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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
CNTNAP3 - Contactin Associated Protein Family Member 3
Alias:
CASPR3
CNTNAP3A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于细胞识别分子的NCP家族。这个家族代表了神经元的独特子群。NCP蛋白质在脊椎动物中调节神经元-胶质细胞相互作用,在无脊椎动物中调节胶质细胞-胶质细胞接触。这个基因编码的蛋白质可能在神经系统内的细胞识别中发挥作用。已经描述了编码不同异构体的替代剪接转录变异体,但它们的生物学性质尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:79937
ENSEMBL:ENSG00000106714
HGNC:13834
UNIPROT:Q9BZ76
OMIM:610517
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79937
2
24
223458 bp
140.69
67
--
5
3
CNTNAP3 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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
Reset
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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