IL12RB1 Chromosome 19
Interleukin 12 receptor subunit beta 1
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What This Gene Does
The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Interleukin receptors"
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000096996
Associated Conditions (8)
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1-related disorder
Melanoma
Inborn genetic diseases
Inherited Immunodeficiency Diseases
Lung cancer
Mycobacterium tuberculosis
susceptibility to
Key Variants
RS1212402265
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS138087003
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS140254802
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS144647048
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS145095951
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS145487261
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS150285174
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS17878522
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS182660189
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS185883069
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS199686420
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
RS200542111
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756272627 | Health Risk | Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1202592147 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS121434492 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS121434493 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS121434494 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS121434495 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1247491045 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1259129289 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1428057753 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1470879267 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1476855887 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS147766868 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inherited Immunodeficiency Diseases |
| RS1555782866 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1568515222 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1599555124 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2034195416 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2034359637 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2035855899 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2146200643 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2146215644 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2146259279 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2146310027 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2146389344 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2515003359 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2515045138 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2515355393 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS2515491207 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS372833507 | Health Risk | Pathogenic | IL12RB1-related disorder, IL12RB1-related disorder |
| RS373643598 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS554063682 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Lung cancer, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS564884307 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS576374797 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS748173451 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS754993079 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS762747908 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mycobacterium tuberculosis, susceptibility to |
| RS765825621 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS772340282 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS781467490 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS781736642 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS991981668 | Health Risk | Pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS1169002203 | Health Risk | Pathogenic/Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS144702323 | Health Risk | Pathogenic/Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |