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中文人类
SETD2 - SET Domain Containing 2, Histone Lysine Methyltransferase
Alias:
LLS
HYPB
SET2
HIF-1
HIP-1
KMT3A
MRD70
RAPAS
HBP231
HSPC069
p231HBP
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亨廷顿病（HD）是一种以纹状体神经元丧失为特征的神经退行性疾病，由HD蛋白huntingtin中的多聚谷氨酰胺束扩张引起。该基因编码一种属于具有WW基序的huntingtin相互作用蛋白类的蛋白质。该蛋白质是一种特异性的组蛋白H3赖氨酸-36甲基转移酶，该残基的甲基化与活跃染色质相关。该蛋白质还包含一个新的转录激活结构域，已被发现与超磷酸化的RNA聚合酶II相关。[RefSeq，2008年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SETD2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* 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
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
