Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 26090, updated on 5-Nov-2017
    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
    Location:
    20p11.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 LOC105372579 Neighboring gene uncharacterized LOC105372580 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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
    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    Preferred Names
    monoacylglycerol lipase ABHD12
    Names
    2-arachidonoylglycerol hydrolase
    abhydrolase domain-containing protein 12
    NP_001035937.1
    NP_056415.1
    XP_005260755.1
    XP_011527516.1
    XP_011527517.1
    XP_011527520.1
    XP_016883285.1
    XP_016883286.1
    XP_016883287.1

    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 (2) summary
      pfam12146
      Location:165351
      Hydrolase_4; Serine aminopeptidase, S33
      pfam12695
      Location:171355
      Abhydrolase_5; Alpha/beta hydrolase family
    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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 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 X2

      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 X4

    3. XM_005260698.1XP_005260755.1  monoacylglycerol lipase ABHD12 isoform X1

      Conserved Domains (1) summary
      pfam12695
      Location:171343
      Abhydrolase_5; Alpha/beta hydrolase family
    4. XM_011529215.1XP_011527517.1  monoacylglycerol lipase ABHD12 isoform X3

      See identical proteins and their annotated locations for XP_011527517.1

      Conserved Domains (1) summary
      pfam12695
      Location:14186
      Abhydrolase_5; Alpha/beta hydrolase family
    5. XM_011529218.1XP_011527520.1  monoacylglycerol lipase ABHD12 isoform X6

      See identical proteins and their annotated locations for XP_011527520.1

      Related
      ENSP00000459121.1, OTTHUMP00000257920, ENST00000576316.5, OTTHUMT00000439492
      Conserved Domains (1) summary
      pfam12695
      Location:4124
      Abhydrolase_5; Alpha/beta hydrolase family
    6. XM_017027798.1XP_016883287.1  monoacylglycerol lipase ABHD12 isoform X6

      Conserved Domains (1) summary
      pfam12695
      Location:4124
      Abhydrolase_5; Alpha/beta hydrolase family
    7. XM_017027797.1XP_016883286.1  monoacylglycerol lipase ABHD12 isoform X5

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      25276265..25371901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center