IL12RB2

interleukin 12 receptor subunit beta 2, the group of Interleukin receptors|Fibronectin type III domain containing

Basic information

Region (hg38): 1:67307364-67398724

Links

ENSG00000081985 ∙ NCBI:3595 ∙ OMIM:601642 ∙ HGNC:5972 ∙ Uniprot:Q99665 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL12RB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL12RB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	86	6	93
missense			236	14	9	259
nonsense			4			4
start loss						0
frameshift			12			12
inframe indel			4	1		5
splice donor/acceptor (+/-2bp)			8			8
splice region			13	13	2	28
non coding			1	33	9	43
Total	0	0	266	134	24

Variants in IL12RB2

This is a list of pathogenic ClinVar variants found in the IL12RB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-67320372-G-A			Uncertain significance (Mar 17, 2023)
1-67320374-A-G			Likely benign (Jun 13, 2018)
1-67320377-T-C			Likely benign (Jul 19, 2022)
1-67320378-A-G			Likely benign (Jan 01, 2024)
1-67320383-T-A			Uncertain significance (Aug 22, 2022)
1-67320389-A-T			Uncertain significance (May 23, 2023)
1-67320391-G-A			Uncertain significance (Jan 15, 2024)
1-67320393-T-C			Likely benign (Jan 16, 2024)
1-67320402-T-C			Uncertain significance (Aug 14, 2023)
1-67320405-A-G		IL12RB2-related disorder	Benign (Jan 29, 2024)
1-67320407-G-A			Uncertain significance (Oct 20, 2022)
1-67320418-C-A			Uncertain significance (Nov 18, 2023)
1-67320418-C-T			Uncertain significance (Jul 29, 2023)
1-67320419-G-A			Likely benign (Dec 11, 2023)
1-67320420-T-G			Uncertain significance (Aug 24, 2022)
1-67320428-G-A			Likely benign (Nov 28, 2023)
1-67320443-A-G			Uncertain significance (Sep 14, 2022)
1-67320445-G-T			Uncertain significance (Feb 18, 2023)
1-67320446-T-G			Uncertain significance (Aug 10, 2023)
1-67320456-C-T			Likely benign (Dec 21, 2023)
1-67321582-G-T			Likely benign (Aug 19, 2022)
1-67321590-A-G			Likely benign (Oct 05, 2023)
1-67321603-T-C		IL12RB2-related disorder	Benign (Jan 31, 2024)
1-67321605-C-T			Uncertain significance (Aug 17, 2023)
1-67321606-G-A			Likely benign (Feb 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL12RB2	protein_coding	protein_coding	ENST00000262345	15	89537

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.62e-9	1.00	125645	0	103	125748	0.000410

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.221	429	442	0.970	0.0000227	5647
Missense in Polyphen		97	106.54	0.91048		1396
Synonymous	-0.964	180	164	1.10	0.00000878	1679
Loss of Function	3.12	22	44.4	0.495	0.00000226	520

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00103	0.00103
Ashkenazi Jewish	0.000108	0.0000992
East Asian	0.000544	0.000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000457	0.000457
Middle Eastern	0.000544	0.000544
South Asian	0.000457	0.000457
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: 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 IFN-gamma production.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Inflammatory bowel disease (IBD) - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);no2-dependent il-12 pathway in nk cells;Interleukin-12 family signaling;Signaling by Interleukins;il12 and stat4 dependent signaling pathway in th1 development;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;IL-12 signaling;Immune System;JAK STAT MolecularVariation 2;JAK STAT pathway and regulation;Interleukin-12 signaling;IL27-mediated signaling events;IL12-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.192

Intolerance Scores

• loftool: 0.739
• rvis_EVS: 0.96
• rvis_percentile_EVS: 90.19

Haploinsufficiency Scores

• pHI: 0.209
• hipred: N
• hipred_score: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Il12rb2
• Phenotype: liver/biliary system phenotype; neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; digestive/alimentary phenotype; renal/urinary system phenotype; homeostasis/metabolism phenotype; immune system phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: cell surface receptor signaling pathway;positive regulation of cell population proliferation;peptidyl-tyrosine phosphorylation;response to lipopolysaccharide;interferon-gamma production;positive regulation of interferon-gamma production;interleukin-12-mediated signaling pathway;interleukin-35-mediated signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane;external side of plasma membrane;receptor complex
• Molecular function: cytokine receptor activity;protein kinase binding;cytokine binding