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; chr20:25275379-25371618 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ABHD12

Alleles and phenotypes

All alleles(14) : Targeted(3) Gene trapped(11)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (7 annotations)

Process	biological_process
Component	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex, integral to membrane, ...
Function	acylglycerol lipase activity, hydrolase activity

External Resources: FuncBase

Expression

Literature Summary: (1 records)
cDNA source data(82)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(82) cDNA(82)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000015774 (Evidence)
Ensembl Gene Model	ENSMUSG00000032046 (Evidence)
Entrez Gene	76192 (Evidence)
UniGene	112632
DFCI	TC1577755, TC1601340, TC1628716, TC1702735
DoTS	DT.101376126, DT.101376128, DT.110730820, DT.531493
NIA Mouse Gene Index	U023484
EC	3.1.1.23
Consensus CDS Project	CCDS50742.1
International Mouse Knockout Project Status	Abhd12

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015774	VEGA Gene Model | MGI Sequence Detail	72249	C57BL/6J
transcript	OTTMUST00000037482	VEGA | MGI Sequence Detail	1999	Not Applicable
polypeptide	OTTMUSP00000016799	VEGA | MGI Sequence Detail	398	Not Applicable

All sequences(70) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(124 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(37)

Other accession IDs

MGI:1916235, MGI:2138943, MGI:2139377