Seroatlas · Human Serome Atlas

ATP13A2

Polyamine-transporting ATPase 13A2

Also known as: AT132_HUMAN, CLN12, HSA9947, PARK9

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NQ11
Gene: ATP13A2
Ensembl: ENSG00000159363
Chromosome: 1
Canonical length: 1180 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

1180 residues, UniProt reviewed canonical sequence.

>Q9NQ11|ATP13A2
     1  MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI
    61  PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS
   121  PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ
   181  AFYQVSLLDH GRSCDDVHRS RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY
   241  YGFQAFSIAL WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP
   301  GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI PVLKTALPEG
   361  LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF CTAKGGLVSS ILHPRPINFK
   421  FYKHSMKFVA ALSVLALLGT IYSIFILYRN RVPLNEIVIR ALDLVTVVVP PALPAAMTVC
   481  TLYAQSRLRR QGIFCIHPLR INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV
   541  PEPRRLPVGP LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL
   601  AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE AYVKGSPELV
   661  AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS LEAAQQLTRD TVEGDLSLLG
   721  LLVMRNLLKP QTTPVIQALR RTRIRAVMVT GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH
   781  PERGQPASLE FLPMESPTAV NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL
   841  LPKVLVQGTV FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA
   901  SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI LYTINTNLGD
   961  LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP VLSSLLLQMV LVTGVQLGGY
  1021  FLTLAQPWFV PLNRTVAAPD NLPNYENTVV FSLSSFQYLI LAAAVSKGAP FRRPLYTNVP
  1081  FLVALALLSS VLVGLVLVPG LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ
  1141  CLPACLRRLR PKRASKKRFK QLERELAEQP WPPLPAGPLR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP13A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 98 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 98 nTPM
hypothalamus: 76 nTPM
cerebellum: 60 nTPM
basal ganglia: 58 nTPM
midbrain: 56 nTPM
hippocampal formation: 53 nTPM

Single-cell type

retinal ganglion cells: 97 nCPM
pdcs: 90 nCPM
other brain neurons: 83 nCPM
brain inhibitory neurons: 65 nCPM
somatotrophs: 63 nCPM
brain excitatory neurons: 60 nCPM

Immune cell

plasmacytoid DC: 21 nTPM
intermediate monocyte: 3.7 nTPM
non-classical monocyte: 3.6 nTPM
naive B-cell: 3.1 nTPM
MAIT T-cell: 2.9 nTPM
NK-cell: 2.8 nTPM

Brain region

pons: 297 nTPM
medulla oblongata: 227 nTPM
cerebral cortex: 225 nTPM
hypothalamus: 199 nTPM
thalamus: 194 nTPM
midbrain: 191 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP13A2.

Disease | AllUniProt

Conditions ATP13A2 is implicated in, by any mechanism.

Kufor-Rakeb syndrome (KRS) MIM:606693
Spastic paraplegia 78, autosomal recessive (SPG78) MIM:617225

Disease | GeneticClinVar

94 pathogenic / likely-pathogenic of 1,259 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Neurodegeneration with brain iron accumulation
Inborn genetic diseases
ATP13A2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.58
gnomAD pLI: 0
gnomAD missense Z: 1.4
DepMap mean gene effect: 0.08
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATP13A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATP13A2 as an antibody target. Whether an autoantibody or antibody against ATP13A2 could matter depends on whether native ATP13A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP13A2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATP13A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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