rs464138

This is a regulatory region variant variant in the MX1 gene.

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GWAS Catalog Trait Associations (2)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.45

p 2.0e-267

N 10,708

Large GWAS

European

immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)

Allele C

OR 0.55

p 8.0e-9

N 200

Small GWAS

European

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Research that mentions this SNP (1)

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MxA transcripts with distinct first exons and modulation of gene expression levels by single-nucleotide polymorphisms in human bronchial epithelial cells

FunctionalN=38Satoshi Noguchi et al.(2013)· Immunogenetics

This functional study investigated MxA transcript expression patterns in human bronchial epithelial cells and identified regulatory effects of promoter and exon 1 SNPs (rs17000900, rs2071430, rs464138) on MxA expression. The study characterized two MxA transcript variants (T1 and T0) with distinct first exons, finding that T1 accounted for approximately two-thirds of total MxA expression at baseline and showed 100-fold higher induction by interferons. Baseline expression of the T1 transcript was significantly associated with alleles of -123 C/A (rs17000900), -88 G/T (rs2071430), and +20 C/A (rs464138) SNPs, with +20 C/A remaining independently associated in multiple regression analysis (p=0.016).

Traits studied:Interferon responseMxA expressionRespiratory viral infections

PubMed DOI Metascience Observatory

About MX1

This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]