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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
CNTNAP4 - Contactin Associated Protein Family Member 4
Alias:
CASPR4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码神经素蛋白家族的成员。这个家族的成员在脊椎动物神经系统中作为细胞粘附分子和受体发挥作用。这个蛋白质包含表皮生长因子重复序列和层粘连蛋白G结构域。此外,它还包含F5/8型C结构域、盘状素/神经磷脂酶C-和纤维蛋白原样结构域以及血栓素N端类似结构域。这个蛋白质可能还在多巴胺能和GABA能系统中正常的神经传递中发挥作用,而这个基因的突变可能与某些精神疾病有关。这个基因的一个内含子中的多态性可能与寿命有关。[由RefSeq,2016年4月提供]
Related ID:
NCBI:85445
ENSEMBL:ENSG00000152910
HGNC:18747
UNIPROT:Q9C0A0
OMIM:610518
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
85445
13
24
283357 bp
145.27
20
--
3
4
CNTNAP4 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
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Acting
Regulation
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Residues
Reference
Score
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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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