Identity
HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9569
MIM: 604318
HGNC: 4661
Ensembl: ENSG00000006704
Variants:
dbSNP: 9569
ClinVar: 9569
TCGA: ENSG00000006704
COSMIC: GTF2IRD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31758608 | 2020 | GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor-suppressor gene TGFβR2 in colorectal cancer. | 13 |
| 32936232 | 2020 | GTF2IRD1 overexpression promotes tumor progression and correlates with less CD8+ T cells infiltration in pancreatic cancer. | 6 |
| 31758608 | 2020 | GTF2IRD1 on chromosome 7 is a novel oncogene regulating the tumor-suppressor gene TGFβR2 in colorectal cancer. | 13 |
| 32936232 | 2020 | GTF2IRD1 overexpression promotes tumor progression and correlates with less CD8+ T cells infiltration in pancreatic cancer. | 6 |
| 29884845 | 2018 | Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes. | 4 |
| 29884845 | 2018 | Williams Syndrome neuroanatomical score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes. | 4 |
| 27239038 | 2016 | An In Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter. | 7 |
| 27239038 | 2016 | An In Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter. | 7 |
| 26275350 | 2015 | The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation. | 11 |
| 26320362 | 2015 | Association of GTF2I and GTF2IRD1 polymorphisms with systemic lupus erythematosus in a Chinese Han population. | 6 |
| 26275350 | 2015 | The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation. | 11 |
| 26320362 | 2015 | Association of GTF2I and GTF2IRD1 polymorphisms with systemic lupus erythematosus in a Chinese Han population. | 6 |
| 22198572 | 2012 | Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations. | 17 |
| 22608712 | 2012 | The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. | 16 |
| 23145142 | 2012 | SUMOylation of GTF2IRD1 regulates protein partner interactions and ubiquitin-mediated degradation. | 5 |
Citation
Dessen P
GTF2IRD1 (GTF2I repeat domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/gene/57090/gtf2ird1-(gtf2i-repeat-domain-containing-1)
