ABHD2 - abhydrolase domain containing 2, acylglycerol lipase Gene

Homo sapiens

Also known as HS1-2; LABH2; PHPS1-2

Gene ID: 11057 | Gene type: protein coding

About ABHD2

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,088,456-89,202,355 (from NCBI)

This gene has 10 transcripts (splice variants), 271 orthologues and 3 paralogues. Ubiquitous expression in liver (RPKM 19.2), stomach (RPKM 14.4) and 25 other tissues.

Summary

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of Enzymes. The encoded protein is an acylglycerol Lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm Calcium Channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]

ABHD2 Products(2)

mRNA	Protein	Name
NM_007011.8	NP_008942.3	monoacylglycerol lipase ABHD2
NM_152924.5	NP_690888.1	monoacylglycerol lipase ABHD2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acetylesterase activity	IDA IDA: Inferred from direct assay	27247428	GOA
enables diacylglycerol lipase activity	IDA IDA: Inferred from direct assay	27247428	GOA
enables hormone binding	IDA IDA: Inferred from direct assay	26989199	GOA
enables monoacylglycerol lipase activity	IDA IDA: Inferred from direct assay	26989199	GOA
enables nuclear steroid receptor activity	IDA IDA: Inferred from direct assay	26989199	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in acylglycerol catabolic process	IDA IDA: Inferred from direct assay	26989199	GOA
involved in response to progesterone	IDA IDA: Inferred from direct assay	26989199	GOA
involved in sperm capacitation	IDA IDA: Inferred from direct assay	26989199	GOA
involved in steroid hormone receptor signaling pathway	IDA IDA: Inferred from direct assay	26989199	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in sperm flagellum	IDA IDA: Inferred from direct assay	26989199	GOA
located in sperm plasma membrane	IDA IDA: Inferred from direct assay	26989199	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABHD2 Protein Structure

Abhydrolase_1

0
100
200
300
400
425 a.a.

Protein Preferred Names

Protein Names

monoacylglycerol lipase ABHD2

2-arachidonoylglycerol hydrolase

Related Diseases

Diseases

Alias

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome	PHARC
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Peripheral Neuropathy, Fiskerstrand Type	Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00093	ABHD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABHD2	VGNC	VGNC:69463
Bos taurus	ABHD2	VGNC	VGNC:25500
Canis familiaris	ABHD2	VGNC	VGNC:37468
Felis catus	ABHD2	VGNC	VGNC:59484
Rattus norvegicus	ABHD2	RGD	RGD:1311389
Mus musculus	ABHD2	MGD	MGI:1914344

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