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中文人类
SHOX2 - SHOX Homeobox 2
Alias:
OG12
SHOT
OG12X
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这个基因是homeobox家族基因的一员，编码含有代表DNA结合结构域的60个氨基酸残基模式蛋白。homeobox基因已被广泛表征为参与无脊椎动物和脊椎动物物种模式形成的转录调节因子。几种人类遗传病是由人类homeobox基因的异常引起的。这个基因座代表一个被认为负责特发性矮小症的伪常染色体同源homeobox基因，它与Turner综合征患者的矮小表型有关。这个基因被认为是Cornelia de Lange综合征的候选基因。可变剪接导致多个转录变异体。[由RefSeq，2009年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SHOX2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
