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HERC2, previously referred to as the rjs gene locus, was first identified in 1990 as the gene responsible for two phenotypes in mice: the runty, jerky, sterile (rjs) phenotype and the juvenile development and fertility-2 (Jdf2) phenotype.
OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. In human, the OCA2 gene is located on the long (q) arm of chromosome 15 between positions 12 and 13.1. The human OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15.
The polymorphisms may be in an OCA2 regulatory sequence, where they may influence the expression of the gene product, which in turn affects pigmentation. [13] A specific mutation within the HERC2 gene, a gene that regulates OCA2 expression, is partly responsible for blue eyes. [9] Other genes implicated in eye color variation are SLC24A4 [22 ...
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In genetics, a locus (pl.: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. [1] Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at ...
HER2 is colocalised and most of the time, coamplified with the gene GRB7, which is a proto-oncogene associated with breast, testicular germ cell, gastric, and esophageal tumours. HER2 proteins have been shown to form clusters in cell membranes that may play a role in tumorigenesis. [26] [27]