1. Gene
  2. CTPS2 - CTP synthase 2 Gene

CTPS2 - CTP synthase 2 Gene

中文名称:CTP 合成酶 2

种属: Homo sapiens

同用名: GATD5B

基因 ID: 56474 | 基因类型: protein coding

关于 CTPS2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:16,587,999-16,712,910 (from NCBI)

This gene has 5 transcripts (splice variants), 133 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 4.6), duodenum (RPKM 4.6) and 25 other tissues.

功能概要

由该基因编码的蛋白质催化从 UTP 形成 CTP,同时谷氨酰胺脱氨为谷氨酸。这种蛋白质是胞嘧啶核苷酸合成中的限速酶,在各种代谢过程中起着重要作用,并提供合成 RNA 和 DNA 所必需的前体。表现出细胞增殖增加的癌细胞也表现出这种编码蛋白的活性增加。因此,这种蛋白质是选择性化疗的一个有吸引力的目标。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 8 月]

The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting Enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CTPS2 基因产物(3)

mRNA Protein Name
NM_001144002.2 NP_001137474.1 CTP synthase 2
NM_019857.5 NP_062831.3 CTP synthase 2
NM_175859.3 NP_787055.1 CTP synthase 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 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

CTPS2 蛋白结构

CTP_synth_N

CTP_synth_N: CTP synthase N-terminus (1 - 273)

GATase

GATase: Glutamine amidotransferase class-I (310 - 543)

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  • 586 a.a.
蛋白主名 其他名称

CTP synthase 2

CTP synthase II

关联疾病

疾病名称 别名
Nemaline Myopathy 7

NEM7

Nemaline Myopathy 7, Autosomal Recessive

Cfl2-Related Nemaline Myopathy

Myopathy, Nemaline, Type 7

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
Rattus norvegicus CTPS2 RGD RGD:1563369
Felis catus CTPS2 VGNC VGNC:61261
Mus musculus CTPS2 MGD MGI:1933185
Macaca mulatta CTPS2 VGNC VGNC:71550
Bos taurus CTPS2 VGNC VGNC:27809
Canis familiaris CTPS2 VGNC VGNC:39705