GTF2IRD2 (GTF2I repeat domain containing 2)

Certainty Style Key

Certainty styling is being phased out topic by topic.

Hover over keys for definitions:
True   Likely   Speculative
Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
MOCA Topic Authors: 

GTF2I repeat domain containing 2 (GTF2IRD2) is a transcription factor that may be involved in the development of facial features and tooth formation. Copies of this gene cluster to the Williams-Beuren syndrome region at 7q11.23 and have been hypothesized to play a role in the etiology of the disorder. There are approximately 4-5 more copies of GTF2IRD2 in the human genome than in other primates but this significance of these copies is unknown.


Timing of appearance of the difference in the Hominin Lineage as a defined date or a lineage separation event. The point in time associated with lineage separation events may change in the future as the scientific community agrees upon better time estimates. Lineage separation events are defined in 2017 as:

  • the Last Common Ancestor (LCA) of humans and old world monkeys was 25,000 - 30,000 thousand (25 - 30 million) years ago
  • the Last Common Ancestor (LCA) of humans and chimpanzees was 6,000 - 8,000 thousand (6 - 8 million) years ago
  • the emergence of the genus Homo was 2,000 thousand (2 million) years ago
  • the Last Common Ancestor (LCA) of humans and neanderthals was 500 thousand years ago
  • the common ancestor of modern humans was 100 - 300 thousand years ago

Probable Appearance: 
2,000 thousand years ago
Definite Appearance: 
6,000 thousand years ago
Genetics Topic Attributes
Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
GTF2IRD2 Copy Number Changes


  1. Diversity of human copy number variation and multicopy genes., Sudmant, Peter H., Kitzman Jacob O., Antonacci Francesca, Alkan Can, Malig Maika, Tsalenko Anya, Sampas Nick, Bruhn Laurakay, Shendure Jay, and Eichler Evan E. , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
  2. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy., Arkblad, Eva, Tulinius Már, Kroksmark Anna-Karin, Henricsson Mirja, and Darin Niklas , Acta Paediatr, 05/2009, Volume 98, Issue 5, p.865-72, (2009)
  3. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome., Ohazama, A., and Sharpe P. T. , Dev Dyn, 2007 Oct, Volume 236, Issue 10, p.2884-8, (2007)
  4. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome., Tipney, Hannah J., Hinsley Timothy A., Brass Andrew, Metcalfe Kay, Donnai Dian, and Tassabehji May , Eur J Hum Genet, 07/2004, Volume 12, Issue 7, p.551-60, (2004)
  5. Lineage-specific gene duplication and loss in human and great ape evolution., Fortna, A., Kim Y., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., et al. , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)