IMPDH2 - inosine monophosphate dehydrogenase 2 Gene

中文名称：肌苷一磷酸脱氢酶 2

种属: Homo sapiens

同用名: IMPD2; IMPDH-II

基因 ID: 3615 | 基因类型: protein coding

关于 IMPDH2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,024,325-49,029,398 (from NCBI)

This gene has 36 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 136.8), skin (RPKM 49.4) and 25 other tissues.

功能概要

该基因编码从头鸟嘌呤核苷酸生物合成中的限速酶。因此，它参与维持 DNA 和 RNA 合成所需的细胞鸟嘌呤脱氧和核糖核苷酸池。编码的蛋白质催化肌苷 5'-单磷酸的 NAD 依赖性氧化为黄嘌呤 5'-单磷酸，然后再转化为鸟苷 5'-单磷酸。该基因在某些肿瘤中上调，表明它可能在恶性转化中发挥作用。[RefSeq 提供，2008 年 7 月]

This gene encodes the rate-limiting Enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]

IMPDH2 基因产物(4)

mRNA	Protein	Name
NM_000884.3	NP_000875.2	inosine-5'-monophosphate dehydrogenase 2 isoform 2
NM_001410759.1	NP_001397688.1	inosine-5'-monophosphate dehydrogenase 2 isoform 1
NM_001410760.1	NP_001397689.1	inosine-5'-monophosphate dehydrogenase 2 isoform 3
NM_001410761.1	NP_001397690.1	inosine-5'-monophosphate dehydrogenase 2 isoform 4

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 IMP dehydrogenase activity	IDA IDA: 通过直接分析推断	7903306	GOA
enables nucleotide binding	IDA IDA: 通过直接分析推断	14766016	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in GTP biosynthetic process	IDA IDA: 通过直接分析推断	7903306	GOA
involved in circadian rhythm	IDA IDA: 通过直接分析推断	28985504	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	14766016	GOA
located in cytosol	IDA IDA: 通过直接分析推断	31337707	GOA
located in nucleus	IDA IDA: 通过直接分析推断	14766016	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

IMPDH2 蛋白结构

IMPDH

CBS

0
100
200
300
400
514 a.a.

蛋白主名

其他名称

inosine-5'-monophosphate dehydrogenase 2

IMP (inosine 5'-monophosphate) dehydrogenase 2

IMPDH2 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	IMPDH2	P12268	POU6F2	Homo sapiens	P78424	Y2H Array	32296183
种属内	IMPDH2	P12268	POU6F2	Homo sapiens	P78424	Y2H Prey Pooling	32296183
种属内	IMPDH2	P12268	POU6F2	Homo sapiens	P78424	Validated Y2H	32296183
种属内	IMPDH2	P12268	IMPDH1	Homo sapiens	P20839-3	Y2H Prey Pooling	32296183
种属内	IMPDH2	P12268	IMPDH1	Homo sapiens	P20839-3	Validated Y2H	32296183
种属内	IMPDH2	P12268	IMPDH1	Homo sapiens	P20839-3	Y2H Array	32296183
种属内	IMPDH2	P12268	IL1F10	Homo sapiens	Q8WWZ1	Y2H Prey Pooling	32296183
种属内	IMPDH2	P12268	IL1F10	Homo sapiens	Q8WWZ1	Validated Y2H	32296183
种属内	IMPDH2	P12268	IL1F10	Homo sapiens	Q8WWZ1	Y2H Array	32296183
种属内	IMPDH2	P12268	TRAF2	Homo sapiens	Q12933	Validated Y2H	32296183
种属内	IMPDH2	P12268	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
种属内	IMPDH2	P12268	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
种属内	IMPDH2	P12268	APIP	Homo sapiens	Q96GX9	Y2H Prey Pooling	25416956
种属内	IMPDH2	P12268	APIP	Homo sapiens	Q96GX9	Validated Y2H	25416956
种属内	IMPDH2	P12268	STAT3	Homo sapiens	P40763	Validated Y2H	32296183
种属内	IMPDH2	P12268	STAT3	Homo sapiens	P40763	Y2H Prey Pooling	32296183
种属内	IMPDH2	P12268	AGR2	Homo sapiens	O95994	Y2H Prey Pooling	32296183
种属内	IMPDH2	P12268	AGR2	Homo sapiens	O95994	Y2H Array	32296183
种属内	IMPDH2	P12268	CPLANE2	Homo sapiens	Q9BU20	Y2H Prey Pooling	25416956
种属内	IMPDH2	P12268	CPLANE2	Homo sapiens	Q9BU20	Validated Y2H	32296183
种属内	IMPDH2	P12268	CPLANE2	Homo sapiens	Q9BU20	Y2H Array	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

Impdh2 Enzyme Activity, Variation In

IMPDH2V

Activity, Enzyme, Impdh2, Variation In

Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Autosomal Dominant Dopa-Responsive Dystonia	Autosomal Dominant Segawa Syndrome
Dyt5a	Hereditary Progressive Dystonia With Marked Diurnal Fluctuation
Gtpch1-Deficient Drd	Gtpch1-Deficient Dopa-Responsive Dystonia
Dopa-Responsive Dystonia, With Or Without Hyperphenylalaninemia	Dyt-Gch1
Dyt/Park-Gch1	Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome
Hpd With Marked Diurnal Fluctuation	Dopa-Responsive Dystonia

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-15869	Inauhzin		99.49%	否
HY-145286	IMPDH2-IN-2		99.73%	否
HY-169296	IMPDH2-IN-4		/	否
HY-RS06799	IMPDH2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	IMPDH2	VGNC	VGNC:67798
Canis familiaris	IMPDH2	VGNC	VGNC:42011
Rattus norvegicus	IMPDH2	RGD	RGD:735092
Macaca mulatta	IMPDH2	VGNC	VGNC:73740
Bos taurus	IMPDH2	VGNC	VGNC:30189
Mus musculus	IMPDH2	MGD	MGI:109367
Others	IMPDH2	NCBI

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