IL20RB

interleukin 20 receptor subunit beta, the group of Interleukin receptors|Fibronectin type III domain containing

Basic information

Region (hg38): 3:136946229-137011085

Previous symbols: [ "FNDC6" ]

Links

ENSG00000174564 ∙ NCBI:53833 ∙ OMIM:605621 ∙ HGNC:6004 ∙ Uniprot:Q6UXL0 ∙ 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 IL20RB gene.

• Inborn genetic diseases (11 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL20RB 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	1
missense			8	3		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	3	1

Variants in IL20RB

This is a list of pathogenic ClinVar variants found in the IL20RB region.

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

Position	Type	Phenotype	Significance	ClinVar
3-136948274-G-A		not specified	Uncertain significance (Jul 15, 2021)
3-136948292-G-A		not specified	Uncertain significance (Jan 03, 2024)
3-136948318-A-T		not specified	Uncertain significance (Jan 02, 2024)
3-136948364-A-T		not specified	Uncertain significance (Dec 28, 2022)
3-136948380-A-G		not specified	Uncertain significance (May 17, 2023)
3-136980553-C-T		not specified	Likely benign (May 15, 2023)
3-136980582-G-A		not specified	Uncertain significance (Feb 06, 2024)
3-136982180-C-T		not specified	Likely benign (Jul 25, 2023)
3-136982228-C-T		not specified	Uncertain significance (Jan 16, 2024)
3-136982279-G-A		not specified	Uncertain significance (Dec 28, 2023)
3-136982330-A-G		not specified	Uncertain significance (Dec 28, 2022)
3-136989471-C-T		not specified	Uncertain significance (Sep 29, 2022)
3-136989562-C-G			Benign (Apr 11, 2018)
3-136991971-C-A		not specified	Uncertain significance (Feb 16, 2023)
3-136991989-A-G		not specified	Uncertain significance (Jan 06, 2023)
3-136995459-T-G		not specified	Uncertain significance (Jul 25, 2023)
3-136995507-G-A		not specified	Likely benign (Jul 09, 2021)
3-136995533-G-A		not specified	Uncertain significance (Jun 06, 2023)
3-137010114-A-T		not specified	Uncertain significance (Apr 13, 2022)
3-137010153-G-C		not specified	Uncertain significance (Sep 01, 2021)
3-137010179-G-T		not specified	Uncertain significance (Jan 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL20RB	protein_coding	protein_coding	ENST00000329582	7	64856

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.65e-8	0.346	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.612	153	176	0.870	0.00000912	2028
Missense in Polyphen		21	34.264	0.61289		422
Synonymous	0.497	65	70.3	0.925	0.00000405	612
Loss of Function	0.679	13	15.9	0.816	7.64e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000356	0.000356
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000239	0.000237
Middle Eastern	0.000326	0.000326
South Asian	0.000105	0.0000980
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL22RA1/IL20RB dimer is a receptor for IL20 and IL24.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Signaling by Interleukins;Cytokine Signaling in Immune system;Interleukin-20 family signaling;Immune System (Consensus)

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.520
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.13

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.213
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.677

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il20rb
• Phenotype: immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); reproductive system phenotype; normal phenotype; 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; homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of type IV hypersensitivity;inflammatory response to antigenic stimulus;immune response-inhibiting signal transduction;cytokine-mediated signaling pathway;negative regulation of interferon-gamma production;negative regulation of interleukin-2 production;positive regulation of interleukin-10 production;positive regulation of interleukin-4 production;negative regulation of T cell proliferation;homeostasis of number of cells within a tissue
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: cytokine receptor activity;protein binding;interleukin-20 binding