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IL12RB1 (interleukin 12 receptor subunit beta 1)

Identity

Alias_namesIL12RB
interleukin 12 receptor
Alias_symbol (synonym)CD212
Other aliasIL-12R-BETA1
IMD30
HGNC (Hugo) IL12RB1
LocusID (NCBI) 3594
Atlas_Id 40941
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 18058995 and ends at 18087003 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TICAM1 (19p13.3) / IL12RB1 (19p13.11)TICAM1 19p13.3 / IL12RB1 19p13.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)IL12RB1   5971
LRG (Locus Reference Genomic)LRG_72
Cards
Entrez_Gene (NCBI)IL12RB1  3594  interleukin 12 receptor subunit beta 1
AliasesCD212; IL-12R-BETA1; IL12RB; IMD30
GeneCards (Weizmann)IL12RB1
Ensembl hg19 (Hinxton)ENSG00000096996 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000096996 [Gene_View]  chr19:18058995-18087003 [Contig_View]  IL12RB1 [Vega]
ICGC DataPortalENSG00000096996
TCGA cBioPortalIL12RB1
AceView (NCBI)IL12RB1
Genatlas (Paris)IL12RB1
WikiGenes3594
SOURCE (Princeton)IL12RB1
Genetics Home Reference (NIH)IL12RB1
Genomic and cartography
GoldenPath hg38 (UCSC)IL12RB1  -     chr19:18058995-18087003 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IL12RB1  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblIL12RB1 - 19p13.11 [CytoView hg19]  IL12RB1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIIL12RB1 [Mapview hg19]  IL12RB1 [Mapview hg38]
OMIM601604   614891   
Gene and transcription
Genbank (Entrez)AI637915 AK225919 AK290423 BC029121 BC137404
RefSeq transcript (Entrez)NM_001290023 NM_001290024 NM_005535 NM_153701
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IL12RB1
Cluster EST : UnigeneHs.567294 [ NCBI ]
CGAP (NCI)Hs.567294
Alternative Splicing GalleryENSG00000096996
Gene ExpressionIL12RB1 [ NCBI-GEO ]   IL12RB1 [ EBI - ARRAY_EXPRESS ]   IL12RB1 [ SEEK ]   IL12RB1 [ MEM ]
Gene Expression Viewer (FireBrowse)IL12RB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3594
GTEX Portal (Tissue expression)IL12RB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42701   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP42701  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42701
Splice isoforms : SwissVarP42701
PhosPhoSitePlusP42701
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_L_F2 (PS01353)   
Domains : Interpro (EBI)FN3_dom    Hematopoietin_rcpt_Gp130_CS    Ig-like_fold   
Domain families : Pfam (Sanger)fn3 (PF00041)   
Domain families : Pfam (NCBI)pfam00041   
Domain families : Smart (EMBL)FN3 (SM00060)  
Conserved Domain (NCBI)IL12RB1
DMDM Disease mutations3594
Blocks (Seattle)IL12RB1
SuperfamilyP42701
Human Protein AtlasENSG00000096996
Peptide AtlasP42701
HPRD03363
IPIIPI00001400   IPI00218703   IPI00297449   
Protein Interaction databases
DIP (DOE-UCLA)P42701
IntAct (EBI)P42701
FunCoupENSG00000096996
BioGRIDIL12RB1
STRING (EMBL)IL12RB1
ZODIACIL12RB1
Ontologies - Pathways
QuickGOP42701
Ontology : AmiGOpositive regulation of T cell mediated cytotoxicity  positive regulation of defense response to virus by host  positive regulation of defense response to virus by host  positive regulation of T-helper 1 type immune response  positive regulation of T-helper 1 type immune response  cytokine receptor activity  interleukin-12 receptor binding  plasma membrane  signal transduction  external side of plasma membrane  interleukin-12 receptor activity  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  positive regulation of interferon-gamma production  positive regulation of interferon-gamma production  interleukin-12-mediated signaling pathway  interleukin-23-mediated signaling pathway  interleukin-23 binding  interleukin-23 receptor activity  interleukin-12 receptor complex  positive regulation of activated T cell proliferation  positive regulation of memory T cell differentiation  cellular response to interferon-gamma  interleukin-23 receptor complex  positive regulation of T-helper 17 type immune response  positive regulation of T-helper 17 cell lineage commitment  
