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GTF2IRD2 (GTF2I repeat domain containing 2)

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Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

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.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
GTF2IRD2 (GTF2IRD2: GTF2I repeat domain containing 2)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
Timing

Timing of Appearance of the Difference in the Hominin Lineage.

For this entry assume that

  • the common ancestor of humans and old world monkeys was 25000 thousand (25 million) years ago
  • the common ancestor of humans and chimpanzees was 6000 thousand (6 million) years ago
  • the emergence of the genus Homo was 2000 thousand (2 million) years ago
  • the common ancestor of modern humans was 100 thousand years ago

 

Probable Appearance: 
2000 Thousand Years
Definite Appearance: 
6000 Thousand Years
References: 

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID:21030649

 

 Arkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N. (2009) A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 98(5):865-72. PMID: 19154529


Ohazama A, Sharpe PT. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. Dev Dyn. 2007 Oct;236(10):2884-8.

 

Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. (2004) Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol 2(7):E207. PMID: 15252450

 

Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, Tassabehji M. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. Eur J Hum Genet. 2004 Jul;12(7):551-60. PMID: 15100712
 

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