人类

NSMCE2 - NSE2 (MMS21) Homolog, SMC5-SMC6 Complex SUMO Ligase

Alias:
NSE2
MMS21
ZMIZ7
C8orf36
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个E3泛素样修饰(SUMO)连接酶家族成员,该家族成员可以介导SUMO蛋白附着到参与核运输、转录、染色体分离和DNA修复的蛋白质上。编码的蛋白质是染色体结构维护(SMC)5/6复合体的一部分,该复合体在基因组维护中起关键作用,促进染色体分离并抑制有丝分裂重组。正交的鼠基因敲除在胚胎第10.5天之前是致命的。这个基因中自然发生的消除SUMO连接酶活性的突变与原始侏儒症和极端胰岛素抵抗相关。[RefSeq,2017年3月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
14
8
275261 bp
27.93
58
2
7
17

NSMCE2 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.

Gene Expression

Tissue-specific RNA expression

Organ
Abundance
Alphabetical

Cell-specific RNA expression

Organ
Abundance
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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