ABHD12 - abhydrolase domain containing 12, lysophospholipase Gene

Also Known as PHARC; ABHD12A; BEM46L2; hABHD12; C20orf22; dJ965G21.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26090

About ABHD12

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:25,294,743-25,390,835 (from NCBI)

This gene has 24 transcripts (splice variants), 189 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 21.6), brain (RPKM 16.2) and 25 other tissues.

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]

ABHD12 Products (2)

mRNA	Protein	Name
NM_001042472.3	NP_001035937.1	lysophosphatidylserine lipase ABHD12 isoform a
NM_015600.5	NP_056415.1	lysophosphatidylserine lipase ABHD12 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables lysophospholipase activity	IDA IDA: Inferred from direct assay	25290914	GOA
enables monoacylglycerol lipase activity	IDA IDA: Inferred from direct assay	22969151	GOA
enables phospholipase activity	IDA IDA: Inferred from direct assay	30643283	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in acylglycerol catabolic process	IDA IDA: Inferred from direct assay	22969151	GOA
involved in glycerophospholipid catabolic process	IDA IDA: Inferred from direct assay	25290914	GOA
involved in monoacylglycerol catabolic process	IDA IDA: Inferred from direct assay	25290914	GOA
involved in phosphatidylserine catabolic process	IDA IDA: Inferred from direct assay	30643283	GOA
involved in phospholipid catabolic process	IDA IDA: Inferred from direct assay	30237167	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	30237167	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

ABHD12 Protein Structure

Abhydrolase_5

0
100
200
300
398 a.a.

Protein Preferred Names	Protein Names
lysophosphatidylserine lipase ABHD12	2-arachidonoylglycerol hydrolase ABHD12

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
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Polyneuropathy	Polyneuropathies
Retinitis
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
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
Spastic Paraplegia 28, Autosomal Recessive	SPG28 Hereditary Spastic Paraplegia 28 Autosomal Recessive Spastic Paraplegia Type 28 Autosomal Recessive Spastic Paraplegia 28 Paraplegia, Spastic, Type 28, Autosomal Recessive
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Asbestos-Related Lung Carcinoma
Lens Disease	Lens Diseases
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

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

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114157	DO-264	Inhibitor	99.96%	Unkown
HY-139174	(S)-DO271		/	Unkown
HY-152152	JZP-MA-13	Inhibitor	/	Unkown
HY-RS00086	ABHD12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00087	ABHD12B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21811	Abhd12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28327	Abhd12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ABHD12	MGD	MGI:1923442
Canis familiaris	ABHD12	VGNC	VGNC:37458
Rattus norvegicus	ABHD12	RGD	RGD:1562570
Bos taurus	ABHD12	VGNC	VGNC:25490
Macaca mulatta	ABHD12	VGNC	VGNC:69411
Felis catus	ABHD12	VGNC	VGNC:59476
Others	ABHD12	NCBI