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ABHD12 abhydrolase domain containing 12 [ Homo sapiens (human) ]

Gene ID: 26090, updated on 7-Oct-2018

Summary

Official Symbol
ABHD12provided by HGNC
Official Full Name
abhydrolase domain containing 12provided by HGNC
Primary source
HGNC:HGNC:15868
See related
Ensembl:ENSG00000100997 MIM:613599; Vega:OTTHUMG00000032121
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHARC; ABHD12A; BEM46L2; C20orf22; dJ965G21.2
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 21.6), brain (RPKM 16.2) and 25 other tissues See more
Orthologs

Genomic context

See ABHD12 in Genome Data Viewer
Location:
20p11.21
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (25294743..25390982, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25275379..25371618, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926889 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 6 (putative) Neighboring gene uncharacterized LOC105372579 Neighboring gene glycogen phosphorylase B Neighboring gene uncharacterized LOC105372581 Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene GINS complex subunit 1 Neighboring gene ninein like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
MedGen: C2675204 OMIM: 612674 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog

Pathways from BioSystems

  • Arachidonate production from DAG, organism-specific biosystem (from REACTOME)
    Arachidonate production from DAG, organism-specific biosystemDiacylglycerol (DAG) is an important source of arachidonic acid, a signalling molecule and the precursor of the prostaglandins. In human platelet almost all the DAG produced from phosphatidylinositol...
  • Effects of PIP2 hydrolysis, organism-specific biosystem (from REACTOME)
    Effects of PIP2 hydrolysis, organism-specific biosystemHydrolysis of phosphatidyl inositol-bisphosphate (PIP2) by phospholipase C (PLC) produces diacylglycerol (DAG) and inositol triphosphate (IP3). Both are potent second messengers. IP3 diffuses into th...
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • triacylglycerol degradation, organism-specific biosystem (from BIOCYC)
    triacylglycerol degradation, organism-specific biosystem
    triacylglycerol degradation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434P106

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acylglycerol lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
acylglycerol lipase activity TAS
Traceable Author Statement
more info
 
lysophospholipase activity IDA
Inferred from Direct Assay
more info
PubMed 
palmitoyl-(protein) hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acylglycerol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
glycerophospholipid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
monoacylglycerol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylserine catabolic process IEA
Inferred from Electronic Annotation
more info
 
protein depalmitoylation IEA
Inferred from Electronic Annotation
more info
 
response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
monoacylglycerol lipase ABHD12
Names
2-arachidonoylglycerol hydrolase
abhydrolase domain-containing protein 12
NP_001035937.1
NP_056415.1
XP_011527516.1
XP_016883285.1
XP_016883286.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028119.1 RefSeqGene

    Range
    5001..101240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042472.2NP_001035937.1  monoacylglycerol lipase ABHD12 isoform a

    See identical proteins and their annotated locations for NP_001035937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the shorter isoform (a).
    Source sequence(s)
    AK075023, BQ574269, BQ672998, BQ961739
    Consensus CDS
    CCDS42857.1
    UniProtKB/Swiss-Prot
    Q8N2K0
    Related
    ENSP00000341408.5, OTTHUMP00000030492, ENST00000339157.9, OTTHUMT00000078423
    Conserved Domains (1) summary
    cl26327
    Location:165351
    Abhydrolase_1; alpha/beta hydrolase fold
  2. NM_015600.4NP_056415.1  monoacylglycerol lipase ABHD12 isoform b

    See identical proteins and their annotated locations for NP_056415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' terminal exon compared to variant 1, resulting in a longer isoform (b) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK293495, BC014049, BQ961739
    Consensus CDS
    CCDS13172.1
    UniProtKB/Swiss-Prot
    Q8N2K0
    Related
    ENSP00000365725.3, OTTHUMP00000030493, ENST00000376542.7, OTTHUMT00000078424
    Conserved Domains (1) summary
    cl26327
    Location:165351
    Abhydrolase_1; alpha/beta hydrolase fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    25294743..25390982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529214.2XP_011527516.1  monoacylglycerol lipase ABHD12 isoform X1

    Conserved Domains (2) summary
    pfam12146
    Location:165351
    Hydrolase_4; Serine aminopeptidase, S33
    pfam12695
    Location:171355
    Abhydrolase_5; Alpha/beta hydrolase family
  2. XM_017027796.1XP_016883285.1  monoacylglycerol lipase ABHD12 isoform X2

  3. XM_017027797.2XP_016883286.1  monoacylglycerol lipase ABHD12 isoform X3

RNA

  1. XR_002958465.1 RNA Sequence

  2. XR_002958466.1 RNA Sequence

  3. XR_002958467.1 RNA Sequence

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