Ontology : EGO-EBIpositive regulation of T cell mediated cytotoxicity  positive regulation of defense response to virus by host  positive regulation of defense response to virus by host  positive regulation of T-helper 1 type immune response  positive regulation of T-helper 1 type immune response  cytokine receptor activity  interleukin-12 receptor binding  plasma membrane  signal transduction  external side of plasma membrane  interleukin-12 receptor activity  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  positive regulation of interferon-gamma production  positive regulation of interferon-gamma production  interleukin-12-mediated signaling pathway  interleukin-23-mediated signaling pathway  interleukin-23 binding  interleukin-23 receptor activity  interleukin-12 receptor complex  positive regulation of activated T cell proliferation  positive regulation of memory T cell differentiation  cellular response to interferon-gamma  interleukin-23 receptor complex  positive regulation of T-helper 17 type immune response  positive regulation of T-helper 17 cell lineage commitment  
Pathways : BIOCARTANO2-dependent IL 12 Pathway in NK cells [Genes]    Selective expression of chemokine receptors during T-cell polarization [Genes]    IL12 and Stat4 Dependent Signaling Pathway in Th1 Development [Genes]    Th1/Th2 Differentiation [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    Jak-STAT signaling pathway    Inflammatory bowel disease (IBD)   
NDEx NetworkIL12RB1
Atlas of Cancer Signalling NetworkIL12RB1
Wikipedia pathwaysIL12RB1
Orthology - Evolution
OrthoDB3594
GeneTree (enSembl)ENSG00000096996
Phylogenetic Trees/Animal Genes : TreeFamIL12RB1
HOVERGENP42701
HOGENOMP42701
Homologs : HomoloGeneIL12RB1
Homology/Alignments : Family Browser (UCSC)IL12RB1
Gene fusions - Rearrangements
Fusion : MitelmanTICAM1/IL12RB1 [19p13.3/19p13.11]  [t(19;19)(p13;p13)]  
Fusion: TCGATICAM1 19p13.3 IL12RB1 19p13.11 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIL12RB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IL12RB1
dbVarIL12RB1
ClinVarIL12RB1
1000_GenomesIL12RB1 
Exome Variant ServerIL12RB1
ExAC (Exome Aggregation Consortium)IL12RB1 (select the gene name)
Genetic variants : HAPMAP3594
Genomic Variants (DGV)IL12RB1 [DGVbeta]
DECIPHERIL12RB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIL12RB1 
Mutations
ICGC Data PortalIL12RB1 
TCGA Data PortalIL12RB1 
Broad Tumor PortalIL12RB1
OASIS PortalIL12RB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIL12RB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIL12RB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch IL12RB1
DgiDB (Drug Gene Interaction Database)IL12RB1
DoCM (Curated mutations)IL12RB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IL12RB1 (select a term)
intoGenIL12RB1
Cancer3DIL12RB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601604    614891   
Orphanet874    21672   
MedgenIL12RB1
Genetic Testing Registry IL12RB1
NextProtP42701 [Medical]
TSGene3594
GENETestsIL12RB1
Target ValidationIL12RB1
Huge Navigator IL12RB1 [HugePedia]
snp3D : Map Gene to Disease3594
BioCentury BCIQIL12RB1
ClinGenIL12RB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3594
Chemical/Pharm GKB GenePA29786
Clinical trialIL12RB1
Miscellaneous
canSAR (ICR)IL12RB1 (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIL12RB1
EVEXIL12RB1
GoPubMedIL12RB1
iHOPIL12RB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:56:14 CEST 2017

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