1. Gene
  2. ABHD2 - abhydrolase domain containing 2, acylglycerol lipase Gene

ABHD2 - abhydrolase domain containing 2, acylglycerol lipase Gene

中文名称:含脱氢酶结构域 2, 酰基甘油脂肪酶

种属: Homo sapiens

同用名: HS1-2; LABH2; PHPS1-2

基因 ID: 11057 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质含有 alpha/beta 水解酶折叠,这是在多种酶中发现的催化结构域。编码的蛋白质是一种酰基甘油脂肪酶,可催化内源性大麻素花生四烯酰甘油从细胞膜中水解。这导致精子钙通道 CatSper 的激活,从而导致精子激活。该基因的可变剪接导致编码相同蛋白质的两个转录变体。[RefSeq 提供,2017 年 1 月]

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 基因产物(2)

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

ABHD2 蛋白结构

Abhydrolase_1

Abhydrolase_1: alpha/beta hydrolase fold (166 - 388)

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  • 425 a.a.
蛋白主名 其他名称

monoacylglycerol lipase ABHD2

2-arachidonoylglycerol hydrolase

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

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

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

直系同源

种属 基因名 来源 基因 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