Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.

Pigment cell & melanoma research - 1 Mar 2014

Visser Mijke, Kayser Manfred, Grosveld Frank, Palstra Robert-Jan

Abstract excerpt

Mutations within the OCA2 gene or the complete absence of the OCA2 protein leads to oculocutaneous albinism type 2. The OCA2 protein plays a central role in melanosome biogenesis, and it is a strong determinant of the eumelanin content in melanocytes. Transcript levels of the OCA2 gene are strongly correlated with pigmentation intensities. Recent studies demonstrated that the transcriptional level of OCA2 is to a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gene Expression Regulation
Share to OCA2 gene
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to Pigmentation

Share to Regulatory Sequences, Nucleic Acid

Share to Transcription, Genetic

Source

Identifiers

PMID: 24387780
DOI: 10.1111/pcmr.12210

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.PMID 24387780Read ↗

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

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Semantic proximity Read ↗

The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates.Semantic proximity Read ↗

The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.Semantic proximity Read ↗

In silico analysis of miRNA-mediated gene regulation in OCA and OA genes.Semantic proximity Read ↗

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.Semantic proximity Read ↗

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Semantic proximity Read ↗

Regulation of the human tyrosinase gene in retinal pigment epithelium cells: the significance of transcription factor orthodenticle homeobox 2 and its polymorphic binding site.Semantic proximity Read ↗

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.Semantic proximity Read ↗

Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene.Semantic proximity Read ↗

The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.Semantic proximity Read ↗

Characterization of OCA2 cDNA in different porcine breeds and analysis of its potential effect on skin pigmentation in a red Iberian strain.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.