1. Gene
  2. GPAT2 - glycerol-3-phosphate acyltransferase 2, mitochondrial Gene

GPAT2 - glycerol-3-phosphate acyltransferase 2, mitochondrial Gene

中文名称:甘油 3-磷酸酰基转移酶 2,线粒体

种属: Homo sapiens

同用名: CT123

基因 ID: 150763 | 基因类型: protein coding

关于 GPAT2

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,021,946-96,036,265 (from NCBI)

This gene has 12 transcripts (splice variants), 191 orthologues and 2 paralogues. Broad expression in testis (RPKM 7.1), spleen (RPKM 3.6) and 22 other tissues.

功能概要

启用甘油 3-磷酸 O-酰基转移酶活性。预计参与多个过程,包括甘油-3-磷酸代谢过程;甘油脂生物合成过程;和 piRNA 生物合成过程。预测位于线粒体外膜。预计在线粒体膜上有活性。 [由基因组资源联盟提供,2022 年 4 月]

Enables glycerol-3-phosphate O-acyltransferase activity. Predicted to be involved in several processes, including glycerol-3-phosphate metabolic process; glycerolipid biosynthetic process; and piRNA biosynthetic process. Predicted to be located in mitochondrial outer membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022]

GPAT2 基因产物(9)

mRNA Protein Name
NM_001321525.2 NP_001308454.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 2
NM_001321526.2 NP_001308455.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 2
NM_001321527.2 NP_001308456.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 2
NM_001321528.2 NP_001308457.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 3
NM_001321529.2 NP_001308458.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 4
NM_001321530.2 NP_001308459.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 5
NM_001321531.2 NP_001308460.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 6
NM_001389639.1 NP_001376568.1 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 9
NM_207328.4 NP_997211.2 glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables glycerol-3-phosphate O-acyltransferase activity EXP
EXP: 通过实验结果推断
18238778 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
蛋白主名 其他名称

glycerol-3-phosphate acyltransferase 2, mitochondrial

1-acylglycerol-3-phosphate O-acyltransferase GPAT2

关联疾病

疾病名称 别名
Coenzyme Q10 Deficiency, Primary, 9

COQ10D9

Primary Coenzyme Q10 Deficiency 9

Fetal Akinesia Deformation Sequence 4

FADS4

Fetal Akinesia Deformation Sequence Syndrome 4

Akinesia, Fetal, Deformation Sequence, Type 4

Complete Generalized Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 2

Congenital Generalized Lipodystrophy Type 2

CGL2

Berardinelli-Seip Congenital Lipodystrophy Type 2

Berardinelli-Seip Syndrome

Brunzell Syndrome Bscl2-Related

Total Lipodystrophy And Acromegaloid Gigantism

Berardinelli-Seip Congenital Lipodystrophy, Type 2

Seip Syndrome

Berardinelli Syndrome

Lipodystrophy, Total, And Acromegaloid Gigantism

Lipoatrophic Diabetes, Congenital

Lipodystrophy, Berardinelli-Seip Congenital, Type 2

Brunzell Syndrome, Bscl2-Related

Congenital Lipoatrophic Diabetes

Congenital Generalized Lipodystrophy 2

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

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

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

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
Felis catus GPAT2 VGNC VGNC:62653
Rattus norvegicus GPAT2 RGD RGD:1304904
Canis familiaris GPAT2 VGNC VGNC:41362
Bos taurus GPAT2 VGNC VGNC:29512
Mus musculus GPAT2 MGD MGI:2684962
Macaca mulatta GPAT2 VGNC VGNC:73018