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中文人类
COL11A2 - Collagen Type XI Alpha 2 Chain
Alias:
HKE5
PARP
STL3
FBCG2
DFNA13
DFNB53
OSMEDA
OSMEDB
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这个基因编码XI型胶原的两种α链之一，一种次要的原纤维胶原。它位于染色体6上，非常接近但独立于视黄酸X受体β基因。XI型胶原是一种异源三聚体，但第三个α链是一种翻译后修饰的α1型II链。这种XI型链的蛋白水解加工产生PARP，一种富含脯氨酸/精氨酸的蛋白质，具有氨基末端结构域。该基因的突变与III型Stickler综合征、耳椎骨关节病发育异常（OSMED综合征）、Weissenbacher-Zweymuller综合征、常染色体显性非综合征性感音神经性13耳聋（DFNA13）和常染色体隐性非综合征性感音神经性53耳聋（DFNB53）有关。可变剪接导致多个转录变异体。一个相关的假基因位于染色体6上的附近区域。[由RefSeq，2009年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL11A2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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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
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Name
MGI
Strain of Origin
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CAS Number
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References Literature
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