full name
abhydrolase domain containing 12

synonyms
ABHD12A, BEM46L2, C20orf22, dJ965G21.2, PHARC, ABHD12, ENSG00000100997

HGNC
HGNC:15868

Entrez Gene
Gene:26090

ENSEMBL
ENSG00000100997

location
chr: 20
start: 25275379
stop: 25371618
strand: -

OMIM
OMIM:613599: ABHD12 (Autosomal recessive inheritance)
OMIM:612674: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

transcripts
NM_015600.4
NM_001042472.2

pathways
Arachidonate production from DAG [NCBI:1269364] [REACTOME:R-HSA-426048] [PUBMED:6788766] [PUBMED:7295321]
Effects of PIP2 hydrolysis [NCBI:1269363] [REACTOME:R-HSA-114508] [PUBMED:17157506] [PUBMED:9601053]
G alpha (q) signalling events [NCBI:1269578] [REACTOME:R-HSA-416476] [PUBMED:19212139]
GPCR downstream signaling [NCBI:1269574] [REACTOME:R-HSA-388396] [PUBMED:12040175]
Gastrin-CREB signalling pathway via PKC and MAPK [NCBI:1269592] [REACTOME:R-HSA-881907] [PUBMED:10413847] [PUBMED:7491953] [PUBMED:17698287]
Hemostasis [NCBI:1269340] [REACTOME:R-HSA-109582]
Platelet activation, signaling and aggregation [NCBI:1269350] [REACTOME:R-HSA-76002] [PUBMED:16543958] [PUBMED:8704248] [PUBMED:2018971] [PUBMED:1672265] [PUBMED:17059469] [PUBMED:12681240] [PUBMED:12411949] [PUBMED:11511514]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by GPCR [NCBI:1269543] [REACTOME:R-HSA-372790] [PUBMED:16902930] [PUBMED:10202136] [PUBMED:18043707]
triacylglycerol degradation [NCBI:142418] [BIOCYC:HUMAN_LIPAS-PWY]