RFX3 Chromosome 9
Regulatory factor X3
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What This Gene Does
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. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Regulatory factor X family
Locus Type
gene with protein product
Location
9p24.2
Ensembl
ENSG00000080298
Associated Conditions (5)
RFX3-related disorder
Inborn genetic diseases
Neurodevelopmental disorder
Developmental disorder
RFX3-associated neurodevelopmental disorder
Key Variants
RS371245427
Conflicting classifications of pathogenicity
RFX3-related disorder, RFX3-related disorder
Health Risk
RS781382810
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2131116061
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2489274630
Likely pathogenic
Developmental disorder, Developmental disorder
Health Risk
RS2489677535
Likely pathogenic
Health Risk
RS2489684511
Likely pathogenic
RFX3-related disorder, RFX3-related disorder
Health Risk
RS758554896
Likely pathogenic
Health Risk
RS2489070185
Pathogenic
RFX3-associated neurodevelopmental disorder, RFX3-associated neurodevelopmental disorder
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371245427 | Health Risk | Conflicting classifications of pathogenicity | RFX3-related disorder, RFX3-related disorder |
| RS781382810 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2131116061 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2489274630 | Health Risk | Likely pathogenic | Developmental disorder, Developmental disorder |
| RS2489677535 | Health Risk | Likely pathogenic | — |
| RS2489684511 | Health Risk | Likely pathogenic | RFX3-related disorder, RFX3-related disorder |
| RS758554896 | Health Risk | Likely pathogenic | — |
| RS2489070185 | Health Risk | Pathogenic | RFX3-associated neurodevelopmental disorder, RFX3-associated neurodevelopmental disorder |