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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
NHERF2 - NHERF Family PDZ Scaffold Protein 2
Alias:
SIP1
OCTS2
SIP-1
TKA-1
E3KARP
NHE3RF2
NHERF-2
SLC9A3R2
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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NHERF家族的一员,该家族是PDZ支架蛋白。这些蛋白通过结合并调节膜受体的膜表达和蛋白质-蛋白质相互作用来调节许多细胞过程。编码的蛋白通过调节钠/氢交换蛋白3的活性在肠道钠吸收中发挥作用,也可能调节囊性纤维化跨膜调节器(CFTR)离子通道。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq,2011年11月提供]
Related ID:
NCBI:9351
ENSEMBL:ENSG00000065054
HGNC:11076
UNIPROT:Q15599
OMIM:606553
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9351
11
7
12125 bp
37.41
17
--
4
19
NHERF2 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
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Status
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References Literature
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