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Tbio
GTF2IRD1
General transcription factor II-I repeat domain-containing protein 1

Protein Summary
Description
May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity). The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000265755
  • ENSP00000265755
  • ENSG00000006704
  • ENST00000424337
  • ENSP00000408477
  • ENST00000455841
  • ENSP00000397566

Symbol
  • CREAM1
  • GTF3
  • MUSTRD1
  • RBAP2
  • WBSCR11
  • WBSCR12
  • BEN
  • WBS
  • GTF3
  • RBAP2
  • CREAM1
  • MUSTRD1
  • WBSCR11
  • WBSCR12
  • hMusTRD1alpha1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.99
disease perturbation
0.87
protein complex
0.78
histone modification site profile
0.76
transcription factor
0.72


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 76.83   (req: < 5)
Gene RIFs: 19   (req: <= 3)
Antibodies: 347   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 76.83   (req: >= 5)
Gene RIFs: 19   (req: > 3)
Antibodies: 347   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (85)
GTF2IRD2B
Tbio
Family:  TF
Novelty:  0.14868633
p_int:  0.999992706
p_ni:  0.000007294
p_wrong:  1e-9
Score:  0.62
Data Source:  BioPlex,STRINGDB
WASF3
Tbio
Novelty:  0.0248378
p_int:  0.998761347
p_ni:  0.001238628
p_wrong:  2.5e-8
Score:  0.181
Data Source:  BioPlex,STRINGDB
ZIK1
Tbio
Family:  TF
Novelty:  0.20771106
p_int:  0.997270013
p_ni:  0.002729624
p_wrong:  3.63e-7
Data Source:  BioPlex
ZNF23
Tbio
Family:  TF
Novelty:  0.33673708
p_int:  0.997057737
p_ni:  0.002938692
p_wrong:  0.000003571
Data Source:  BioPlex
LRRIQ1
Tdark
Novelty:  1.8251367
p_int:  0.995652245
p_ni:  0.004342718
p_wrong:  0.000005037
Data Source:  BioPlex
PPP2R2D
Tbio
Family:  Enzyme
Novelty:  0.0658328
p_int:  0.993322026
p_ni:  0.006677216
p_wrong:  7.58e-7
Data Source:  BioPlex
NOLC1
Tbio
Novelty:  0.01922261
p_int:  0.993197556
p_ni:  0.006801033
p_wrong:  0.000001411
Score:  0.19
Data Source:  BioPlex,STRINGDB
MAGEA10
Tbio
Novelty:  0.05364393
p_int:  0.990642335
p_ni:  0.009356027
p_wrong:  0.000001637
Score:  0.181
Data Source:  BioPlex,STRINGDB
KIFAP3
Tbio
Novelty:  0.01902437
p_int:  0.972914117
p_ni:  0.027075119
p_wrong:  0.000010764
Score:  0.175
Data Source:  BioPlex,STRINGDB
AKNAD1
Tdark
Novelty:  1.91673921
p_int:  0.95053008
p_ni:  0.049459857
p_wrong:  0.000010062
Score:  0.269
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (16)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
3
2
0
1.4
93.4
C-reactive protein measurement
3
2
3
70.3
influenza A (H1N1)
1
1
0
37.4
70.1
age at menarche
1
1
1
67.4
heel bone mineral density
1
1
1
50.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.4
93.4
C-reactive protein measurement
3
70.3
influenza A (H1N1)
0
37.4
70.1
age at menarche
1
67.4
heel bone mineral density
1
50.2
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
GTF2I repeat domain containing 1
VGNC:8726
463471
Macaque
GTF2I repeat domain containing 1
693935
Mouse
MGI:1861942
57080
Rat
RGD:620856
246770
Rat
RGD:6488068
100912262
Species
Name
OMA
EggNOG
Inparanoid
Chimp
GTF2I repeat domain containing 1
Macaque
GTF2I repeat domain containing 1
Mouse
Rat
Rat
Publication Statistics
PubMed Score 76.83
PubMed score by year
PubTator Score 272.48
PubTator score by year
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Related Publications
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PMID
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