GTF2IRD2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GTF2IRD2 |
| Official Name | GTF2I repeat domain containing 2 [Source:HGNC Symbol;Acc:HGNC:30775] |
| Ensembl ID | ENSG00000196275 |
| Bio databases IDs | |
| Aliases | GTF2I repeat domain containing 2, transcription factor GTF2IRD2 |
| Synonyms | 1700012P16RIK, FP630, GTF2IRD2A, GTF2IRD2 alpha, GTF2IRD2 α, GTF2I repeat domain containing 2, LOC100133260, RGD1307435, RGD1566086 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GTF2IRD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tc5 transposase DNA-binding domain
- Domain of unknown function (DUF4371)
- protein binding
- CENP-B N-terminal DNA-binding domain
- GTF2I-like repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GTF2IRD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity