4-ATPase flippase complex alpha subunit ATP8A2
probable phospholipid-transporting ATPase IB
NP_001300670.1
NP_057613.4
XP_005266476.1
XP_011533405.1
XP_011533406.1
XP_011533408.1
XP_011533409.1
XP_011533411.1
XP_011533415.1
XP_016876114.1
XP_016876115.1
XP_024305137.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042855.1 RefSeqGene

    Range
    4964..658841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001313741.1NP_001300670.1  phospholipid-transporting ATPase IB isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and lacks an alternate in-frame exon in the central coding region. These differences cause translation initiation at a downstream start codon and result in an isoform (2) with a shorter N-terminus, and lacking an internal segment, compared to isoform 1.
    Source sequence(s)
    AK094653, AK126031, AK127263, AK302980, AL136438, AL138815, AL139004, AL390129, AL669971, BP396213, HY026915
    UniProtKB/Swiss-Prot
    Q9NTI2
    UniProtKB/TrEMBL
    B7Z880, Q6ZSP3, Q6ZU25
    Conserved Domains (6) summary
    TIGR01652
    Location:281041
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:85304
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:466564
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:1779
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8081034
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:776805
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_016529.6NP_057613.4  phospholipid-transporting ATPase IB isoform 1

    See identical proteins and their annotated locations for NP_057613.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF236871, AK094653, AK126031, AK127263, AL136438, AL138815, AL138958, AL139004, AL390129, AL669971, BP396213, DA326706
    Consensus CDS
    CCDS41873.1
    UniProtKB/Swiss-Prot
    Q9NTI2
    UniProtKB/TrEMBL
    Q6ZSP3, Q6ZU25
    Related
    ENSP00000371070.2, ENST00000381655.7
    Conserved Domains (1) summary
    TIGR01652
    Location:681106
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    25371974..26025851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535103.1XP_011533405.1  phospholipid-transporting ATPase IB isoform X1

    Conserved Domains (6) summary
    TIGR01652
    Location:681081
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:125344
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:506604
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:57119
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8481074
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:816845
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. XM_011535106.1XP_011533408.1  phospholipid-transporting ATPase IB isoform X4

    Conserved Domains (6) summary
    TIGR01652
    Location:681051
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:125344
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:506604
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:57119
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8481054
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:816845
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_011535107.3XP_011533409.1  phospholipid-transporting ATPase IB isoform X5

    Conserved Domains (6) summary
    TIGR01652
    Location:681051
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:125344
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:506604
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:57119
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8481054
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:816845
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  4. XM_011535113.2XP_011533415.1  phospholipid-transporting ATPase IB isoform X8

    Related
    ENSP00000281620.6, ENST00000281620.10
    Conserved Domains (3) summary
    pfam00122
    Location:125344
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:506604
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:57119
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
  5. XM_017020626.1XP_016876115.1  phospholipid-transporting ATPase IB isoform X10

  6. XM_017020625.2XP_016876114.1  phospholipid-transporting ATPase IB isoform X9

  7. XM_005266419.1XP_005266476.1  phospholipid-transporting ATPase IB isoform X2

    See identical proteins and their annotated locations for XP_005266476.1

    UniProtKB/Swiss-Prot
    Q9NTI2
    Related
    ENSP00000255283.9, ENST00000255283.9
    Conserved Domains (1) summary
    TIGR01652
    Location:281066
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
  8. XM_011535104.3XP_011533406.1  phospholipid-transporting ATPase IB isoform X3

    Conserved Domains (6) summary
    TIGR01652
    Location:341066
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:85304
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:466564
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:3479
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8081059
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:776805
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  9. XM_011535109.3XP_011533411.1  phospholipid-transporting ATPase IB isoform X6

    See identical proteins and their annotated locations for XP_011533411.1

    Conserved Domains (5) summary
    TIGR01652
    Location:1946
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:2184
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:346444
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:688939
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:656685
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  10. XM_024449369.1XP_024305137.1  phospholipid-transporting ATPase IB isoform X7

    Conserved Domains (1) summary
    TIGR01652
    Location:1908
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187593.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    489..133501 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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