1. Gene
  2. MBOAT2 - membrane bound O-acyltransferase domain containing 2 Gene

MBOAT2 - membrane bound O-acyltransferase domain containing 2 Gene

中文名称:含膜结合 O-酰基转移酶结构域 2

种属: Homo sapiens

同用名: LPAAT; LPCAT; LPEAT; OACT2; LPCAT4; LPLAT 2; LPLAT13

基因 ID: 129642 | 基因类型: protein coding

关于 MBOAT2

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:8,852,690-9,003,684 (from NCBI)

This gene has 10 transcripts (splice variants), 278 orthologues and 5 paralogues. Broad expression in bone marrow (RPKM 14.5), brain (RPKM 13.4) and 23 other tissues.

功能概要

启用 1-酰基甘油磷酸胆碱 O-酰基转移酶活性; 1-酰基甘油磷酸乙醇胺 O-酰基转移酶活性;和 1-酰基甘油磷酸丝氨酸 O-酰基转移酶活性。参与磷脂酰胆碱酰基链重塑;磷脂酰乙醇胺酰基链重构;和磷脂酰丝氨酸酰基链重塑。预测位于内质网膜。预测在膜中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Enables 1-acylglycerophosphocholine O-acyltransferase activity; 1-acylglycerophosphoethanolamine O-acyltransferase activity; and 1-acylglycerophosphoserine O-acyltransferase activity. Involved in phosphatidylcholine acyl-chain remodeling; phosphatidylethanolamine acyl-chain remodeling; and phosphatidylserine acyl-chain remodeling. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022]

MBOAT2 基因产物(4)

mRNA Protein Name
NM_001321265.2 NP_001308194.1 lysophospholipid acyltransferase 2 isoform 2
NM_001321266.2 NP_001308195.1 lysophospholipid acyltransferase 2 isoform 3
NM_001321267.2 NP_001308196.1 lysophospholipid acyltransferase 2 isoform 2
NM_138799.4 NP_620154.2 lysophospholipid acyltransferase 2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 1-acylglycerophosphocholine O-acyltransferase activity IDA
IDA: 通过直接分析推断
18772128 GOA
enables 1-acylglycerophosphoethanolamine O-acyltransferase activity IDA
IDA: 通过直接分析推断
18772128 GOA
enables 1-acylglycerophosphoserine O-acyltransferase activity IMP
IMP: 通过突变表型推断
18772128 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylcholine acyl-chain remodeling IDA
IDA: 通过直接分析推断
18772128 GOA
involved in phosphatidylethanolamine acyl-chain remodeling IDA
IDA: 通过直接分析推断
18772128 GOA
involved in phosphatidylserine acyl-chain remodeling IDA
IDA: 通过直接分析推断
18772128 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

MBOAT2 蛋白结构

MBOAT

MBOAT: MBOAT, membrane-bound O-acyltransferase family (118 - 429)

  • 0
  • 100
  • 200
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  • 400
  • 520 a.a.
蛋白主名 其他名称

lysophospholipid acyltransferase 2

1-acylglycerophosphate O-acyltransferase

关联疾病

疾病名称 别名
Brachydactyly-Syndactyly Syndrome

BDSD

Brachydactyly-Syndactyly-Oligodactyly Syndrome

Brachydactyly-Syndactyly, Zhao Type

BDSDO

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

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
Rattus norvegicus MBOAT2 RGD RGD:1305798
Macaca mulatta MBOAT2 VGNC VGNC:74573
Canis familiaris MBOAT2 VGNC VGNC:49809
Mus musculus MBOAT2 MGD MGI:1914466
Felis catus MBOAT2 VGNC VGNC:63404
Bos taurus MBOAT2 VGNC VGNC:31287