HERC2

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HECT and RLD domain containing E3 ubiquitin protein ligase 2
Protein HERC2 PDB 2KEO.png
Rendering based on PDB 2KEO.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HERC2 ; D15F37S1; MRT38; SHEP1; jdf2; p528
External IDs OMIM605837 MGI103234 HomoloGene3430 GeneCards: HERC2 Gene
RNA expression pattern
PBB GE HERC2 217902 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8924 15204
Ensembl ENSG00000128731 ENSMUSG00000030451
UniProt O95714 Q4U2R1
RefSeq (mRNA) NM_004667 NM_010418
RefSeq (protein) NP_004658 NP_034548
Location (UCSC) Chr 15:
28.36 – 28.57 Mb
Chr 7:
56.05 – 56.23 Mb
PubMed search [1] [2]

Probable E3 ubiquitin-protein ligase HERC2 is an enzyme that in humans is encoded by the HERC2 gene.[1][2]

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.[3][4][5]


References[edit]

  1. ^ 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. PMID 9949213. 
  2. ^ "Entrez Gene: HERC2 hect domain and RLD 2". 
  3. ^ 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. 
  4. ^ 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. PMID 18172690. 
  5. ^ 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. doi:10.1016/j.ajhg.2007.11.005. PMC 2427173. PMID 18252222. 

Further reading[edit]