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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
SOX2 - SRY-box Transcription Factor 2
Alias:
ANOP3
MCOPS3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个无内含子的基因编码SRY相关HMG盒(SOX)家族的一员,该家族参与胚胎发育的调节和细胞命运的确定。该基因的产物是中枢神经系统中干细胞维持所必需的,并调节胃中的基因表达。该基因的突变与视神经发育不良和综合征性小眼症有关,这是一种严重的眼部结构畸形。该基因位于另一个名为SOX2重叠转录(SOX2OT)的基因的内含子里。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6657
ENSEMBL:ENSG00000181449
HGNC:11195
UNIPROT:P48431
OMIM:184429
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6657
1
1
2512 bp
34.31
171
6
32
12
SOX2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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