rs11809423

This variant is located in the HIVEP3 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not specified; not provided; HIVEP3-related disorder

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Research that mentions this SNP (1)

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Genetic variation contributes to gene expression response in ischemic stroke: an eQTL study
AssociationN=275Hajar Amini et al.(2020)· Annals of Clinical and Translational Neurology

This eQTL study examined 137 ischemic stroke patients and 138 controls to identify SNP-gene associations affecting blood gene expression. The analysis identified 4 significant cis-eQTLs and 70 trans-eQTLs with genotype-diagnosis interactions. Key findings include rs56348411 (NRGN, p=2.10×10⁻⁸), rs78046578 (CXCL10), rs975903 (SMAD4), and rs62299879 (CD38) affecting inflammatory response genes, plus rs148791848 as a strong trans-eQTL for ANOS1 involved in neural cell adhesion.

Traits studied:Axonal migrationGene expression response to ischemic strokeInflammatory response to strokeIschemic strokeNeural cell adhesion
PubMedDOIMetascience Observatory

About HIVEP3

This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]

View all HIVEP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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