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Symbol ATP8A2 contributors: mct/npt - updated : 17-12-2012
HGNC name ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2
HGNC id 13533
Corresponding disease
CAMRQ4 cerebellar ataxia, mental retardation, with or without quadrupedal locomotion 4
Location 13q12.13      Physical location : 25.946.208 - 26.595.419
Synonym name
  • ML-1 protein
  • probable phospholipid-transporting ATPase IB
  • ATPase class I type 8A member
  • Synonym symbol(s) IB, ATP, ML-1, ATPIB, DKFZP434B1913, LOC51761
    TYPE functioning gene
    STRUCTURE 649.21 kb     37 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC283530 13q12.12 hypothetical LOC283530 LOC387910 13 LOC387910 SGCG 13q12 sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) SACS 13q12 spastic ataxia of Charlevoix-Saguenay (sacsin) TNFRSF19 13q12.11-q12.3 tumor necrosis factor receptor superfamily, member 19 MIPEP 13q12 mitochondrial intermediate peptidase LOC387911 13 similar to hypothetical protein MGC48915 LOC390384 13 similar to hypothetical protein DKFZp434A171 SPATA13 13q12.13 spermatogenesis associated 13 MGC48915 13q12.13 hypothetical protein MGC48915 LOC390385 13 similar to hypothetical protein, MGC:7199 HCP33 13q12.13 cytochrome c, somatic pseudogene ADPRTL1 13q11 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 LOC387912 13 similar to TPTE and PTEN homologous inositol lipid phosphatase ATP12A 13q12.1-q12.3 ATPase, H+/K+ transporting, nongastric, alpha polypeptide LOC390386 13 similar to hypothetical protein DKFZp434A171 RNF17 13q12 ring finger protein 17 TDRD4 13q12.12 tudor domain containing 4 CENPJ 13q12.13 centromere protein J LOC387913 13 similar to TPTE and PTEN homologous inositol lipid phosphatase LOC390387 13 similar to Striatin PABPC3 13q11-q12 poly(A) binding protein, cytoplasmic 3 FLJ25477 13q12.13 hypothetical protein FLJ25477 MTMR6 13q12 myotubularin related protein 6 NUPL1 13q12.12 nucleoporin like 1 LOC246717 13q12 transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B) pseudogene ATP8A2 13q12-13 ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2 LOC387914 13 similar to WGAR9166 RNF6 13q12 ring finger protein (C3H2C3 type) 6 CDK8 13q12 cyclin-dependent kinase 8 WASF3 13q12 WAS protein family, member 3 LOC390389 13 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 GPR12 13q12 G protein-coupled receptor 12 USP12 5q33-q34 ubiquitin specific protease 12 RPL21 13pter-p13 ribosomal protein L21 LOC254109 13q12.2 similar to MGC53580 protein GTF3A 13q12.3-q13.1 general transcription factor IIIA MTIF3 13q12.2 mitochondrial translational initiation factor 3 PDZRN1 13q12.2 PDZ domain containing ring finger 1 MGC9850 13q12.2 hypothetical protein MGC9850 POLR1D 13q12.2 polymerase (RNA) 1 polypeptide D, 16kDa GSH1 13q12.13 GS homeobox 1 IPF1 13q12.1 insulin promoter factor 1, homeodomain transcription factor
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 5006 129 1148 - 2009 19778899
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonamygdala   Homo sapiens
     spinal cord     Homo sapiens
    Reproductivemale systemtestis    Homo sapiens
    Visualeyeretina    Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    at STAGE
    physiological period pregnancy
    Text placenta
    interspecies ortholog to murine Atp8a2 (95%)
  • cation transport ATPase (P-type) family
  • type IV subfamily
  • P4-ATPase family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
  • ATP8A2 associated with TMEM30A localizes to the Golgi compartment
  • basic FUNCTION
  • transports phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another
  • transports the lipids phosphatidylserine (PS) and phosphatidylethanolamine (PE), but not phosphatidylcholine (PC), from the luminal to the cytoplasmic surface of photoreceptor outer segment discs
  • implicated in the generation and maintenance of phosphatidylserine asymmetry in photoreceptor disc membranes
  • co-expression of ATP8A2 with TMEM30A results in the formation of properly folded heteromeric complex that is transported from the ER and to the Golgi compartment
  • "flippase" mediating transport of aminophospholipids toward the cytoplasmic leaflet
  • ATP8A2, acting in synergy with TMEM30A, performs an important role in neurite outgrowth in neurons
  • possesses phosphatidylserine translocase activity and is involved in localization of phosphatidylserine to the inner leaflet of the plasma membrane
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS active transport
    text small molecule transport, negative control of cell proliferation
    a component
  • functional ATP8A2-TMEM30A complex (N-linked glycosylation of TMEM30A plays an important role in the formation of a stable ATP8A2-CDC50A protein complex)
    small molecule
  • TMEM30A interacting with ATP8A1 and ATP8A2 (are translocated from the ER to the Golgi complex and plasma membrane upon coexpression of TMEM30A
  • interaction with TMEM30A (is the beta-subunit of ATP8A2 and is crucial for the correct folding, stable expression, export from endoplasmic reticulum, and phosphatidylserine flippase activity of ATP8A2)
  • cell & other
    corresponding disease(s) CAMRQ4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    converts cells to tumorigenic phenotype
    constitutional   translocation    
    disruption in a balanced t(10;13) and a severe neurological phenotype
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • Wabbler-lethal (wl) mutant mice develop progressive ataxia with pronounced neurodegeneration in the central and peripheral nervous system