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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TCTN2 - Tectonic Family Member 2
Alias:
MKS8
TECT2
JBTS24
C12orf38
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于构造家族的I型膜蛋白。研究表明,这个蛋白可能参与hedgehog信号传导,对纤毛生成是必需的。这个基因的突变与Meckel综合症8型有关。已经发现这个基因的不同剪接转录变异体,它们编码不同的异构体。[RefSeq,2011年10月提供]
Related ID:
NCBI:79867
ENSEMBL:ENSG00000168778
HGNC:25774
UNIPROT:Q96GX1
OMIM:613846
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79867
5
18
37287 bp
76.87
577
5
4
7
TCTN2 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
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Alphabetical
Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
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Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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