RORC Chromosome 1
RAR related orphan receptor C
Upload your DNA to see your personal genotypes for variants in RORC.
What This Gene Does
The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RAR related orphan receptors
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143365
Associated Conditions (3)
Inborn genetic diseases
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RORC-related disorder
Key Variants
RS1042295993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases
Health Risk
RS17582155
Conflicting classifications of pathogenicity
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, RORC-related disorder, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS200303989
Conflicting classifications of pathogenicity
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS201691098
Conflicting classifications of pathogenicity
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS1558164428
Likely pathogenic
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS2101656625
Likely pathogenic
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS1651702189
Pathogenic
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS2525630257
Pathogenic
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS774357869
Pathogenic
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS863225091
Pathogenic
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
RS863225092
Pathogenic
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1042295993 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases |
| RS17582155 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, RORC-related disorder, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS200303989 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS201691098 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS1558164428 | Health Risk | Likely pathogenic | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS2101656625 | Health Risk | Likely pathogenic | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS1651702189 | Health Risk | Pathogenic | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS2525630257 | Health Risk | Pathogenic | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS774357869 | Health Risk | Pathogenic | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS863225091 | Health Risk | Pathogenic | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| RS863225092 | Health Risk | Pathogenic | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |