RFXANK Chromosome 19
Regulatory factor X associated ankyrin containing protein
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What This Gene Does
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000064490
Associated Conditions (11)
MHC class II deficiency
RFXANK-related disorder
MHC class II deficiency 2
Uterine corpus endometrial carcinoma
Inborn genetic diseases
Inherited Immunodeficiency Diseases
MHC class II deficiency 1
MHC class II deficiency 3
Thyroid cancer
nonmedullary
1
Key Variants
RS114064359
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS115220304
Conflicting classifications of pathogenicity
MHC class II deficiency, RFXANK-related disorder, MHC class II deficiency
Health Risk
RS1196984337
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency 2, Uterine corpus endometrial carcinoma
Health Risk
RS138423094
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS145448880
Conflicting classifications of pathogenicity
MHC class II deficiency, Inborn genetic diseases, MHC class II deficiency
Health Risk
RS145457604
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS151053440
Conflicting classifications of pathogenicity
MHC class II deficiency, Inborn genetic diseases, MHC class II deficiency
Health Risk
RS201778172
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS559367724
Conflicting classifications of pathogenicity
MHC class II deficiency, Inborn genetic diseases, MHC class II deficiency
Health Risk
RS576657199
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS749579925
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS754519730
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114064359 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS115220304 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, RFXANK-related disorder, MHC class II deficiency |
| RS1196984337 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency 2, Uterine corpus endometrial carcinoma |
| RS138423094 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS145448880 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, Inborn genetic diseases, MHC class II deficiency |
| RS145457604 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS151053440 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, Inborn genetic diseases, MHC class II deficiency |
| RS201778172 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS559367724 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, Inborn genetic diseases, MHC class II deficiency |
| RS576657199 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS749579925 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS754519730 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS1568579235 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency 2, MHC class II deficiency |
| RS1568579997 | Health Risk | Likely pathogenic | MHC class II deficiency, RFXANK-related disorder, MHC class II deficiency 2 |
| RS1599784393 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2060634316 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2146483253 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2512813276 | Health Risk | Likely pathogenic | RFXANK-related disorder, RFXANK-related disorder |
| RS751386365 | Health Risk | Likely pathogenic | Inherited Immunodeficiency Diseases, MHC class II deficiency 2, Inherited Immunodeficiency Diseases |
| RS1568578781 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2060611603 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2146493181 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2146496053 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency, MHC class II deficiency |
| RS2512793715 | Health Risk | Pathogenic | MHC class II deficiency 2, MHC class II deficiency 2 |
| RS747402973 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 2, MHC class II deficiency |
| RS770387882 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS776752313 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 1, MHC class II deficiency 2 |
| RS104894709 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency 2, MHC class II deficiency 1 |
| RS1599784374 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2060720733 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2146492780 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS753338285 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency 2, MHC class II deficiency |
| RS759667201 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency 2, MHC class II deficiency 3 |
| RS778357787 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS779699696 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency 2, Thyroid cancer |
| RS869312922 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, MHC class II deficiency, Inborn genetic diseases |