2. Gene
  3. MACROD2 - mono-ADP ribosylhydrolase 2 Gene

MACROD2 - mono-ADP ribosylhydrolase 2 Gene

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

中文名称：单-ADP 核糖水解酶 2

种属: Homo sapiens

同用名: C2orf133; C20orf133

基因 ID: 140733 | 基因类型: protein coding

关于 MACROD2

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:13,995,516-16,053,197 (from NCBI)

This gene has 15 transcripts (splice variants), 188 orthologues and 2 paralogues. Broad expression in lung (RPKM 4.7), brain (RPKM 4.0) and 20 other tissues.

功能概要

该基因编码的蛋白质是一种脱乙酰酶，参与从单 ADP 核糖基化蛋白质中去除 ADP 核糖。编码的蛋白质已显示在 DNA 损伤后从细胞核转移到细胞质。[RefSeq 提供，2017 年 5 月]

The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]

MACROD2 基因产物(5)

mRNA Protein Name
NM_001033087.2 NP_001028259.1 ADP-ribose glycohydrolase MACROD2 isoform 2
NM_001351661.2 NP_001338590.1 ADP-ribose glycohydrolase MACROD2 isoform 3
NM_001351663.2 NP_001338592.1 ADP-ribose glycohydrolase MACROD2 isoform 4
NM_001351664.2 NP_001338593.1 ADP-ribose glycohydrolase MACROD2 isoform 5
NM_080676.6 NP_542407.2 ADP-ribose glycohydrolase MACROD2 isoform 1
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 ADP-ribosylglutamate hydrolase activity IDA
IDA: 通过直接分析推断
23474714 GOA
enables deacetylase activity IDA
IDA: 通过直接分析推断
21257746 GOA
enables hydrolase activity, acting on glycosyl bonds IDA
IDA: 通过直接分析推断
23474712 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
23474712 GOA
involved in peptidyl-glutamate ADP-deribosylation IDA
IDA: 通过直接分析推断
23474714 GOA
involved in protein de-ADP-ribosylation IDA
IDA: 通过直接分析推断
23474712 GOA
involved in purine nucleoside metabolic process IDA
IDA: 通过直接分析推断
21257746 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
23474712 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

MACROD2 蛋白结构

Macro

Macro: Macro domain (88 - 200)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 425 a.a.
蛋白主名 其他名称

ADP-ribose glycohydrolase MACROD2

MACRO domain containing 2

关联疾病

疾病名称 别名
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia

HH21

Hypogonadotropic Hypogonadism 21 With Anosmia

Hypogonadotropic Hypogonadism 21 With Anosmia, Susceptibility To

Hypogonadism, Hypogonadotropic, Type 21 With/Without Anosmia
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Nephrotic Syndrome, Type 20

NPHS20

Nephrotic Syndrome Type 20

Nephrotic Syndrome 20
Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS07946 MACROD2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus MACROD2 MGD MGI:1920149
Macaca mulatta MACROD2 VGNC VGNC:95356
Felis catus MACROD2 VGNC VGNC:82878
Rattus norvegicus MACROD2 RGD RGD:1591318
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