IL12RB1 - interleukin 12 receptor subunit beta 1 Gene
Also Known as CD212; IMD30; IL12RB; IL-12R-BETA1
Species: Homo sapiens
About IL12RB1
This gene has 7 transcripts (splice variants), 506 orthologues, 23 paralogues and is associated with 3 phenotypes. Biased expression in lymph node (RPKM 5.0), spleen (RPKM 4.1) and 13 other tissues.
Summary
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]
IL12RB1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001290023.2 | NP_001276952.1 | interleukin-12 receptor subunit beta-1 isoform 3 precursor |
| NM_001290024.1 | NP_001276953.1 | interleukin-12 receptor subunit beta-1 isoform 4 |
| NM_005535.3 | NP_005526.1 | interleukin-12 receptor subunit beta-1 isoform 1 precursor |
| NM_153701.3 | NP_714912.1 | interleukin-12 receptor subunit beta-1 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables coreceptor activity |
IDA
IDA: Inferred from direct assay
|
29287995 | GOA |
| contributes to interleukin-12 receptor activity |
IDA
IDA: Inferred from direct assay
|
8943050 | GOA |
| contributes to interleukin-12 receptor binding |
IPI
IPI: Inferred from physical interaction
|
12023369 | GOA |
| contributes to interleukin-23 binding |
IPI
IPI: Inferred from physical interaction
|
12023369 | GOA |
| contributes to interleukin-23 receptor activity |
IDA
IDA: Inferred from direct assay
|
12023369 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular response to type II interferon |
IDA
IDA: Inferred from direct assay
|
12023369 | GOA |
| involved in interleukin-12-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
8943050 | GOA |
| involved in interleukin-23-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
29287995 | GOA |
| involved in positive regulation of T-helper 1 type immune response |
IDA
IDA: Inferred from direct assay
|
15114670 | GOA |
| involved in positive regulation of activated T cell proliferation |
IDA
IDA: Inferred from direct assay
|
11114383 | GOA |
| involved in positive regulation of defense response to virus by host |
IDA
IDA: Inferred from direct assay
|
12421946 | GOA |
| involved in positive regulation of type II interferon production |
IDA
IDA: Inferred from direct assay
|
11114383 | GOA |
| involved in positive regulation of type II interferon production |
IMP
IMP: Inferred from mutant phenotype
|
14635048 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of interleukin-12 receptor complex |
IDA
IDA: Inferred from direct assay
|
12023369 | GOA |
| part of interleukin-23 receptor complex |
IDA
IDA: Inferred from direct assay
|
12023369 | GOA |
IL12RB1 Protein Structure
fn3: Fibronectin type III domain (448 - 524)
- 0
- 200
- 400
- 600
- 662 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
interleukin-12 receptor subunit beta-1 |
|
Recombinant IL12RB1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70647 | IL-12R beta 1 Protein, Human (HEK293, His) | P42701-1 (C24-E540) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P78862 | IL-12R beta 1 Protein, Human (Biotinylated, HEK293, Fc-Avi) | P42701-1 (C24-E540) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Immunodeficiency 30 |
|
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| Salmonellosis |
|
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| Hepatocellular Carcinoma |
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| Miliary Tuberculosis |
|
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| Pulmonary Sarcoidosis |
|
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| Axillary Adenitis |
|
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| Primary Biliary Cholangitis |
|
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| Pulmonary Tuberculosis |
|
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| Lymphadenitis |
|
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| Immunodeficiency 29 |
|
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| Mycobacterium Fortuitum |
|
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| Paracoccidioidomycosis |
|
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| Immunodeficiency 35 |
|
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| Nocardiosis |
|
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| Opportunistic Bacterial Infectious Disease |
|
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| Subacute Sclerosing Panencephalitis |
|
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| Immune Deficiency Disease |
|
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| Hidradenitis Suppurativa |
|
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| Mycobacterium Tuberculosis 1 |
|
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| Hidradenitis |
|
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| Sarcoidosis 1 |
|
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| Myocarditis |
|
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| Tuberculous Salpingitis |
|
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| Nail Disease |
|
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| Chronic Mucocutaneous Candidiasis |
|
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| Tropical Spastic Paraparesis |
|
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| Immunodeficiency 21 |
|
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| Primary Systemic Mycosis |
|
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| Macs Syndrome |
|
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| Coccidioidomycosis |
|
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| Common Variable Immunodeficiency |
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| Immunodeficiency 16 |
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| Immunodeficiency 28 |
|
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| Penicilliosis |
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| Cutaneous Candidiasis |
|
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| Hyper Ige Recurrent Infection Syndrome 1 |
|
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| Autoimmune Polyendocrine Syndrome |
|
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| Immunodeficiency 13 |
|
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| Histoplasmosis |
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| Oral Candidiasis |
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| Dermatophytosis |
|
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| T Cell And Nk Cell Immunodeficiency |
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| Malaria |
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| Extrapulmonary Tuberculosis |
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| Immunodeficiency 27b |
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| Hyper Ige Syndrome |
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| Opportunistic Mycosis |
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| Fungal Infectious Disease |
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| Systemic Lupus Erythematosus |
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| Sweeney-Cox Syndrome |
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| Asthma |
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| Inflammatory Bowel Disease |
|
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| Dermatitis, Atopic |
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| Chronic Granulomatous Disease |
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| Behcet Syndrome |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | IL12RB1 | VGNC | VGNC:41934 |
| Rattus norvegicus | IL12RB1 | RGD | RGD:620025 |
| Bos taurus | IL12RB1 | VGNC | VGNC:30112 |
| Mus musculus | IL12RB1 | MGD | MGI:104579 |
| Felis catus | IL12RB1 | VGNC | VGNC:82440 |
| Macaca mulatta | IL12RB1 | VGNC | VGNC:73707 |
| Others | IL12RB1 | NCBI |