Gene Gene information from NCBI Gene database.
Entrez ID 3595
Gene name Interleukin 12 receptor subunit beta 2
Gene symbol IL12RB2
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p31.3
Summary The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and rec
miRNA miRNA information provided by mirtarbase database.
46
miRTarBase ID miRNA Experiments Reference
MIRT025732 hsa-miR-7-5p Microarray 17612493
MIRT039597 hsa-miR-625-5p CLASH 23622248
MIRT621069 hsa-miR-450a-1-3p HITS-CLIP 23824327
MIRT621068 hsa-miR-3122 HITS-CLIP 23824327
MIRT621067 hsa-miR-3913-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
GATA3 Repression 21632975
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IEA
GO:0004896 Function Cytokine receptor activity TAS 8943050
GO:0005886 Component Plasma membrane IC 8943050
GO:0005886 Component Plasma membrane IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601642 5972 ENSG00000081985
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99665
Protein name Interleukin-12 receptor subunit beta-2 (IL-12 receptor subunit beta-2) (IL-12R subunit beta-2) (IL-12R-beta-2) (IL-12RB2)
Protein function Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing
PDB 8XRP , 8YI7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06328 Lep_receptor_Ig 28 110 Ig-like C2-type domain Domain
PF00041 fn3 422 511 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is expressed at similar levels in both naive and activated T-cells. {ECO:0000269|PubMed:9120388}.
Sequence
MAHTFRGCSLAFMFIITWLLIKAKIDACKRGDVTVKPSHVILLGSTVNITCSLKPRQGCF
HYSRRNKLILYKFDRRINFHHGHSLNSQVTGLPLGTTLFVCKLACINSDE
IQICGAEIFV
GVAPEQPQNLSCIQKGEQGTVACTWERGRDTHLYTEYTLQLSGPKNLTWQKQCKDIYCDY
LDFGINLTPESPESNFTAKVTAVNSLGSSSSLPSTFTFLDIVRPLPPWDIRIKFQKASVS
RCTLYWRDEGLVLLNRLRYRPSNSRLWNMVNVTKAKGRHDLLDLKPFTEYEFQISSKLHL
YKGSWSDWSESLRAQTPEEEPTGMLDVWYMKRHIDYSRQQISLFWKNLSVSEARGKILHY
QVTLQELTGGKAMTQNITGHTSWTTVIPRTGNWAVAVSAANSKGSSLPTRINIMNLCEAG
LLAPRQVSANSEGMDNILVTWQPPRKDPSAVQEYVVEWRELHPGGDTQVPLNWLRSRPYN
VSALISENIKSYICYEIRVYALSGDQGGCSS
ILGNSKHKAPLSGPHINAITEEKGSILIS
WNSIPVQEQMGCLLHYRIYWKERDSNSQPQLCEIPYRVSQNSHPINSLQPRVTYVLWMTA
LTAAGESSHGNEREFCLQGKANWMAFVAPSICIAIIMVGIFSTHYFQQKVFVLLAALRPQ
WCSREIPDPANSTCAKKYPIAEEKTQLPLDRLLIDWPTPEDPEPLVISEVLHQVTPVFRH
PPCSNWPQREKGIQGHQASEKDMMHSASSPPPPRALQAESRQLVDLYKVLESRGSDPKPE
NPACPWTVLPAGDLPTHDGYLPSNIDDLPSHEAPLADSLEELEPQHISLSVFPSSSLHPL
TFSCGDKLTLDQLKMRCDSLML
Sequence length 862
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
Pathways in cancer
Inflammatory bowel disease
  Interleukin-35 Signalling
Interleukin-12 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19582164, 26547104
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis LHGDN 18353079
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 24997981
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 26916345, 28381868
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 19473523
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 19473523, 29794786 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 24641287 Stimulate
★☆☆☆☆
Found in Text Mining only
Atrioventricular Septal Defect Atrioventricular septal defect Pubtator 27396555 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 34149710, 9120388 Associate
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 20622878, 20622879, 22197900, 22378604, 24859272, 25940109, 26097239, 27464962, 27660093, 29017598
★☆☆☆☆
Found in Text Mining only