rs11636232
This is a synonymous variant in the HERC2 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
eye color
hair color
skin pigmentation
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶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.AssociationN=200Eiberg H et al.(2008)· Human genetics
This study identified a founder mutation in HERC2 intron 86 (rs12913832) that is perfectly associated with blue eye color. Through linkage analysis of a large Danish family and association studies in 155 blue-eyed and 45 brown-eyed individuals, the researchers mapped the blue eye color locus to a 166 Kbp region and demonstrated that rs12913832 (G allele) and rs1129038 (A allele) are perfectly associated with blue eyes (P = 6.12e-46). Functional studies showed this regulatory element significantly reduces OCA2 promoter activity through differential binding of transcription factors.
About HERC2
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
View all HERC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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