GTF2IRD1 (GTF2I repeat domain containing 1)

2017-10-01  

Identity

HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1
FUSION GENES

Other Information

Locus ID:

NCBI: 9569
MIM: 604318
HGNC: 4661
Ensembl: ENSG00000006704

Variants:

dbSNP: 9569
ClinVar: 9569
TCGA: ENSG00000006704
COSMIC: GTF2IRD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006704ENST00000265755Q9UHL9
ENSG00000006704ENST00000424337Q9UHL9
ENSG00000006704ENST00000455841Q9UHL9
ENSG00000006704ENST00000470715H7C4Q8
ENSG00000006704ENST00000476977E9PFE2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Basal transcription factorsKEGGhsa03022
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
162937612005GTF2IRD1 in craniofacial development of humans and mice.84
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
128657602003Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.44
192050262009Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.44
198974632010Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.41
128577482003hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer.16
159417132005Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1.14
221985722012Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.13
226087122012The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.12
200073212010Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.11

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