Seroatlas · Human Serome Atlas

ATP6AP2

Renin receptor

Also known as: APT6M8-9, ATP6IP2, ATP6M8-9, M8-9, PRR, RENR, RENR_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O75787
Gene
ATP6AP2
Ensembl
ENSG00000182220
Chromosome
X
Canonical length
350 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>O75787|ATP6AP2
     1  MAVFVVLLAL VAGVLGNEFS ILKSPGSVVF RNGNWPIPGE RIPDVAALSM GFSVKEDLSW
    61  PGLAVGNLFH RPRATVMVMV KGVNKLALPP GSVISYPLEN AVPFSLDSVA NSIHSLFSEE
   121  TPVVLQLAPS EERVYMVGKA NSVFEDLSVT LRQLRNRLFQ ENSVLSSLPL NSLSRNNEVD
   181  LLFLSELQVL HDISSLLSRH KHLAKDHSPD LYSLELAGLD EIGKRYGEDS EQFRDASKIL
   241  VDALQKFADD MYSLYGGNAV VELVTVKSFD TSLIRKTRTI LEAKQAKNPA SPYNLAYKYN
   301  FEYSVVFNMV LWIMIALALA VIITSYNIWN MDPGYDSIIY RMTNQKIRMD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP6AP2 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
1
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
719 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 719 nTPM
  • thyroid gland: 166 nTPM
  • kidney: 155 nTPM
  • bone marrow: 117 nTPM
  • smooth muscle: 117 nTPM
  • cerebral cortex: 109 nTPM

Single-cell type

  • hofbauer cells: 1,185 nCPM
  • epididymal clear cells: 455 nCPM
  • kupffer cells: 417 nCPM
  • decidual stromal cells: 327 nCPM
  • respiratory ionocytes: 305 nCPM
  • esophageal apical cells: 305 nCPM

Immune cell

  • total PBMC: 694 nTPM
  • classical monocyte: 513 nTPM
  • eosinophil: 406 nTPM
  • non-classical monocyte: 381 nTPM
  • intermediate monocyte: 366 nTPM
  • myeloid DC: 342 nTPM

Brain region

  • white matter: 140 nTPM
  • cerebral cortex: 124 nTPM
  • hypothalamus: 122 nTPM
  • thalamus: 115 nTPM
  • basal ganglia: 110 nTPM
  • spinal cord: 109 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP6AP2.

Disease | AllUniProt

Conditions ATP6AP2 is implicated in, by any mechanism.

  • Intellectual developmental disorder, X-linked, syndromic, Hedera type (MRXSH) MIM:300423
  • Parkinsonism with spasticity, X-linked (XPDS) MIM:300911
  • Congenital disorder of glycosylation 2R (CDG2R) MIM:301045

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 356 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Syndromic X-linked intellectual disability Hedera type
  • X-linked parkinsonism-spasticity syndrome
  • Congenital disorder of glycosylation, type IIr

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)
0.43
gnomAD pLI
0.87
gnomAD missense Z
1.66
DepMap mean gene effect
-0.72
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

  • Renin receptor-like
  • Renin receptor-like, C-terminal transmembrane spanning segment
  • Renin receptor, N-terminal domain
  • Renin receptor-like transmembrane spanning segment
  • Renin receptor N-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATP6AP2 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 ATP6AP2 as an antibody target. Whether an autoantibody or antibody against ATP6AP2 could matter depends on whether native ATP6AP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP6AP2 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 ATP6AP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ATP6AP2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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