rs260643

This is a regulatory region variant variant in the RANBP2 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

coat/hair morphology trait

Endo C et al. “Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.” Scientific Reports 8(1):8974 (2018)

Allele A

OR 3.33

p 2.0e-103

N 4,878

Large GWAS

East Asian

acne

Mitchell BL et al. “Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.” Nature Communications 13(1):702 (2022)

Allele A

OR 1.15

p 3.0e-12

N 615,396

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About RANBP2

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008]