Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57406
Gene name	Abhydrolase domain containing 6, acylglycerol lipase
Gene symbol	ABHD6
Synonyms (NCBI Gene)	-
Chromosome	3
Chromosome location	3p14.3

Show/Hide all (65)

miRTarBase ID	miRNA	Experiments
MIRT760208	hsa-miR-137	CLIP-seq
MIRT760209	hsa-miR-27a	CLIP-seq
MIRT760210	hsa-miR-27b	CLIP-seq
MIRT760211	hsa-miR-412	CLIP-seq
MIRT760212	hsa-miR-4773	CLIP-seq
MIRT760213	hsa-miR-513a-5p	CLIP-seq
MIRT2165510	hsa-miR-125a-5p	CLIP-seq
MIRT2165511	hsa-miR-125b	CLIP-seq
MIRT2165512	hsa-miR-4319	CLIP-seq
MIRT2165513	hsa-miR-4324	CLIP-seq
MIRT2165514	hsa-miR-4494	CLIP-seq
MIRT2165515	hsa-miR-4693-3p	CLIP-seq
MIRT2165516	hsa-miR-4732-3p	CLIP-seq
MIRT2165517	hsa-miR-499a-5p	CLIP-seq
MIRT2165518	hsa-miR-604	CLIP-seq
MIRT2165519	hsa-miR-647	CLIP-seq
MIRT2165520	hsa-miR-670	CLIP-seq
MIRT2467524	hsa-miR-1238	CLIP-seq
MIRT2467525	hsa-miR-1301	CLIP-seq
MIRT2467526	hsa-miR-1587	CLIP-seq
MIRT2467527	hsa-miR-193a-5p	CLIP-seq
MIRT2467528	hsa-miR-3124-3p	CLIP-seq
MIRT2467529	hsa-miR-3663-5p	CLIP-seq
MIRT2467530	hsa-miR-3684	CLIP-seq
MIRT2467531	hsa-miR-380	CLIP-seq
MIRT2467532	hsa-miR-4252	CLIP-seq
MIRT2467533	hsa-miR-4292	CLIP-seq
MIRT2467534	hsa-miR-4308	CLIP-seq
MIRT2467535	hsa-miR-431	CLIP-seq
MIRT2467536	hsa-miR-4492	CLIP-seq
MIRT2467537	hsa-miR-4495	CLIP-seq
MIRT2467538	hsa-miR-4498	CLIP-seq
MIRT2467539	hsa-miR-4656	CLIP-seq
MIRT2467540	hsa-miR-4675	CLIP-seq
MIRT2467541	hsa-miR-4691-5p	CLIP-seq
MIRT2467542	hsa-miR-4741	CLIP-seq
MIRT2467543	hsa-miR-4802-3p	CLIP-seq
MIRT2467544	hsa-miR-485-3p	CLIP-seq
MIRT2467545	hsa-miR-5047	CLIP-seq
MIRT2467546	hsa-miR-548a-3p	CLIP-seq
MIRT2467547	hsa-miR-548e	CLIP-seq
MIRT2467548	hsa-miR-548f	CLIP-seq
MIRT2467549	hsa-miR-762	CLIP-seq
MIRT2467524	hsa-miR-1238	CLIP-seq
MIRT2467525	hsa-miR-1301	CLIP-seq
MIRT2467526	hsa-miR-1587	CLIP-seq
MIRT2467527	hsa-miR-193a-5p	CLIP-seq
MIRT2467528	hsa-miR-3124-3p	CLIP-seq
MIRT2467529	hsa-miR-3663-5p	CLIP-seq
MIRT2467531	hsa-miR-380	CLIP-seq
MIRT2467532	hsa-miR-4252	CLIP-seq
MIRT2467533	hsa-miR-4292	CLIP-seq
MIRT2467534	hsa-miR-4308	CLIP-seq
MIRT2467535	hsa-miR-431	CLIP-seq
MIRT2467536	hsa-miR-4492	CLIP-seq
MIRT2467537	hsa-miR-4495	CLIP-seq
MIRT2467538	hsa-miR-4498	CLIP-seq
MIRT2467539	hsa-miR-4656	CLIP-seq
MIRT2467540	hsa-miR-4675	CLIP-seq
MIRT2467541	hsa-miR-4691-5p	CLIP-seq
MIRT2467542	hsa-miR-4741	CLIP-seq
MIRT2467543	hsa-miR-4802-3p	CLIP-seq
MIRT2467544	hsa-miR-485-3p	CLIP-seq
MIRT2467545	hsa-miR-5047	CLIP-seq
MIRT2467549	hsa-miR-762	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004620	Function	Phospholipase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009395	Process	Phospholipid catabolic process	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	TAS
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	ISS
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046464	Process	Acylglycerol catabolic process	IBA
GO:0046464	Process	Acylglycerol catabolic process	IDA	22969151
GO:0046464	Process	Acylglycerol catabolic process	IEA
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IEA
GO:0047372	Function	Monoacylglycerol lipase activity	IBA
GO:0047372	Function	Monoacylglycerol lipase activity	IDA	22969151
GO:0047372	Function	Monoacylglycerol lipase activity	IEA
GO:0047372	Function	Monoacylglycerol lipase activity	TAS
GO:0052651	Process	Monoacylglycerol catabolic process	IEA
GO:0052651	Process	Monoacylglycerol catabolic process	ISS
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099178	Process	Regulation of retrograde trans-synaptic signaling by endocanabinoid	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	26997277
GO:2000124	Process	Regulation of endocannabinoid signaling pathway	IEA
GO:2001311	Process	Lysobisphosphatidic acid metabolic process	IEA
GO:2001311	Process	Lysobisphosphatidic acid metabolic process	ISS

MIM	HGNC	e!Ensembl
616966	21398	ENSG00000163686

Q9BV23

Protein name

Monoacylglycerol lipase ABHD6 (EC 3.1.1.23) (2-arachidonoylglycerol hydrolase) (Abhydrolase domain-containing protein 6)

Protein function

Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also h

PDB

7OTS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00561	Abhydrolase_1	72 → 313	alpha/beta hydrolase fold	Domain

Sequence

MDLDVVNMFVIAGGTLAIPILAFVASFLLWPSALIRIYYWYWRRTLGMQVRYVHHEDYQF
CYSFRGRPGHKPSILMLHGFSAHKDMWLSVVKFLPKNLHLVCVDMPGHEGTTRSSLDDLS
IDGQVKRIHQFVECLKLNKKPFHLVGTSMGGQVAGVYAAYYPSDVSSLCLVCPAGLQYST
DNQFVQRLKELQGSAAVEKIPLIPSTPEEMSEMLQLCSYVRFKVPQQILQGLVDVRIPHN
NFYRKLFLEIVSEKSRYSLHQNMDKIKVPTQIIWGKQDQVLDVSGADMLAKSIANCQVEL
LENCGHSVVMERPRKTAKLIIDFLASVHNTDNNKKLD

Sequence length

337

Interactions

View interactions

	KEGG		Reactome
	Retrograde endocannabinoid signaling		Arachidonate production from DAG

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28880480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27460080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24095738, 26997277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30853109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	19793082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26491015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	24458077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30006903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24458077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24534757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18360779, 28880480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28880480, 30894461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24095738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30171986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19793082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30108813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24095738, 26997277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26491015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30950828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28134081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19793082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	19793082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABHD6 (abhydrolase domain containing 6, acylglycerol lipase)