PGAM2 - phosphoglycerate mutase 2 Gene

中文名称：磷酸甘油酸变位酶 2

种属: Homo sapiens

同用名: GSD10; PGAMM; PGAM-M

基因 ID: 5224 | 基因类型: protein coding

关于 PGAM2

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,062,727-44,065,567 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 250.4), testis (RPKM 58.7) and 2 other tissues.

功能概要

磷酸甘油酸变位酶 (PGAM) 在糖酵解途径中催化 3-磷酸甘油酸 (3-PGA) 向 2-磷酸甘油酸 (2-PGA) 的可逆反应。 PGAM 是一种二聚酶，在不同组织中含有不同比例的慢速移动肌肉 (MM) 同工酶、快速移动脑 (BB) 同工酶和混合形式 (MB) 。该基因编码肌肉特异性 PGAM 亚基。该基因的突变导致肌肉磷酸甘油酸变位酶效率，也称为糖原贮积病 X。[RefSeq 提供，2009 年 9 月]

Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric Enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]

PGAM2 基因产物(1)

mRNA	Protein	Name
NM_000290.4	NP_000281.2	phosphoglycerate mutase 2

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 identical protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables phosphoglycerate mutase activity	EXP EXP: 通过实验结果推断	4827367	GOA
enables phosphoglycerate mutase activity	IMP IMP: 通过突变表型推断	6262916	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in glycolytic process	IMP IMP: 通过突变表型推断	6262916	GOA
involved in striated muscle contraction	IMP IMP: 通过突变表型推断	6262916	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

PGAM2 蛋白结构

His_Phos_1

0
100
200
253 a.a.

蛋白主名

其他名称

phosphoglycerate mutase 2

BPG-dependent PGAM 2

PGAM2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	PGAM2	P15259	CLVS2	Homo sapiens	Q5SYC1	Y2H Prey Pooling	32296183
种属内	PGAM2	P15259	CLVS2	Homo sapiens	Q5SYC1	Validated Y2H	32296183
种属内	PGAM2	P15259	CLVS2	Homo sapiens	Q5SYC1	Y2H Array	32296183
种属内	PGAM2	P15259	BPGM	Homo sapiens	P07738	Y2H Array	32296183
种属内	PGAM2	P15259	BPGM	Homo sapiens	P07738	Anti Tag CoIP	28514442
种属内	PGAM2	P15259	BPGM	Homo sapiens	P07738	Anti Tag CoIP	33961781
种属内	PGAM2	P15259	BPGM	Homo sapiens	P07738	Y2H Prey Pooling	32296183
种属内	PGAM2	P15259	PGAM1	Homo sapiens	P18669	Anti Tag CoIP	33961781
种属内	PGAM2	P15259	KATNAL1	Homo sapiens	Q9BW62	Validated Y2H	32296183
种属内	PGAM2	P15259	PGAM2	Homo sapiens	P15259	Y2H Prey Pooling	32296183
种属内	PGAM2	P15259	DYNC1LI1	Homo sapiens	Q9Y6G9	Validated Y2H	32296183
种属内	PGAM2	P15259	PGAM4	Homo sapiens	Q8N0Y7	Anti Tag CoIP	33961781
种属内	PGAM2	P15259	PGAM2	Homo sapiens	P15259	Validated Y2H	32296183
种属内	PGAM2	P15259	PGAM4	Homo sapiens	Q8N0Y7	Anti Tag CoIP	28514442
种属内	PGAM2	P15259	PGAM2	Homo sapiens	P15259	Y2H Array	32296183
种属内	PGAM2	P15259	PGAM1	Homo sapiens	P18669	Anti Tag CoIP	28514442

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Glycogen Storage Disease X

Myopathy Due To Phosphoglycerate Mutase Deficiency	GSD10
Pgamm Deficiency	Gsd X
Muscle Phosphoglycerate Mutase Deficiency	Glycogen Storage Disease Type X
Phosphoglycerate Mutase Deficiency	Gsdx
Pgam Deficiency	Phosphoglycerate Mutase, Muscle, Deficiency Of
Deficiency Mutase Phosphoglycerate	Glycogen Storage Disease Due To Phosphoglycerate Mutase Deficiency
Gsd Due To Phosphoglycerate Mutase Deficiency	Gsd Type 10
Glycogenosis Due To Phosphoglycerate Mutase Deficiency	Glycogen Storage Disease 10
Storage Disease, Glycogen, Type X

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Myoglobinuria

Myopathy

Muscular Diseases

Myopathies

Chronic Polyneuropathy

Inclusion Conjunctivitis

Chlamydial Conjunctivitis	Inclusion Blennorrhoea
Paratrachoma	Adult Inclusion Conjunctivitis
Inclusion Blenorrhea	Conjunctivitis, Inclusion
Neonatal Chlamydial Conjunctivitis	Inclusion Conjunctivitis Of The Adult
Chronic Conjunctivitis Due To Chlamydia Trachomatis	Inclusion Conjunctivitis Due To Chlamydia Trachomatis
Acute Follicular Conjunctivitis, Chlamydial	Adult Chlamydial Keratoconjunctivitis

Glycogen Storage Disease Vii

Glycogen Storage Disease Type Vii	Muscle Phosphofructokinase Deficiency
Tarui Disease	GSD7
Pfkm Deficiency	Gsd Vii
Glycogen Storage Disease, Type Vii	Glycogen Storage Disease Type 7
Phosphofructokinase Deficiency	Glycogenosis Type Vii
Phosphofructokinase Myopathy	Glycogenosis 7
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Gsd Due To Muscle Phosphofructokinase Deficiency
Gsd Type 7	Gsd Type Vii
Glycogenosis Due To Muscle Phosphofructokinase Deficiency	Glycogenosis Type 7
Glycogen Storage Disease 7	Gsd-Vii
Storage Disease, Glycogen, Type Vii

Glycogen Storage Disease V

Mcardle Disease	Myophosphorylase Deficiency
Glycogen Storage Disease Type V	Muscle Glycogen Phosphorylase Deficiency
Pygm Deficiency	Gsd V
Glycogen Storage Disease, Type V	Glycogenosis Type V
Glycogen Storage Disease Type 5	GSD5
Pygmy	Mcardle'S Disease
Mcardle Type Glycogen Storage Disease	Gsd Type V
Pygmy, African	Gsdv
Gsd 5	Glycogenosis 5
Mcardle Syndrome	Muscle Phosphorylase Deficiency
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Gsd Due To Muscle Glycogen Phosphorylase Deficiency
Gsd Type 5	Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
Glycogenosis Type 5	Glycogen Storage Disease 5
Gsd-V	Mcardles Disease
Storage Disease, Glycogen, Type V

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-RS10375	PGAM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	PGAM2	VGNC	VGNC:32779
Canis familiaris	PGAM2	VGNC	VGNC:44451
Mus musculus	PGAM2	MGD	MGI:1933118
Felis catus	PGAM2	VGNC	VGNC:68811
Macaca mulatta	PGAM2	VGNC	VGNC:81738
Rattus norvegicus	PGAM2	RGD	RGD:3313

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PGAM2 - phosphoglycerate mutase 2 Gene

关于 PGAM2

功能概要

PGAM2 基因产物(1)

PGAM2 蛋白结构

PGAM2 蛋白互作信息

关联疾病

直系同源

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PGAM2 - phosphoglycerate mutase 2 Gene

关于 PGAM2

功能概要

PGAM2 基因产物(1)

PGAM2 蛋白结构

PGAM2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z