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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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ERBB2 - Erb-b2 Receptor Tyrosine Kinase 2
Alias:
NEU
NGL
HER2
TKR1
CD340
HER-2
VSCN2
MLN 19
MLN-19
c-ERB2
c-ERB-2
HER-2/neu
p185(erbB2)
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个表皮生长因子(EGF)受体家族成员,该受体酪氨酸激酶。这个蛋白本身没有配体结合域,因此不能结合生长因子。然而,它可以紧密地与其他配体结合的EGF受体家族成员结合,形成异二聚体,稳定配体结合,并增强下游信号通路,如涉及有丝分裂激活蛋白激酶和磷脂酰肌醇3激酶的信号通路的激活。异构体a的氨基酸位置654和655(异构体b的位置624和625)的等位基因变异已有报道,最常见的等位基因是Ile654/Ile655。这个基因的扩增和/或过表达已在包括乳腺癌和卵巢肿瘤在内的多种癌症中报道。可选的剪接导致几个额外的转录变异体,一些编码不同的异构体,而其他的一些尚未完全表征。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2064
ENSEMBL:ENSG00000141736
HGNC:3430
UNIPROT:P04626
OMIM:164870
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2064
31
27
40565 bp
137.91
546
9
22
50
ERBB2 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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