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中文人类
RUNX2 - RUNX Family Transcription Factor 2
Alias:
CCD
AML3
CCD1
CLCD
OSF2
CBFA1
OSF-2
PEA2aA
PEBP2aA
CBF-alpha-1
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这个基因是转录因子RUNX家族的成员，编码具有Runt DNA结合结构的核蛋白。这种蛋白对成骨细胞分化和骨骼形态发生是必需的，并作为涉及骨骼基因表达的核酸和调控因子的支架。该蛋白可以作为单体或与异源二聚物复合物的亚单位与DNA结合，具有更高的亲和力。编码蛋白的N端区域存在两个潜在的三核苷酸重复扩张区域，这些区域以及该基因中的其他突变与骨骼发育异常颅骨骨发育异常（CCD）有关。通过使用替代启动子和替代剪接，产生编码不同蛋白质异型的转录变异体。[由RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RUNX2 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
