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Article

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.

Genome research - 1 Mar 2012

Visser Mijke, Kayser Manfred, Palstra Robert-Jan

Abstract excerpt

Pigmentation of skin, eye, and hair reflects some of the most evident common phenotypes in humans. Several candidate genes for human pigmentation are identified. The SNP rs12913832 has strong statistical association with human pigmentation. It is located within an intron of the nonpigment gene HERC2, 21 kb upstream of the pigment gene OCA2, and the region surrounding rs12913832 is highly conserved among animal...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatin

Share to Enhancer Elements, Genetic

Share to Guanine Nucleotide Exchange Factors

Share to Melanocytes

Share to Membrane Transport Proteins

Share to Organ Specificity

Share to Pigmentation

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 22234890
DOI: 10.1101/gr.128652.111
PMCID: PMC3290780

Genes

OCA2
HERC2
HLTF
MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.PMID 22234890Read ↗

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