rs182139615

This is a intron variant variant in the SHANK2 gene.

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GWAS Catalog Trait Associations (1)

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

eosinophilic esophagitis

Chang X et al. “A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci.” The Journal of Allergy and Clinical Immunology 149(3):988-998 (2022)
Allele T
OR 6.62
p 1.0e-9
N 15,564
Meta-analysisLarge GWAS
European

About SHANK2

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

View all SHANK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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