ABHD12

GENE INFORMATION

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Gene name

ABHD12 (HGNC Symbol)

Synonyms

ABHD12A, BEM46L2, C20orf22, dJ965G21.2, DKFZP434P106

Description

Abhydrolase domain containing 12 (HGNC Symbol)

Entrez gene 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]

Chromosome

20

Cytoband

p11.21

Chromosome location (bp)

25294743 - 25390983

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100997 (version 78.38)

Entrez gene

26090

UniProt

Q8N2K0 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N2K0

Antibodypedia

ABHD12 antibodies
 

PROTEIN VIEW

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ABHD12-001
 
ABHD12-002
 
ABHD12-005
 
ABHD12-006
 
ABHD12-008
 
ABHD12-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABHD12-001 ENSP00000341408
ENST00000339157
Q8N2K0
Show all »
Show » Show » 398 45.1 No 1
ABHD12-002 ENSP00000365725
ENST00000376542
Q8N2K0
Show all »
Show » Show » 404 45.6 No 1
ABHD12-005 ENSP00000413311
ENST00000450393
Q5T712
Show all »
Show » Show » 187 21.2 No 1
ABHD12-006 ENSP00000459495
ENST00000491682
I3L294
Show all »
Show » Show » 159 18 No 0
ABHD12-008 ENSP00000460950
ENST00000471287
I3L440
Show all »
Show » 105 11.8 No 0
ABHD12-010 ENSP00000459121
ENST00000576316
I3L1V0
Show all »
Show » Show » 194 21 No 0