2. Gene
  3. DPH2 - diphthamide biosynthesis 2 Gene

DPH2 - diphthamide biosynthesis 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：双苯二甲胺生物合成 2

种属: Homo sapiens

同用名: DPH2L2; DEDSSH2

基因 ID: 1802 | 基因类型: protein coding

关于 DPH2

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:43,970,010-43,973,369 (from NCBI)

This gene has 17 transcripts (splice variants), 200 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 6.6), appendix (RPKM 6.4) and 25 other tissues.

功能概要

该基因是与酵母基因 dph2 相似的两个人类基因之一。酵母基因通过其补充双苯二胺突变株的能力而被鉴定，因此可能在双苯二胺生物合成中发挥作用。 Diphthamide 是一种翻译后修饰的组氨酸残基，存在于延伸因子 2 (EF2) 中，是白喉毒素 ADP-核糖基化的靶标。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2016 年 1 月]

This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

DPH2 基因产物(9)

mRNA Protein Name
NM_001039589.2 NP_001034678.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform b
NM_001319165.2 NP_001306094.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform c
NM_001319166.2 NP_001306095.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform d
NM_001319167.2 NP_001306096.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform e
NM_001319168.2 NP_001306097.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform c
NM_001319169.2 NP_001306098.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform f
NM_001319170.2 NP_001306099.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform e
NM_001319171.2 NP_001306100.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform g
NM_001384.5 NP_001375.2 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform a
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 2-(3-amino-3-carboxypropyl)histidine synthase activity EXP
EXP: 通过实验结果推断
20559380 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 protein histidyl modification to diphthamide IMP
IMP: 通过突变表型推断
32576952 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

DPH2 蛋白结构

Diphthamide_syn

Diphthamide_syn: Putative diphthamide synthesis protein (54 - 369)

  • 0
  • 100
  • 200
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  • 400
  • 489 a.a.
蛋白主名 其他名称

2-(3-amino-3-carboxypropyl)histidine synthase subunit 2

DPH2 homolog

DPH2 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
Intra DPH2 Q9BQC3 IL17A Homo sapiens Q16552
Validated Y2H
25416956
Intra DPH2 Q9BQC3 IL17A Homo sapiens Q16552
Y2H Array
25416956
Intra DPH2 Q9BQC3 NEK6 Homo sapiens Q9HC98-4
Validated Y2H
32296183
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
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2

DEDSSH2

Diphthamide Deficiency Syndrome 2
Diphtheria

Corynebacterium Infections

Corynebacterium Infection

Diphtherial Infection

Infection Due To Corynebacterium Diphtheriae
Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency

IMD24

Scid Due To Ctps1 Deficiency

Immunodeficiency, Type 24
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03953 DPH2 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 DPH2 VGNC VGNC:28179
Macaca mulatta DPH2 VGNC VGNC:71974
Felis catus DPH2 VGNC VGNC:61597
Canis familiaris DPH2 VGNC VGNC:40068
Mus musculus DPH2 MGD MGI:1914978
Rattus norvegicus DPH2 RGD RGD:1304634
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