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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
NRXN2 - Neurexin 2
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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基因家族的成员。这些基因的产品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。这些基因使用两个启动子。大多数转录本是由上游启动子产生的,并编码α-神经素异构体,而较少的转录本是下游启动子产生的,并编码β-神经素异构体。α-神经素含有表皮生长因子样(EGF样)序列和层粘连蛋白G结构域,已被证明与神经素亲和素相互作用。β-神经素缺乏EGF样序列,并含有较少的层粘连蛋白G结构域比α-神经素。替代剪接和使用替代启动子可能生成数千种转录本变异(PMID: 12036300,PMID: 11944992)。[由RefSeq,2010年6月提供]
Related ID:
NCBI:9379
ENSEMBL:ENSG00000110076
HGNC:8009
UNIPROT:P58401
OMIM:600566
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9379
10
23
117024 bp
184.98
183
--
11
4
NRXN2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
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Mutations
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CAS Number
Status
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References Literature
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