IL20RA

interleukin 20 receptor subunit alpha, the group of Interleukin receptors

Basic information

Region (hg38): 6:136999970-137045180

Links

ENSG00000016402 ∙ NCBI:53832 ∙ OMIM:605620 ∙ HGNC:6003 ∙ Uniprot:Q9UHF4 ∙ 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 IL20RA gene.

• Inborn genetic diseases (21 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL20RA 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						0
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding			2			2
Total	0	0	21	0	0

Variants in IL20RA

This is a list of pathogenic ClinVar variants found in the IL20RA region.

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

Position	Type	Phenotype	Significance	ClinVar
6-137001583-C-G		not specified	Uncertain significance (Aug 16, 2022)
6-137001592-T-C		not specified	Uncertain significance (Dec 22, 2023)
6-137001662-T-C		not specified	Uncertain significance (Dec 18, 2023)
6-137001683-C-T		not specified	Uncertain significance (Nov 10, 2022)
6-137001722-C-T		not specified	Uncertain significance (Feb 07, 2023)
6-137001865-G-C		not specified	Uncertain significance (May 08, 2023)
6-137001880-T-C		not specified	Uncertain significance (Jan 09, 2024)
6-137001931-G-A		not specified	Uncertain significance (Jan 10, 2023)
6-137001934-C-T		not specified	Uncertain significance (Jan 20, 2023)
6-137001998-T-A		not specified	Uncertain significance (Dec 01, 2022)
6-137002039-G-A		not specified	Uncertain significance (Dec 02, 2022)
6-137002100-C-T		not specified	Uncertain significance (Aug 19, 2023)
6-137002114-A-C		not specified	Uncertain significance (Apr 20, 2023)
6-137002258-T-C		not specified	Uncertain significance (Jul 06, 2022)
6-137004649-A-G		not specified	Uncertain significance (Jun 29, 2022)
6-137004764-TA-T		not specified	Benign (Mar 29, 2016)
6-137004764-TAA-T		not specified	Benign (Mar 29, 2016)
6-137008618-C-A		not specified	Uncertain significance (Aug 12, 2021)
6-137008644-G-A		not specified	Uncertain significance (Mar 23, 2023)
6-137008659-C-T		not specified	Uncertain significance (Dec 21, 2022)
6-137008691-T-C		not specified	Uncertain significance (Dec 15, 2023)
6-137011334-T-C		not specified	Uncertain significance (Oct 13, 2023)
6-137011399-G-C		not specified	Uncertain significance (Sep 06, 2022)
6-137011400-T-C		not specified	Uncertain significance (Jun 07, 2023)
6-137011409-T-C		not specified	Uncertain significance (Dec 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL20RA	protein_coding	protein_coding	ENST00000316649	7	45191

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0271	0.971	125715	0	32	125747	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.712	252	286	0.881	0.0000147	3581
Missense in Polyphen		58	73.919	0.78464		944
Synonymous	1.11	103	118	0.871	0.00000691	1084
Loss of Function	2.68	6	18.4	0.325	8.67e-7	231

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000323	0.000323
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.00	0.00
South Asian	0.0000656	0.0000653
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL20RA/IL10RB dimer is a receptor for IL26.
• 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: 0.118

Intolerance Scores

• loftool: 0.538
• rvis_EVS: 0.38
• rvis_percentile_EVS: 75.51

Haploinsufficiency Scores

• pHI: 0.138
• hipred: N
• hipred_score: 0.233
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.534

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il20ra
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); cellular phenotype

Gene ontology

• Biological process: cytokine-mediated signaling pathway;regulation of bone resorption;positive regulation of intrinsic apoptotic signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: cytokine receptor activity;protein binding;interleukin-20 binding