Seroatlas · Human Serome Atlas

AP2M1

AP-2 complex subunit mu

Also known as: AP2M1_HUMAN, AP50, CLAPM1, mu2

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

Protein identityUniProt · HPA

UniProt accession
Q96CW1
Gene
AP2M1
Ensembl
ENSG00000161203
Chromosome
3
Canonical length
435 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>Q96CW1|AP2M1
     1  MIGGLFIYNH KGEVLISRVY RDDIGRNAVD AFRVNVIHAR QQVRSPVTNI ARTSFFHVKR
    61  SNIWLAAVTK QNVNAAMVFE FLYKMCDVMA AYFGKISEEN IKNNFVLIYE LLDEILDFGY
   121  PQNSETGALK TFITQQGIKS QHQTKEEQSQ ITSQVTGQIG WRREGIKYRR NELFLDVLES
   181  VNLLMSPQGQ VLSAHVSGRV VMKSYLSGMP ECKFGMNDKI VIEKQGKGTA DETSKSGKQS
   241  IAIDDCTFHQ CVRLSKFDSE RSISFIPPDG EFELMRYRTT KDIILPFRVI PLVREVGRTK
   301  LEVKVVIKSN FKPSLLAQKI EVRIPTPLNT SGVQVICMKG KAKYKASENA IVWKIKRMAG
   361  MKESQISAEI ELLPTNDKKK WARPPISMNF EVPFAPSGLK VRYLKVFEPK LNYSDHDVIK
   421  WVRYIGRSGI YETRC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP2M1 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
362 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 362 nTPM
  • heart muscle: 318 nTPM
  • adrenal gland: 307 nTPM
  • hypothalamus: 249 nTPM
  • basal ganglia: 241 nTPM
  • hippocampal formation: 226 nTPM

Single-cell type

  • hofbauer cells: 948 nCPM
  • syncytiotrophoblasts: 600 nCPM
  • late spermatids: 540 nCPM
  • platelets: 521 nCPM
  • decidual stromal cells: 498 nCPM
  • cytotrophoblasts: 463 nCPM

Immune cell

  • total PBMC: 436 nTPM
  • classical monocyte: 291 nTPM
  • myeloid DC: 266 nTPM
  • eosinophil: 238 nTPM
  • intermediate monocyte: 233 nTPM
  • non-classical monocyte: 204 nTPM

Brain region

  • cerebral cortex: 309 nTPM
  • hypothalamus: 294 nTPM
  • basal ganglia: 288 nTPM
  • thalamus: 263 nTPM
  • pons: 263 nTPM
  • hippocampal formation: 244 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AP2M1.

Disease | AllUniProt

Conditions AP2M1 is implicated in, by any mechanism.

  • Intellectual developmental disorder, autosomal dominant 60, with seizures (MRD60) MIM:618587

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 320 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.19
gnomAD pLI
1
gnomAD missense Z
4.88
DepMap mean gene effect
-0.67
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% 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 AP2M1 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 AP2M1 as an antibody target. Whether an autoantibody or antibody against AP2M1 could matter depends on whether native AP2M1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AP2M1 is annotated at the cell surface, where native AP2M1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label AP2M1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/AP2M1. 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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