rs45580033

This is a protein-altering variant in the ASB2 gene.

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GWAS Catalog Trait Associations (1)

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

spina bifida

Tindula G et al. “Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.” Birth Defects Research 116(3):e2331 (2024)
Allele A
OR —
p 4.0e-10
N 128
Small GWAS
South Asian

About ASB2

This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

View all ASB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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