GTF2IRD2 Chromosome 7
GTF2I repeat domain containing 2
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What This Gene Does
This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Zinc fingers BED-type
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000196275
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202076967 | Health Risk | Conflicting classifications of pathogenicity | — |