Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3594
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 12 receptor subunit beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL12RB1
Synonyms (NCBI Gene) Gene synonyms aliases
CD212, IL-12R-BETA1, IL12RB, IMD30
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD30
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez 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 f
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs11575925 G>C Conflicting-interpretations-of-pathogenicity Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs121434492 G>A Pathogenic Coding sequence variant, genic upstream transcript variant, stop gained
rs121434493 G>A Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained
rs121434494 G>A Pathogenic Coding sequence variant, missense variant
rs121434495 A>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT756167 hsa-miR-146a-5p Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC), Flow cytometry 35819446
MIRT1063613 hsa-miR-1225-3p CLIP-seq
MIRT1063614 hsa-miR-1228 CLIP-seq
MIRT1063615 hsa-miR-1233 CLIP-seq
MIRT1063616 hsa-miR-1273f CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity ISS
GO:0002230 Process Positive regulation of defense response to virus by host IDA 12421946
GO:0002230 Process Positive regulation of defense response to virus by host ISS
GO:0002827 Process Positive regulation of T-helper 1 type immune response IDA 15114670
GO:0002827 Process Positive regulation of T-helper 1 type immune response ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601604 5971 ENSG00000096996
Protein
UniProt ID P42701
Protein name Interleukin-12 receptor subunit beta-1 (IL-12 receptor subunit beta-1) (IL-12R subunit beta-1) (IL-12R-beta-1) (IL-12RB1) (IL-12 receptor beta component) (CD antigen CD212)
Protein function Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Also associates with IL23R to form the interl
PDB 6WDP , 6WDQ , 8C7M , 8ODX , 8OE4 , 8XRP , 8YI7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00041 fn3 447 532 Fibronectin type III domain Domain
Sequence
MEPLVTWVVPLLFLFLLSRQGAACRTSECCFQDPPYPDADSGSASGPRDLRCYRISSDRY
ECSWQYEGPTAGVSHFLRCCLSSGRCCYFAAGSATRLQFSDQAGVSVLYTVTLWVESWAR
NQTEKSPEVTLQLYNSVKYEPPLGDIKVSKLAGQLRMEWETPDNQVGAEVQFRHRTPSSP
WKLGDCGPQDDDTESCLCPLEMNVAQEFQLRRRQLGSQGSSWSKWSSPVCVPPENPPQPQ
VRFSVEQLGQDGRRRLTLKEQPTQLELPEGCQGLAPGTEVTYRLQLHMLSCPCKAKATRT
LHLGKMPYLSGAAYNVAVISSNQFGPGLNQTWHIPADTHTEPVALNISVGTNGTTMYWPA
RAQSMTYCIEWQPVGQDGGLATCSLTAPQDPDPAGMATYSWSRESGAMGQEKCYYITIFA
SAHPEKLTLWSTVLSTYHFGGNASAAGTPHHVSVKNHSLDSVSVDWAPSLLSTCPGVLKE
YVVRCRDEDSKQVSEHPVQPTETQVTLSGLRAGVAYTVQVRADTAWLRGVWS
QPQRFSIE
VQVSDWLIFFASLGSFLSILLVGVLGYLGLNRAARHLCPPLPTPCASSAIEFPGGKETWQ
WINPVDFQEEASLQEALVVEMSWDKGERTEPLEKTELPEGAPELALDTELSLEDGDRCKA
KM
Sequence length 662
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Pathways in cancer
Inflammatory bowel disease
  Interleukin-12 signaling
Interleukin-23 signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Immunodeficiency IMMUNODEFICIENCY 30 rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866
View all (256 more)
12591909, 11424023, 21487897, 9603733, 21057261, 27141500
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116
View all (10 more)
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac Disease ClinVar
Cirrhosis Cirrhosis ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 23280621
Anemia Hemolytic Associate 28266204
Anthrax Associate 30255293
Arthrogryposis Associate 21905505, 30255293, 30740107
Asthma Associate 22325360, 29256176
Autoimmune Diseases Associate 28266204
Behcet Syndrome Associate 12932289, 24859272
Bone Diseases Metabolic Associate 20350312
Breast Neoplasms Associate 23996684
Bronchopneumonia Associate 22992471, 23410226