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  2. NUDT2 - nudix hydrolase 2 Gene

NUDT2 - nudix hydrolase 2 Gene

中文名称:nudix 水解酶 2

种属: Homo sapiens

同用名: APAH1; IDDPN

基因 ID: 318 | 基因类型: protein coding

关于 NUDT2

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,329,569-34,343,699 (from NCBI)

This gene has 4 transcripts (splice variants), 203 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 11.6), prostate (RPKM 10.9) and 25 other tissues.

功能概要

该基因编码核苷酸焦磷酸酶 MutT 家族的一个成员,该家族是更大的 NUDIX 水解酶家族的一个子集。该基因产物具有在某些核苷酸焦磷酸酶中发现的 MutT 序列基序的修饰。该酶不对称水解 Ap4A 以产生 AMP 和 ATP,并负责维持二核苷酸 Ap4A 的细胞内水平,其功能尚未确定。该基因可能是一个候选的抑癌基因。已在该位点观察到选择性剪接,并已鉴定出全部编码相同蛋白质的四种转录物变体。[RefSeq 提供,2011 年 9 月]

This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The Enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

NUDT2 基因产物(4)

mRNA Protein Name
NM_001161.5 NP_001152.1 bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]
NM_001244390.2 NP_001231319.1 bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]
NM_147172.3 NP_671701.1 bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]
NM_147173.3 NP_671702.1 bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

NUDT2 蛋白结构

NUDIX

NUDIX: NUDIX domain (14 - 132)

  • 0
  • 100
  • 147 a.a.
蛋白主名 其他名称

bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

Ap4A hydrolase 1

重组 NUDT2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77108 NUDT2 Protein, Human (His) P50583 (M1-A147) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy

IDDPN

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

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 NUDT2 VGNC VGNC:68590
Rattus norvegicus NUDT2 RGD RGD:1303023
Bos taurus NUDT2 VGNC VGNC:32335
Mus musculus NUDT2 MGD MGI:1913651
Canis familiaris NUDT2 VGNC VGNC:44033
Others NUDT2 NCBI