• Gene id: 3594

Gene Summary

• Gene Symbol: IL12RB1   Gene   UCSC   Ensembl
• Aliases: CD212, IL-12R-BETA1, IL12RB, IMD30
• Gene name: interleukin 12 receptor subunit beta 1
• Alternate names: interleukin-12 receptor subunit beta-1, IL-12 receptor beta component, IL-12 receptor subunit beta-1, IL-12R subunit beta-1, cluster of differentiation 212, interleukin 12 receptor, beta 1, interleukin-12 receptor beta-1 chain,
• Gene location: 19p13.11 (195990278: 195959920)     Exons: 17     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 601604

Protein Summary

• Protein general information: P42701  
  • 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)
  • Length: 662  
  • Mass: 73109
• Sequence:

  MEPLVTWVVPLLFLFLLSRQGAACRTSECCFQDPPYPDADSGSASGPRDLRCYRISSDRYECSWQYEGPTAGVSH
  FLRCCLSSGRCCYFAAGSATRLQFSDQAGVSVLYTVTLWVESWARNQTEKSPEVTLQLYNSVKYEPPLGDIKVSK
  LAGQLRMEWETPDNQVGAEVQFRHRTPSSPWKLGDCGPQDDDTESCLCPLEMNVAQEFQLRRRQLGSQGSSWSKW
  SSPVCVPPENPPQPQVRFSVEQLGQDGRRRLTLKEQPTQLELPEGCQGLAPGTEVTYRLQLHMLSCPCKAKATRT
  LHLGKMPYLSGAAYNVAVISSNQFGPGLNQTWHIPADTHTEPVALNISVGTNGTTMYWPARAQSMTYCIEWQPVG
  QDGGLATCSLTAPQDPDPAGMATYSWSRESGAMGQEKCYYITIFASAHPEKLTLWSTVLSTYHFGGNASAAGTPH
  HVSVKNHSLDSVSVDWAPSLLSTCPGVLKEYVVRCRDEDSKQVSEHPVQPTETQVTLSGLRAGVAYTVQVRADTA
  WLRGVWSQPQRFSIEVQVSDWLIFFASLGSFLSILLVGVLGYLGLNRAARHLCPPLPTPCASSAIEFPGGKETWQ
  WINPVDFQEEASLQEALVVEMSWDKGERTEPLEKTELPEGAPELALDTELSLEDGDRCKAKM

• Structural information:
  • Protein Domains: (46..13-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (142..23-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (237..33-)
    3 (/note="Fibronectin-type-III)
    (/ev-)
  • Interpro: IPR003961  IPR036116  IPR003529  IPR013783  
  • Prosite: PS50853 PS01353
  • CDD: cd00063
  • DIP: 3773
  • STRING: ENSP00000470788
• Other Databases: GeneCards:  IL12RB1  Malacards:  IL12RB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072536	interleukin-23 receptor complex	IBA	cellular component
GO:0043235	receptor complex	IBA	cellular component
GO:0042019	interleukin-23 binding	IBA	contributes to
GO:0019955	cytokine binding	IBA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0005143	interleukin-12 receptor binding	IBA	contributes to
GO:0042104	positive regulation of activated T cell proliferation	IBA	biological process
GO:0042022	interleukin-12 receptor complex	IBA	cellular component
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0004896	cytokine receptor activity	IBA	molecular function
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0038155	interleukin-23-mediated signaling pathway	TAS	biological process
GO:0016517	interleukin-12 receptor activity	IDA	contributes to
GO:0042020	interleukin-23 receptor activity	IDA	contributes to
GO:0005143	interleukin-12 receptor binding	IPI	contributes to
GO:0042019	interleukin-23 binding	IPI	contributes to
GO:0002827	positive regulation of T-helper 1 type immune response	IDA	biological process
GO:0007165	signal transduction	IC	biological process
GO:0071346	cellular response to interferon-gamma	IDA	biological process
GO:0072536	interleukin-23 receptor complex	IDA	cellular component
GO:0002827	positive regulation of T-helper 1 type immune response	ISS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0002230	positive regulation of defense response to virus by host	IDA	biological process
GO:0032729	positive regulation of interferon-gamma production	IDA	biological process
GO:0042022	interleukin-12 receptor complex	IDA	cellular component
GO:0042104	positive regulation of activated T cell proliferation	IDA	biological process
GO:0001916	positive regulation of T cell mediated cytotoxicity	ISS	biological process
GO:0002230	positive regulation of defense response to virus by host	ISS	biological process
GO:0032729	positive regulation of interferon-gamma production	IMP	biological process
GO:0043382	positive regulation of memory T cell differentiation	ISS	biological process
GO:2000318	positive regulation of T-helper 17 type immune response	ISS	biological process
GO:2000330	positive regulation of T-helper 17 cell lineage commitment	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004896	cytokine receptor activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04659	Th17 cell differentiation
hsa04658	Th1 and Th2 cell differentiation
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Primary biliary cirrhosis	PMID:23910013
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray