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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
PTPRQ - Protein Tyrosine Phosphatase Receptor Type Q
Alias:
DFNA73
DFNB84
DFNB84A
PTPGMC1
R-PTP-Q
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因座编码III型受体样蛋白酪氨酸磷酸酶家族的一员。编码的蛋白质催化磷酸酪氨酸和磷脂酰肌醇的去磷酸化作用,并在细胞增殖和分化中发挥作用。这个基因座的突变与常染色体隐性耳聋有关。[RefSeq,2014年3月提供]
Related ID:
NCBI:374462
ENSEMBL:ENSG00000139304
HGNC:9679
UNIPROT:Q9UMZ3
OMIM:603317
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
374462
1
45
236039 bp
Unknown
398
5
6
1
PTPRQ Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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