GTF2H2 (General transcription factor IIH, polypeptide 2, 44kDa)

Certainty Style Key

Certainty styling is being phased out topic by topic.

Hover over keys for definitions:
True   Likely   Speculative
What is MOCA?
MOCA FAQ...
Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

General transcription factor IIH, polypeptide 2 (GT2H2) is involved in basal transcription and nucleotide excision repair. GT2H2 copies are found within a 500kb 15q13 inverted duplication region that is highly prone to rearrangements and deletions. Humans have on average 1-5 more copies of the gene than other primates, although the implications for these copies are not understood.

Timing

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
GTF2H2 Copy Number Changes

References

  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. 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)
  4. Transcription of eukaryotic protein-coding genes., Lee, T I., and Young R A. , Annu Rev Genet, Volume 34, p.77-137, (2000)

© CARTA · All rights reserved.   Terms of Use · Privacy Policy · Site Map · Site Credits · Related Links · FAQ · Contact Us

UC San DiegoSalk