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中文人类
DSC2 - Desmocollin 2
Alias:
DG2
DSC3
CDHF2
ARVD11
DGII/III
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这个基因编码一个desmocollin蛋白亚家族的成员。Desmocollins，与desmogleins一起，是类似钙粘素的跨膜糖蛋白，是桥粒的主要组成部分。桥粒是帮助抵抗剪切力的细胞间连接，并在受到机械应力的细胞中高浓度存在。这个基因与其他desmocollin家族成员一起位于染色体18上。这个基因的突变与致心律失常右心室发育异常-11有关，并且蛋白质表达减少已经在几种癌症中描述过。可变剪接导致多个转录变异体。[RefSeq，2015年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DSC2 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
