Log In|Sign Up
中文人类
GTF2IRD2 - GTF2I Repeat Domain Containing 2
Alias:
FP630
GTF2IRD2A
GTF2IRD2 alpha
Favorite
这个基因是染色体7上几个密切相关的基因之一，编码含有螺旋-环-螺旋基序的蛋白质。这些蛋白质可能作为转录调节因子发挥作用。编码的蛋白质的独特之处在于其C端来自CHARLIE8可移动元素序列。这个基因位于威廉斯-贝伦综合征中缺失的染色体7的一个区域，这个位点的丢失可能有助于解释这种疾病中观察到的认知表型。可变剪接导致多个转录变异体。[由RefSeq，2013年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GTF2IRD2 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
