ABHD12 - abhydrolase domain containing 12, lysophospholipase Gene

中文名称：含脱氢酶结构域 12，溶血磷脂酶

种属: Homo sapiens

同用名: PHARC; ABHD12A; BEM46L2; hABHD12; C20orf22; dJ965G21.2

基因 ID: 26090 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的酶可催化 2-花生四烯酸甘油 (2-AG) 的水解，2-AG 是作用于大麻素受体 CB1 和 CB2 的主要内源性大麻素脂质递质。内源性大麻素系统参与范围广泛的生理过程，包括神经传递、情绪、食欲、疼痛感知、成瘾行为和炎症。该基因的突变与神经退行性疾病 PHARC (多发性神经病、听力损失、共济失调、色素性视网膜炎和白内障) 有关，是由内源性大麻素代谢的先天性错误引起的。已注意到该基因编码不同亚型的选择性剪接转录变体。[RefSeq 提供，2011 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables lysophospholipase activity	IDA IDA: 通过直接分析推断	25290914	GOA
enables monoacylglycerol lipase activity	IDA IDA: 通过直接分析推断	22969151	GOA
enables phospholipase activity	IDA IDA: 通过直接分析推断	30643283	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in acylglycerol catabolic process	IDA IDA: 通过直接分析推断	22969151	GOA
involved in glycerophospholipid catabolic process	IDA IDA: 通过直接分析推断	25290914	GOA
involved in monoacylglycerol catabolic process	IDA IDA: 通过直接分析推断	25290914	GOA
involved in phosphatidylserine catabolic process	IDA IDA: 通过直接分析推断	30643283	GOA
involved in phospholipid catabolic process	IDA IDA: 通过直接分析推断	30237167	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	30237167	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ABHD12 蛋白结构

Abhydrolase_5

0
100
200
300
398 a.a.

蛋白主名

其他名称

lysophosphatidylserine lipase ABHD12

2-arachidonoylglycerol hydrolase ABHD12

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-114157	DO-264	Inhibitor	99.96%	否
HY-152152	JZP-MA-13	Inhibitor	/	否
HY-RS00086	ABHD12 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS00087	ABHD12B Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21811	Abhd12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS28327	Abhd12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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