rs11021504

This variant is located in the MAML2 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Yongchen Hao et al. “Genome-wide association study in Han Chinese identifies three novel loci for human height” Human Genetics (2013)
Allele A
OR 0.08
p 8.0e-9
N 6,534
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Genome-wide association study in Han Chinese identifies three novel loci for human height
Meta-analysisN=8,415Yongchen Hao et al.(2013)· Human Genetics

A meta-analysis of genome-wide association studies in 6,534 Han Chinese subjects identified three novel loci for human height at rs12612930 (ZNF638), rs11021504 (MAML2), and rs11082671 (C18orf12) reaching genome-wide significance (P < 5 × 10⁻⁸), along with confirmation of two previously reported loci (CS and CYP19A1). The study provided supporting evidence for 35 SNPs from previous GWAS and demonstrates substantial genetic overlap between Asian and European populations for this complex trait.

Traits studied:Human height
PubMedDOIMetascience Observatory

About MAML2

The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]

View all MAML2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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