2. Gene
  3. NSMCE2 - NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase Gene

NSMCE2 - NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase Gene

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

中文名称：NSE2 (MMS21) 同源物，SMC5-SMC6 复合物 SUMO 连接酶

种属: Homo sapiens

同用名: NSE2; MMS21; ZMIZ7; C8orf36

基因 ID: 286053 | 基因类型: protein coding

关于 NSMCE2

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:125,091,860-125,367,120 (from NCBI)

This gene has 13 transcripts (splice variants), 130 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 2.5), lymph node (RPKM 2.3) and 25 other tissues.

功能概要

该基因编码 E3 小泛素相关修饰剂 (SUMO) 连接酶家族的一个成员，该连接酶介导 SUMO 蛋白与参与核转运、转录、染色体分离和 DNA 修复的蛋白质的连接。编码的蛋白质是染色体结构维护 (SMC) 5/6 复合体的一部分，它在基因组维护、促进染色体分离和抑制有丝分裂重组方面起着关键作用。在胚胎第 10.5 天之前敲除直系同源小鼠基因是致命的。该基因中自然发生的突变会破坏 SUMO 连接酶活性，与原始侏儒症和极端胰岛素抵抗有关。[RefSeq 提供，2017 年 3 月]

This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO Ligase activity, are associated with primordial dwarfism and extreme Insulin resistance. [provided by RefSeq, Mar 2017]

NSMCE2 基因产物(4)

mRNA Protein Name
NM_001349485.2 NP_001336414.1 E3 SUMO-protein ligase NSE2 isoform 1
NM_001349486.2 NP_001336415.1 E3 SUMO-protein ligase NSE2 isoform 1
NM_001349487.2 NP_001336416.1 E3 SUMO-protein ligase NSE2 isoform 2
NM_173685.4 NP_775956.1 E3 SUMO-protein ligase NSE2 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 SUMO transferase activity EXP
EXP: 通过实验结果推断
16055714 GOA
enables SUMO transferase activity IDA
IDA: 通过直接分析推断
17589526 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18086888 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular senescence IMP
IMP: 通过突变表型推断
17589526 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
16810316 GOA
NOT involved in double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
16810316 GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion IMP
IMP: 通过突变表型推断
19502785 GOA
involved in positive regulation of mitotic metaphase/anaphase transition IMP
IMP: 通过突变表型推断
19502785 GOA
involved in telomere maintenance via recombination IMP
IMP: 通过突变表型推断
17589526 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
17589526 GOA
part of Smc5-Smc6 complex IDA
IDA: 通过直接分析推断
18086888 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
17589526 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

NSMCE2 蛋白结构

zf-Nse

zf-Nse: Zinc-finger of the MIZ type in Nse subunit (156 - 216)

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

E3 SUMO-protein ligase NSE2

E3 SUMO-protein transferase NSE2

NSMCE2 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
NSMCE2 Q96MF7 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
种属内
NSMCE2 Q96MF7 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
种属内
NSMCE2 Q96MF7 FGFR3 Homo sapiens P22607
Y2H Array
32814053
种属内
NSMCE2 Q96MF7 GSN Homo sapiens P06396
Y2H Pooling
32814053
种属内
NSMCE2 Q96MF7 GSN Homo sapiens P06396
Validated Y2H
32814053
种属内
NSMCE2 Q96MF7 GSN Homo sapiens P06396
Y2H Array
32814053
种属内
NSMCE2 Q96MF7 TXLNA Homo sapiens P40222
Y2H Prey Pooling
25416956
种属内
NSMCE2 Q96MF7 TXLNA Homo sapiens P40222
Y2H Prey Pooling
32296183
种属内
NSMCE2 Q96MF7 TXLNA Homo sapiens P40222
Y2H Array
32296183
种属内
NSMCE2 Q96MF7 TXLNA Homo sapiens P40222
Y2H Array
25416956
种属内
NSMCE2 Q96MF7 SPRED1 Homo sapiens Q7Z699
Y2H Pooling
32814053
种属内
NSMCE2 Q96MF7 SPRED1 Homo sapiens Q7Z699
Validated Y2H
32814053
种属内
NSMCE2 Q96MF7 SPRED1 Homo sapiens Q7Z699
Y2H Array
32814053
种属内
NSMCE2 Q96MF7 SMC6 Homo sapiens Q96SB8
Anti Bait CoIP
18086888
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
Seckel Syndrome 10

SCKL10
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia
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-RS09598 NSMCE2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta NSMCE2 VGNC VGNC:84095
Mus musculus NSMCE2 MGD MGI:1915751
Bos taurus NSMCE2 VGNC VGNC:32280
Rattus norvegicus NSMCE2 RGD RGD:1305156
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