The HERC2 gene is located on the long (q) arm of chromosome 15 at position 13.
Probable E3 ubiquitin-protein ligase HERC2 is an enzyme that in humans is encoded by the HERC2gene.[5][6]
A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.[7][8][9]
The HERC2 gene's derived rs916977 allele is most common in Europe; particularly in the north and east, where it nears fixation. The variant is also found at high frequencies in North Africa, the Near East, Oceania and the Americas.[10]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Ji Y, Walkowicz MJ, Buiting K, Johnson DK, Tarvin RE, Rinchik EM, Horsthemke B, Stubbs L, Nicholls RD (May 1999). "The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities". Hum Mol Genet. 8 (3): 533–42. doi:10.1093/hmg/8.3.533. PMID9949213.
^Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L (March 2008). "Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression". Human Genetics. 123 (2): 177–87. doi:10.1007/s00439-007-0460-x. PMID18172690.
