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

ABHD2 - abhydrolase domain containing 2, acylglycerol lipase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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
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 acetylesterase activity IDA
IDA: 通过直接分析推断
27247428 GOA
enables diacylglycerol lipase activity IDA
IDA: 通过直接分析推断
27247428 GOA
enables hormone binding IDA
IDA: 通过直接分析推断
26989199 GOA
enables monoacylglycerol lipase activity IDA
IDA: 通过直接分析推断
26989199 GOA
enables nuclear steroid receptor activity IDA
IDA: 通过直接分析推断
26989199 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
26989199 GOA
involved in response to progesterone IDA
IDA: 通过直接分析推断
26989199 GOA
involved in sperm capacitation IDA
IDA: 通过直接分析推断
26989199 GOA
involved in steroid hormone receptor signaling pathway IDA
IDA: 通过直接分析推断
26989199 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in sperm flagellum IDA
IDA: 通过直接分析推断
26989199 GOA
located in sperm plasma membrane IDA
IDA: 通过直接分析推断
26989199 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

ABHD2 蛋白结构

Abhydrolase_1

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00093 ABHD2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

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
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