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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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人类
CSRNP2 - Cysteine And Serine Rich Nuclear Protein 2
Alias:
C12orf2
PPP1R72
TAIP-12
C12orf22
FAM130A1
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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属于核蛋白CSRNP家族,具有保守区域,包括富含半胱氨酸和丝氨酸的区域,一个碱性结构域,一个转录激活结构域,并结合序列'AGAGTG',因此具有转录因子的特征。研究表明,这些基因在小鼠中可能具有冗余功能。已发现这个基因的替代剪接转录变异体。[RefSeq,2011年8月提供]
Related ID:
NCBI:81566
ENSEMBL:ENSG00000110925
HGNC:16006
UNIPROT:Q9H175
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
81566
13
5
22392 bp
59.59
26
--
3
2
CSRNP2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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