ABHD12 (abhydrolase domain containing 12, lysophospholipase)

2014-11-01  

Identity

HGNC
LOCATION
20p11.21
LOCUSID
ALIAS
ABHD12A,BEM46L2,C20orf22,PHARC,dJ965G21.2,hABHD12
FUSION GENES

Other Information

Locus ID:

NCBI: 26090
MIM: 613599
HGNC: 15868
Ensembl: ENSG00000100997

Variants:

dbSNP: 26090
ClinVar: 26090
TCGA: ENSG00000100997
COSMIC: ABHD12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100997ENST00000339157Q8N2K0
ENSG00000100997ENST00000376542Q8N2K0
ENSG00000100997ENST00000450393Q5T712
ENSG00000100997ENST00000461204I3L380
ENSG00000100997ENST00000465694I3L206
ENSG00000100997ENST00000471287I3L440
ENSG00000100997ENST00000491682I3L294
ENSG00000100997ENST00000576316I3L1V0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Effects of PIP2 hydrolysisREACTOMER-HSA-114508
Arachidonate production from DAGREACTOMER-HSA-426048
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207976872010Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.59
229691512012Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).41
229383822012Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.21
240270632013Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.11
278906732017Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.7
246979112014Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.6
302371672018Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids.5
257431802015Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.3
284486922017A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.2
234901172013Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.1

Citation

Dessen P

ABHD12 (abhydrolase domain containing 12, lysophospholipase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60049/abhd12