IL12RB1
Interleukin-12 receptor subunit beta-1
Also known as: CD212, I12R1_HUMAN, IL12RB
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P42701
- Gene
- IL12RB1
- Ensembl
- ENSG00000096996
- Chromosome
- 19
- Canonical length
- 662 aa
- Protein class
- CD markers, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Plasma membrane
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
662 residues, UniProt reviewed canonical sequence.
>P42701|IL12RB1
1 MEPLVTWVVP LLFLFLLSRQ GAACRTSECC FQDPPYPDAD SGSASGPRDL RCYRISSDRY
61 ECSWQYEGPT AGVSHFLRCC LSSGRCCYFA AGSATRLQFS DQAGVSVLYT VTLWVESWAR
121 NQTEKSPEVT LQLYNSVKYE PPLGDIKVSK LAGQLRMEWE TPDNQVGAEV QFRHRTPSSP
181 WKLGDCGPQD DDTESCLCPL EMNVAQEFQL RRRQLGSQGS SWSKWSSPVC VPPENPPQPQ
241 VRFSVEQLGQ DGRRRLTLKE QPTQLELPEG CQGLAPGTEV TYRLQLHMLS CPCKAKATRT
301 LHLGKMPYLS GAAYNVAVIS SNQFGPGLNQ TWHIPADTHT EPVALNISVG TNGTTMYWPA
361 RAQSMTYCIE WQPVGQDGGL ATCSLTAPQD PDPAGMATYS WSRESGAMGQ EKCYYITIFA
421 SAHPEKLTLW STVLSTYHFG GNASAAGTPH HVSVKNHSLD SVSVDWAPSL LSTCPGVLKE
481 YVVRCRDEDS KQVSEHPVQP TETQVTLSGL RAGVAYTVQV RADTAWLRGV WSQPQRFSIE
541 VQVSDWLIFF ASLGSFLSIL LVGVLGYLGL NRAARHLCPP LPTPCASSAI EFPGGKETWQ
601 WINPVDFQEE ASLQEALVVE MSWDKGERTE PLEKTELPEG APELALDTEL SLEDGDRCKA
661 KMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IL12RB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 23 nTPM
Expression across tissuesHPA
Tissue
- lymph node: 23 nTPM
- spleen: 16 nTPM
- appendix: 14 nTPM
- tonsil: 13 nTPM
- bone marrow: 8 nTPM
- small intestine: 6.5 nTPM
Single-cell type
- nk-cells: 30 nCPM
- t-cells: 29 nCPM
- neutrophils: 24 nCPM
- kupffer cells: 20 nCPM
- endometrial glandular cells: 16 nCPM
- b-cells: 15 nCPM
Immune cell
- MAIT T-cell: 63 nTPM
- T-reg: 52 nTPM
- gdT-cell: 50 nTPM
- memory CD8 T-cell: 41 nTPM
- NK-cell: 40 nTPM
- intermediate monocyte: 34 nTPM
Brain region
- white matter: 12 nTPM
- medulla oblongata: 10 nTPM
- cerebral cortex: 9.7 nTPM
- thalamus: 9.4 nTPM
- pons: 9.3 nTPM
- choroid plexus: 8.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IL12RB1.
Disease | AllUniProt
Conditions IL12RB1 is implicated in, by any mechanism.
- Immunodeficiency 30 (IMD30) MIM:614891
Disease | GeneticClinVar
76 pathogenic / likely-pathogenic of 668 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- IL12RB1-related disorder
- Lung cancer
- Inherited Immunodeficiency Diseases
- Mycobacterium tuberculosis, susceptibility to
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.91
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.24
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to type II interferon
- cytokine-mediated signaling pathway
- interleukin-12-mediated signaling pathway
- interleukin-23-mediated signaling pathway
- positive regulation of activated T cell proliferation
- positive regulation of cell population proliferation
- positive regulation of defense response to virus by host
- positive regulation of memory T cell differentiation
- positive regulation of T cell mediated cytotoxicity
- positive regulation of T-helper 1 type immune response
- positive regulation of T-helper 17 cell lineage commitment
- positive regulation of T-helper 17 type immune response
- positive regulation of type II interferon production
- signal transduction
Molecular functions
- coreceptor activity
- cytokine binding
- cytokine receptor activity
- interleukin-12 receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IL12RB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IL12RB1 as an antibody target. Whether an autoantibody or antibody against IL12RB1 could matter depends on whether native IL12RB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IL12RB1 is annotated at the cell surface, where native IL12RB1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label IL12RB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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