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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
KIRREL2 - Kirre Like Nephrin Family Adhesion Molecule 2
Alias:
NLG1
NEPH3
FILTRIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种I型跨膜蛋白,属于细胞粘附分子的免疫球蛋白超家族成员。编码的蛋白定位在胰腺β细胞的紧握连接处,并调节胰岛素分泌。在1型糖尿病患者的血清中已检测到针对编码蛋白的自身抗体。这个基因可能在肾小球发育中也起作用,这个基因在人类肾小球疾病中的表达减少已经被观察到。这个基因和相关相反链基因nephrin(GeneID:527362)由一个双向启动子调控。[由RefSeq,2016年7月提供]
Related ID:
NCBI:84063
ENSEMBL:ENSG00000126259
HGNC:18816
UNIPROT:Q6UWL6
OMIM:607762
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84063
11
15
15738 bp
75.09
152
2
9
8
KIRREL2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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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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Name
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Status
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References Literature
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