HERC2

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LOC107987422
Protein HERC2 PDB 2KEO.png
Identifiers
Aliases D15F37S1MRT38SHEP1jdf2p528HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2uncharacterized LOC107987422
External IDs MGI: 103234 GeneCards: [1]
RNA expression pattern
PBB GE HERC2 217902 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

NM_010418

RefSeq (protein)

n/a

NP_034548

Location (UCSC) n/a Chr 7: 56.05 – 56.23 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
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 HERC2 gene.[3][4]

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.[5][6][7]

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.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. PMID 9949213. doi:10.1093/hmg/8.3.533. 
  4. ^ "Entrez Gene: HERC2 hect domain and RLD 2". 
  5. ^ Bryner J (2008-01-31). "Here's what made those brown eyes blue". Health News. MSNBC. Retrieved 2008-11-06. ; Bryner J (2008-01-31). "One Common Ancestor Behind Blue Eyes". LiveScience. Imaginova Corp. Retrieved 2008-11-06. ; "Blue-eyed humans have a single, common ancestor". News. University of Copenhagen. 2008-01-30. Retrieved 2008-11-06. 
  6. ^ 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. PMID 18172690. doi:10.1007/s00439-007-0460-x. 
  7. ^ Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW (February 2008). "A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color". American Journal of Human Genetics. 82 (2): 424–31. PMC 2427173Freely accessible. PMID 18252222. doi:10.1016/j.ajhg.2007.11.005. 
  8. ^ "Allele Frequency For Polymorphic Site: rs916977". ALFRED. Retrieved 22 June 2016. 

Further reading[edit]