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中文人类
NKX2-1 - NK2 Homeobox 1
Alias:
BCH
BHC
NK-2
TEBP
TTF1
NKX2A
NMTC1
T/EBP
TITF1
TTF-1
NKX2.1
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这个基因编码一种最初被鉴定为甲状腺特异性的转录因子。编码的蛋白质结合到甲状腺球蛋白启动子并调节甲状腺特异性的基因表达，但也被证明可以调节参与形态发生的相关基因的表达。这个基因的突变和缺失与良性遗传性舞蹈病、舞蹈手足徐动症、先天性甲状腺功能减退症和新生儿呼吸窘迫有关，可能与甲状腺癌有关。已经发现这个基因有多种转录变异体，编码不同的异构体。这个基因与另一个基因转录终止因子1共享符号/别名'TTF1'，后者在核糖体基因转录中起作用。[由RefSeq，2014年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NKX2-1 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
