Search by BoMiProt ID - Bomi5976


Primary Information

BoMiProt ID Bomi5976
Protein Name General transcription factor II-I repeat domain-containing protein 2/GTF2IRD2/Transcription factor GTF2IRD2
Organism Bos taurus
Uniprot IdA4IFA3
Milk FractionWhey
Ref Sequence Id NP_001077214.1
Aminoacid Length 950
Molecular Weight 107016
Fasta Sequence https://www.uniprot.org/uniprot/A4IFA3.fasta
Gene Name GTF2IRD2
Gene Id 539745
Protein Existence Status reviewed

Secondary Information

Protein Function The GTF gene family of transcription factors (GTF2I, GTF2IRD1 and GTF2IRD2) are all highly expressed in the brain, and GTF2I and GTF2IRD1 are involved in the pathogenesis of the cognitive and behavioural phenotypes associated with Williams-Beuren syndrome (WBS) .
Biochemical Properties . The GTF2I family of transcription factors are thought to be important for both craniofacial and neurological development and since GTF2IRD2 has a high degree of structural similarity to GTF2I, it may also play a role in cognition and behaviour.
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
NA
Predicted Disorder Regions 9-12, 89-98, 189-302
DisProt Annotation
TM Helix Prediction No TM helices
Bibliography 1.Porter MA, Dobson-Stone C, Kwok JB, Schofield PR, Beckett W, Tassabehji M. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. PLoS One. 2012;7(10):e47457. doi: 10.1371/journal.pone.0047457. Epub 2012 Oct 31. PMID: 23118870; PMCID: PMC3485271. 2. Enkhmandakh B, Makeyev AV, Erdenechimeg L, Ruddle FH, Chimge NO, et al. (2009) Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci USA 106:181–6. 3. Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, et al. (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. Eur J Hum Genet 12: 551–60.