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: 84163
MIM: 608899
HGNC: 30775
Ensembl: ENSG00000196275
Variants:
dbSNP: 84163
ClinVar: 84163
TCGA: ENSG00000196275
COSMIC: GTF2IRD2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196275 | ENST00000451013 | Q86UP8 |
| ENSG00000196275 | ENST00000614386 | Q86UP8 |
| ENSG00000196275 | ENST00000625377 | A0A0D9SF80 |
| ENSG00000196275 | ENST00000651129 | A0A494C0I1 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30375319 | 2018 | Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2. | 0 |
| 30375319 | 2018 | Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2. | 0 |
| 23118870 | 2012 | A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. | 16 |
| 23118870 | 2012 | A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. | 16 |
| 15100712 | 2004 | Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. | 23 |
| 15243160 | 2004 | GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. | 8 |
| 15388857 | 2004 | Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. | 19 |
| 15100712 | 2004 | Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. | 23 |
| 15243160 | 2004 | GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. | 8 |
| 15388857 | 2004 | Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. | 19 |
Citation
Dessen P
GTF2IRD2 (GTF2I repeat domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64091/gtf2ird2-(gtf2i-repeat-domain-containing-2)
