GTF2I
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GTF2I (HGNC:4659) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
general transcription factor IIi
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
WBSCR6
Alias symbols
TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291
%HI
33.5(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.2(Read more about gnomAD LOEUF score)
Cytoband
7q11.23
Genomic Coordinates
GRCh37/hg19: chr7:74072044-74175022 NCBI Ensembl UCSC
GRCh38/hg38: chr7:74657718-74760692 NCBI Ensembl UCSC
MANE Select Transcript
NM_032999.4 ENST00000573035.6 (Read more about MANE Select)
Function
Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1640
ClinGen Curation ID:
CCID:007261
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/08/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
While haploinsufficiency for GTF2I alone has not been demonstrated, deletions involving the larger 7q11.23 region cause the contiguous gene deletion disorder, Williams-Beuren syndrome (WBS) (MIM #194050). Genotype-phenotype correlation studies of patients with atypical 7q11.23 deletions and studies of mouse models have suggested an association between GTF2I and neurocognitive and behavioral aspects of WBS [see PMIDs 19897463 and 21328569 for recent reviews of the literature].

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
GTF2I is variably duplicated in the chromosome 7q11.23 microduplication syndrome (MIM #609757), however more often, the distal duplication breakpoint overlaps this gene. Focal GTF2I duplication has not been reported. GTF2I SNP association studies and studies of mouse models suggest increased GTF2I dosage may contribute to autistic and separation anxiety phenotypes, respectively, observed in this syndrome [see PMIDs 22048961 and 22578324].

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)