Gene: RFX3

Alternate names for this Gene: -

Gene Summary: This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.2

Description of this Gene: regulatory factor X3

Type of Gene: protein-coding

rs17658908 in RFX3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs116975424 in RFX3 gene and Body Weight PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs116975424 in RFX3 gene and Body mass index PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs17658908 in RFX3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7855172 in RFX3 gene and Sleep Initiation and Maintenance Disorders PMID 29520036 2018 Genome-wide analysis of insomnia disorder.

rs10758299 in RFX3 gene and Uveal melanoma PMID 31626034 2020 Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.