Human Gene ABHD12 (uc002wuq.3) Description and Page Index
  Description: Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.
RefSeq Summary (NM_015600): 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].
Transcript (Including UTRs)
   Position: hg19 chr20:25,275,379-25,371,618 Size: 96,240 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr20:25,275,609-25,371,339 Size: 95,731 Coding Exon Count: 13 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr20:25,275,379-25,371,618)mRNA (may differ from genome)Protein (404 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
PubMedReactomeStanford SOURCETreefamUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ABHD12
CDC HuGE Published Literature: ABHD12
Positive Disease Associations: Alkaline Phosphatase
Related Studies:
  1. Alkaline Phosphatase
    John C Chambers et al. Nature genetics 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma., Nature genetics. [PubMed 22001757]

-  MalaCards Disease Associations
  MalaCards Gene Search: ABHD12
Diseases sorted by gene-association score: polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract* (1393), fundus dystrophy* (92), polyneuropathy (38), sjogren-larsson syndrome (12), sengers syndrome (8), usher syndrome (8), cataract (6), ataxia (5), retinitis pigmentosa (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.97 RPKM in Thyroid
Total median expression: 1063.19 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -164.70279-0.590 Picture PostScript Text
3' UTR -58.00230-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00561 - alpha/beta hydrolase fold
PF12146 - Serine aminopeptidase, S33
PF12697 - Alpha/beta hydrolase family

SCOP Domains:
53474 - alpha/beta-Hydrolases

ModBase Predicted Comparative 3D Structure on Q8N2K0-2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Descriptions from all associated GenBank mRNAs
  BC014049 - Homo sapiens abhydrolase domain containing 12, mRNA (cDNA clone MGC:20555 IMAGE:3641064), complete cds.
HQ448169 - Synthetic construct Homo sapiens clone IMAGE:100071560; CCSB007008_04 abhydrolase domain containing 12 (ABHD12) gene, encodes complete protein.
KJ898593 - Synthetic construct Homo sapiens clone ccsbBroadEn_07987 ABHD12 gene, encodes complete protein.
AL117442 - Homo sapiens mRNA; cDNA DKFZp434P106 (from clone DKFZp434P106).
AK075023 - Homo sapiens cDNA FLJ90542 fis, clone OVARC1000307.
AK293495 - Homo sapiens cDNA FLJ55147 complete cds, highly similar to Abhydrolase domain-containing protein 12.
AK290815 - Homo sapiens cDNA FLJ78559 complete cds.
CU680756 - Synthetic construct Homo sapiens gateway clone IMAGE:100023303 5' read ABHD12 mRNA.
JD336190 - Sequence 317214 from Patent EP1572962.
JD074803 - Sequence 55827 from Patent EP1572962.
JD036204 - Sequence 17228 from Patent EP1572962.
JD021177 - Sequence 2201 from Patent EP1572962.
JD190390 - Sequence 171414 from Patent EP1572962.
JD409337 - Sequence 390361 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
LIPAS-PWY - triacylglycerol degradation

Reactome (by CSHL, EBI, and GO)

Protein Q8N2K0 (Reactome details) participates in the following event(s):

R-HSA-5694462 ABHD6,12 hydrolyse 3AG
R-HSA-426048 Arachidonate production from DAG
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-416476 G alpha (q) signalling events
R-HSA-109582 Hemostasis
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: C20orf22, NM_015600, NP_056415, Q8N2K0-2
UCSC ID: uc002wuq.3
RefSeq Accession: NM_015600
Protein: Q8N2K0-2, splice isoform of Q8N2K0 CCDS: CCDS42857.1, CCDS13172.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_015600.4
exon count: 13CDS single in 3' UTR: no RNA size: 1751
ORF size: 1215CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2450.00frame shift in genome: no % Coverage: 98.46
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.