Seroatlas · Human Serome Atlas

ABHD12

Lysophosphatidylserine lipase ABHD12

Also known as: ABD12_HUMAN, ABHD12A, BEM46L2, C20orf22, dJ965G21.2, DKFZP434P106

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

Protein identityUniProt · HPA

UniProt accession
Q8N2K0
Gene
ABHD12
Ensembl
ENSG00000100997
Chromosome
20
Canonical length
398 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

398 residues, UniProt reviewed canonical sequence.

>Q8N2K0|ABHD12
     1  MRKRTEPVAL EHERCAAAGS SSSGSAAAAL DADCRLKQNL RLTGPAAAEP RCAADAGMKR
    61  ALGRRKGVWL RLRKILFCVL GLYIAIPFLI KLCPGIQAKL IFLNFVRVPY FIDLKKPQDQ
   121  GLNHTCNYYL QPEEDVTIGV WHTVPAVWWK NAQGKDQMWY EDALASSHPI ILYLHGNAGT
   181  RGGDHRVELY KVLSSLGYHV VTFDYRGWGD SVGTPSERGM TYDALHVFDW IKARSGDNPV
   241  YIWGHSLGTG VATNLVRRLC ERETPPDALI LESPFTNIRE EAKSHPFSVI YRYFPGFDWF
   301  FLDPITSSGI KFANDENVKH ISCPLLILHA EDDPVVPFQL GRKLYSIAAP ARSFRDFKVQ
   361  FVPFHSDLGY RHKYIYKSPE LPRILREFLG KSEPEHQH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABHD12 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)
0.32
Highest tissue expression
125 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 125 nTPM
  • spinal cord: 114 nTPM
  • pancreas: 111 nTPM
  • hippocampal formation: 95 nTPM
  • cerebral cortex: 81 nTPM
  • thyroid gland: 76 nTPM

Single-cell type

  • esophageal apical cells: 496 nCPM
  • cardiomyocytes: 325 nCPM
  • syncytiotrophoblasts: 234 nCPM
  • epididymal principal cells: 217 nCPM
  • urothelial cells: 186 nCPM
  • hofbauer cells: 184 nCPM

Immune cell

  • classical monocyte: 19 nTPM
  • myeloid DC: 18 nTPM
  • non-classical monocyte: 18 nTPM
  • eosinophil: 17 nTPM
  • intermediate monocyte: 17 nTPM
  • plasmacytoid DC: 17 nTPM

Brain region

  • white matter: 179 nTPM
  • hippocampal formation: 146 nTPM
  • pons: 137 nTPM
  • thalamus: 134 nTPM
  • medulla oblongata: 133 nTPM
  • cerebellum: 131 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABHD12.

Disease | AllUniProt

Conditions ABHD12 is implicated in, by any mechanism.

  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) MIM:612674

Disease | GeneticClinVar

55 pathogenic / likely-pathogenic of 599 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)
0.76
gnomAD pLI
0
gnomAD missense Z
0.19
DepMap mean gene effect
0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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 ABHD12 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 ABHD12 as an antibody target. Whether an autoantibody or antibody against ABHD12 could matter depends on whether native ABHD12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABHD12 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 ABHD12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ABHD12. 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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