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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
PTPRH - Protein Tyrosine Phosphatase Receptor Type H
Alias:
SAP1
R-PTP-H
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是蛋白质酪氨酸磷酸酶(PTP)家族的成员。PTP被认为是调节各种细胞过程的信号分子,包括细胞生长、分化、有丝分裂周期和癌基因转化。这个PTP具有一个胞外区域、一个单跨膜区域和一个胞内催化域,因此代表一个受体型PTP。胞外区域含有8个纤维连接蛋白型III类似重复序列和多个N-糖基化位点。该基因主要表达在大脑和肝脏中,在心脏和胃部表达较低水平。还发现其在几种癌细胞系中表达,但在相应的正常组织中不表达。可变剪接产生多种转录变异体。[由RefSeq,2009年6月提供]
Related ID:
NCBI:5794
ENSEMBL:ENSG00000080031
HGNC:9672
UNIPROT:Q9HD43
OMIM:602510
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5794
25
20
28255 bp
122.35
54
--
4
9
PTPRH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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Transcript
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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