人类

COL6A2 - Collagen Type VI Alpha 2 Chain

Alias:
UCMD1
BTHLM1
PP3610
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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VI型胶原的三条α链之一,VI型胶原是一种在大多数结缔组织中发现的有珠状纤维胶原。这个基因的产物包含几个与von Willebrand因子A型结构域相似的结构域。这些结构域已被证明可以结合细胞外基质蛋白,这种相互作用解释了这种胶原在组织基质成分中的重要性。这个基因的突变与Bethlem肌病和Ullrich硬肌强直性肌营养不良有关。已经在这个基因中发现了三种转录变异体。[由RefSeq,2008年7月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3
28
34737 bp
108.58
1804
7
5
25

COL6A2 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
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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Comparison
Al agent
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