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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
ERBB4 - Erb-b2 Receptor Tyrosine Kinase 4
Alias:
HER4
ALS19
p180erbB4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是Tyr蛋白激酶家族和表皮生长因子受体亚家族的成员。它编码一个具有多个富含半胱氨酸结构域、一个跨膜结构域、一个酪氨酸激酶结构域、一个磷酸肌醇-3激酶结合位点和一个PDZ结构域结合基序的单通过类型I膜蛋白。该蛋白与神经调节素和其他因子结合并被其激活,并诱导各种细胞反应,包括有丝分裂和分化。多个蛋白水解事件允许胞浆片段和细胞外片段的释放。这个基因的突变与癌症有关。已经描述了编码不同蛋白质异型的可变剪接变体;然而,并非所有变体都得到了充分的研究。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2066
ENSEMBL:ENSG00000178568
HGNC:3432
UNIPROT:Q15303
OMIM:600543
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2066
11
28
1163086 bp
146.81
405
3
12
52
ERBB4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
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No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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