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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
PTPN22 - Protein Tyrosine Phosphatase Non-receptor Type 22
Alias:
LYP
PEP
LYP1
LYP2
PTPN8
PTPN22.5
PTPN22.6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码属于非受体类4亚家族中的蛋白质酪氨酸磷酸酶家族的成员。编码的蛋白质是一种淋巴特异性胞内磷酸酶,与分子接头蛋白CBL结合,可能参与调节T细胞受体信号通路中CBL的功能。这个基因的突变可能与一系列自身免疫性疾病有关,包括1型糖尿病、类风湿性关节炎、系统性红斑狼疮和Graves病。已经描述了编码不同异构体的可变剪接转录变异体。[由RefSeq,2009年3月提供]
Related ID:
NCBI:26191
ENSEMBL:ENSG00000134242
HGNC:9652
UNIPROT:Q9Y2R2
OMIM:600716
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26191
13
21
57949 bp
91.70
48
9
17
26
PTPN22 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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Name
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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