Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp8a2provided by MGI
Official Full Name: ATPase, aminophospholipid transporter-like, class I, type 8A, member 2provided by MGI
Primary source: MGI:MGI:1354710
See related: Ensembl:ENSMUSG00000021983 AllianceGenome:MGI:1354710
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: wl; agil; Atpc1b
Summary: Enables aminophospholipid flippase activity. Involved in several processes, including detection of light stimulus involved in visual perception; positive regulation of cellular component organization; and sensory organ morphogenesis. Acts upstream of or within several processes, including determination of adult lifespan; eating behavior; and involuntary skeletal muscle contraction. Located in Golgi apparatus; endosome; and membrane. Is expressed in several structures, including nervous system; salivary gland; sensory organ; testis; and thymus. Used to study cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome. Human ortholog(s) of this gene implicated in cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4. Orthologous to human ATP8A2 (ATPase phospholipid transporting 8A2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in colon adult (RPKM 3.2), testis adult (RPKM 2.3) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3- D1; 14 31.49 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (59884980..60324363, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (59647531..60086914, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATP8A2 plays a crucial role in photoreceptor and spiral ganglion cell function and survival by maintaining phospholipid composition and contributing to vesicle trafficking.
Title: Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival.
Mutation of a mammalian phosphatidylserine translocase causes axon degeneration and neurodegenerative disease.
Title: Mutations in a P-type ATPase gene cause axonal degeneration.
P4-ATPase Atp8a2 is a phosphatidylserine flippase in photoreceptor disc membranes
Title: Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
vestibulomotor degeneration GeneReviews: Not available
wabbler-lethal GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (7) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14Mit155 (e-PCR), detects polymorphism
- UniSTS:127265

13.MMHAP86FLE1.seq (e-PCR)
- UniSTS:123187

AI415030 (e-PCR)
- UniSTS:160397

BI277866 (e-PCR)
- UniSTS:243880

D14Mit5 (e-PCR), detects polymorphism
- UniSTS:127406

D14Mit65 (e-PCR), detects polymorphism
- UniSTS:127422

D14Mit113 (e-PCR), detects polymorphism
- UniSTS:127216

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled intramembrane lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminophospholipid flippase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylethanolamine flippase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine flippase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine floppase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aminophospholipid translocation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eating behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within involuntary skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurofilament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling posture	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipid translocation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to auditory stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of phospholipid-translocating ATPase complex	IEA Inferred from Electronic Annotation more info
part_of phospholipid-translocating ATPase complex	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phospholipid-transporting ATPase IB

Names: ATPase 8A2, class I; ATPase 8A2, p type; ATPase class I type 8A member 2; ATPase, class 1, member a; P4-ATPase flippase complex alpha subunit ATP8A2; probable phospholipid-transporting ATPase IB

NP_056618.1

EC 7.6.2.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_015803.3 → NP_056618.1 phospholipid-transporting ATPase IB

See identical proteins and their annotated locations for NP_056618.1

Status: VALIDATED

Source sequence(s)

AC123534, AC126684, AC131687, AC159320, AC161375

Consensus CDS

CCDS27174.1

UniProtKB/Swiss-Prot

B2RQF2, P98200

Related

ENSMUSP00000079238.6, ENSMUST00000080368.13

Conserved Domains (6) summary

TIGR01652
Location:28 → 1066

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

pfam00122
Location:85 → 170

E1-E2_ATPase; E1-E2 ATPase

pfam13246
Location:466 → 564

Cation_ATPase; Cation transport ATPase (P-type)

pfam16209
Location:17 → 79

PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

pfam16212
Location:808 → 1059

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

cl21460
Location:776 → 805

HAD_like; Haloacid Dehalogenase-like Hydrolases