Gene

GTF2IRD2

Species
Homo sapiens
Symbol
GTF2IRD2
Name
GTF2I repeat domain containing 2
Synonyms
  • FLJ21423
  • FLJ37938
Biotype
protein coding gene
Automated Description
Predicted to enable DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within transition between fast and slow fiber. Predicted to be active in nucleus.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR47831
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
74.800M74.805M74.810M74.815M74.820M74.825M74.830M74.835M74.840M74.845M74.850M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions