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Abhd12
Gene Detail
 Symbol
Name
ID
Abhd12
abhydrolase domain containing 12
MGI:1923442
Synonyms 1500011G07Rik, 6330583M11Rik
Feature Type protein coding gene
Genetic Map
Chromosome 2
74.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:150832493-150904741 bp, - strand
From VEGA annotation of GRCm38

  72249 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22910  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Abhd12

Human
homologs
Human Homolog ABHD12, abhydrolase domain containing 12
NCBI Gene ID 26090
neXtProt AC  NX_Q8N2K0
Human Synonyms  ABHD12A, BEM46L2, C20orf22, dJ965G21.2, PHARC
Human Chr (Location)  20p11.21; chr20:25294743-25390982 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ABHD12
Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(11) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity.
 
Human Diseases Modeled Using Mouse Abhd12 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Abhd12 interacts with 150 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process adult walking behavior, phosphatidylserine catabolic process, ...
Component alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex, integral component of membrane, ...
Function acylglycerol lipase activity, hydrolase activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(80)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(80) cDNA(80)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000015774 (Evidence)
Ensembl Gene ModelENSMUSG00000032046 (Evidence)
Entrez Gene76192 (Evidence)
UniGene112632
DFCITC1577755, TC1601340, TC1628716, TC1702735
DoTSDT.101376126, DT.101376128, DT.110730820, DT.531493
NIA Mouse Gene IndexU023484
EC3.1.1.23
Consensus CDS ProjectCCDS50742.1
International Mouse Knockout Project StatusAbhd12
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015774 VEGA Gene Model | MGI Sequence Detail 72249 C57BL/6J ±  kb
transcript OTTMUST00000037482 VEGA | MGI Sequence Detail 1999 Not Applicable 
polypeptide OTTMUSP00000016799 VEGA | MGI Sequence Detail 398 Not Applicable 

For the selected sequences
All sequences(76) RefSeq(8) UniProt(4)
Polymorphisms SNPs within 2kb(541 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026605 Monoacylglycerol lipase protein ABHD12
Protein Ontology PR:000032418 monoacylglycerol lipase ABHD12
References (Earliest) J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
(Latest) J:193716 Blankman JL, et al., ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1500-5
All references(34)
Disease annotation references (1)
Other
accession IDs
MGI:1916235, MGI:2138943, MGI:2139377

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory