AMPD2 - adenosine monophosphate deaminase 2 Gene

中文名称：一磷酸腺苷脱氨酶 2

种属: Homo sapiens

同用名: PCH9; SPG63

基因 ID: 271 | 基因类型: protein coding

关于 AMPD2

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,619,837-109,632,055 (from NCBI)

This gene has 56 transcripts (splice variants), 285 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 34.7), adrenal (RPKM 15.5) and 24 other tissues.

功能概要

由该基因编码的蛋白质通过将 AMP 转化为 IMP 在嘌呤代谢中很重要。编码的蛋白质充当同源四聚体，是哺乳动物中发现的三种 AMP 脱氨酶之一。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2012 年 4 月]

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

AMPD2 基因产物(5)

mRNA	Protein	Name
NM_001257361.2	NP_001244290.1	AMP deaminase 2 isoform 4
NM_001308170.1	NP_001295099.1	AMP deaminase 2 isoform 5
NM_001368809.2	NP_001355738.1	AMP deaminase 2 isoform 1
NM_004037.9	NP_004028.4	AMP deaminase 2 isoform 1
NM_139156.4	NP_631895.1	AMP deaminase 2 isoform 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 AMP deaminase activity	IGI IGI: 通过遗传相互作用推断	23911318	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21044950	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within IMP biosynthetic process	IGI IGI: 通过遗传相互作用推断	23911318	GOA
involved in cyclic purine nucleotide metabolic process	IMP IMP: 通过突变表型推断	23911318	GOA
acts upstream of or within energy homeostasis	IGI IGI: 通过遗传相互作用推断	23911318	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

AMPD2 蛋白结构

A_deaminase

0
200
400
600
800
879 a.a.

蛋白主名

其他名称

AMP deaminase 2

AMPD

AMPD2 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	AMPD2	Q01433	TERF1	Homo sapiens	P54274	Pull Down	21044950
种属内	AMPD2	Q01433	CCNDBP1	Homo sapiens	O95273	Y2H Array	31515488
种属内	AMPD2	Q01433	CCNDBP1	Homo sapiens	O95273	Validated Y2H	25416956

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

Pontocerebellar Hypoplasia, Type 9

Pontocerebellar Hypoplasia Type 9	PCH9
Pontocerebellar Hypoplasia 9	Hypoplasia, Pontocerebellar, Type 9

Spastic Paraplegia 63, Autosomal Recessive

SPG63	Hereditary Spastic Paraplegia 63
Spastic Paraplegia 63	Autosomal Recessive Spastic Paraplegia 63
Autosomal Recessive Spastic Paraplegia Type 63	Paraplegia, Spastic, Type 63, Autosomal Recessive

Spastic Ataxia

Spax	Ataxia, Spastic

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Spastic Paraplegia 74, Autosomal Recessive

SPG74	Hereditary Spastic Paraplegia 74
Autosomal Recessive Spastic Paraplegia 74	Autosomal Recessive Spastic Paraplegia Type 74
Paraplegia, Spastic, Autosomal Recessive, Type 74

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Pontocerebellar Hypoplasia, Type 12

PCH12	Pontocerebellar Hypoplasia Type 12
Coasy-Related Pontocerebellar Hypoplasia	Pontocerebellar Hypoplasia 12
Doid:0112327	Hypoplasia, Pontocerebellar, Type 12

Pontocerebellar Hypoplasia, Type 11

PCH11	Pontocerebellar Hypoplasia Type 11
Pontocerebellar Hypoplasia Due To Tbc1d23	Pontocerebellar Hypoplasia 11
Doid:0112324

Spastic Paraplegia 64, Autosomal Recessive

SPG64	Hereditary Spastic Paraplegia 64
Autosomal Recessive Spastic Paraplegia Type 64	Autosomal Recessive Spastic Paraplegia 64
Paraplegia, Spastic, Type 64, Autosomal Recessive

Spastic Paraplegia 45, Autosomal Recessive

SPG45	Hereditary Spastic Paraplegia 45
Autosomal Recessive Spastic Paraplegia Type 45	Autosomal Recessive Spastic Paraplegia Type 65
Spg65	Autosomal Recessive Spastic Paraplegia 45
Paraplegia, Spastic, Type 45, Autosomal Recessive

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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-103673	AMPD2 inhibitor 1	Inhibitor	99.52%	否
HY-152199	AMPD2 inhibitor 2	Inhibitor	/	否
HY-RS00667	AMPD2 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	AMPD2	VGNC	VGNC:69807
Bos taurus	AMPD2	VGNC	VGNC:25874
Rattus norvegicus	AMPD2	RGD	RGD:2110
Canis familiaris	AMPD2	VGNC	VGNC:37839
Felis catus	AMPD2	VGNC	VGNC:67518
Mus musculus	AMPD2	MGD	MGI:88016

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

AMPD2 - adenosine monophosphate deaminase 2 Gene

关于 AMPD2

功能概要

AMPD2 基因产物(5)

AMPD2 蛋白结构

AMPD2 蛋白互作信息

关联疾病

直系同源

热门区域

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AMPD2 - adenosine monophosphate deaminase 2 Gene

关于 AMPD2

功能概要

AMPD2 基因产物(5)

AMPD2 蛋白结构

AMPD2 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