RFX5 Chromosome 1
Regulatory factor X5
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What This Gene Does
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Regulatory factor X family
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143390
Associated Conditions (5)
MHC class II deficiency
MHC class II deficiency 1
RFX5-related disorder
MHC class II deficiency 3
MHC class II deficiency 5
Key Variants
RS141889707
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS144353639
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS146341254
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS1464766994
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS147137349
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS147579805
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS2233846
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency 1, MHC class II deficiency
Health Risk
RS371115213
Conflicting classifications of pathogenicity
MHC class II deficiency, RFX5-related disorder, MHC class II deficiency
Health Risk
RS371670135
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS377295214
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS772352167
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS1183832067
Likely pathogenic
MHC class II deficiency, MHC class II deficiency
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141889707 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS144353639 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS146341254 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS1464766994 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS147137349 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS147579805 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS2233846 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency 1, MHC class II deficiency |
| RS371115213 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, RFX5-related disorder, MHC class II deficiency |
| RS371670135 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS377295214 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS772352167 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS1183832067 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1235319638 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1571256140 | Health Risk | Likely pathogenic | MHC class II deficiency 3, MHC class II deficiency 3 |
| RS1571260171 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1650653829 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2102065180 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2529027871 | Health Risk | Likely pathogenic | — |
| RS2529047720 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2529048000 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS367771361 | Health Risk | Likely pathogenic | MHC class II deficiency, RFX5-related disorder, MHC class II deficiency |
| RS763938154 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS922151130 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1228361094 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1233130743 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 3, MHC class II deficiency |
| RS1426299431 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1489967497 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1557832711 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1571260017 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1571262081 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1650858382 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2102068023 | Health Risk | Pathogenic | MHC class II deficiency 3, MHC class II deficiency, MHC class II deficiency 3 |
| RS2529017348 | Health Risk | Pathogenic | MHC class II deficiency 3, MHC class II deficiency 3 |
| RS2529019322 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2529019649 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2529020120 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2529024443 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2529028222 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2529040595 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS368167684 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS556806561 | Health Risk | Pathogenic | MHC class II deficiency 3, MHC class II deficiency 3 |
| RS748270285 | Health Risk | Pathogenic | MHC class II deficiency 3, MHC class II deficiency 3 |
| RS757464167 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS758904746 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 3, MHC class II deficiency 5 |
| RS779214753 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS79106593 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS992795118 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1196551559 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency 5, MHC class II deficiency 3 |
| RS1363575527 | Health Risk | Pathogenic/Likely pathogenic | RFX5-related disorder, MHC class II deficiency, RFX5-related disorder |
| RS775183383 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency |