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中文人类
GTF2IRD1 - GTF2I Repeat Domain Containing 1
Alias:
BEN
WBS
GTF3
RBAP2
CREAM1
MUSTRD1
WBSCR11
WBSCR12
hMusTRD1alpha1
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这个基因编码的蛋白质包含五个GTF2I样重复序列，每个重复序列都具有一个潜在的螺旋-环-螺旋(HLH)基序。它可能具有与其他HLH蛋白质相互作用的能力，并作为Retinoblastoma蛋白控制的转录因子或正转录调节子发挥作用。这个基因在颅面部和认知发育中发挥作用，突变与Williams-Beuren综合症有关，这是一种由7q11.23处多个基因缺失引起的多系统发育紊乱。可变剪接导致多个转录变异体。[由RefSeq，2010年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GTF2IRD1 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
