GeneBe

IL22RA2

interleukin 22 receptor subunit alpha 2, the group of Interleukin receptors

Basic information

Region (hg38): 6:137143820-137173648

Links

ENSG00000164485 ∙ NCBI:116379 ∙ OMIM:606648 ∙ HGNC:14901 ∙ Uniprot:Q969J5 ∙ 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 IL22RA2 gene.

  • not_specified (28 variants)
  • Multisystem_inflammatory_syndrome_in_children (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL22RA2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052962.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
26
clinvar
2
clinvar
 28
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 27 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IL22RA2protein_codingprotein_codingENST00000296980 629818
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.21e-160.0007861256680721257400.000286
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1361451401.030.000006851731
Missense in Polyphen5542.1551.3047516
Synonymous1.103948.70.8000.00000260458
Loss of Function-1.362115.31.388.20e-7161

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001110.00110
Ashkenazi Jewish0.0001990.000198
East Asian0.0004370.000435
Finnish0.00004620.0000462
European (Non-Finnish)0.0003200.000317
Middle Eastern0.0004370.000435
South Asian0.0001310.000131
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Isoform 2 is a receptor for IL22. Binds to IL22, prevents interaction with the functional IL-22R complex and blocks the activity of IL22 (in vitro). May play an important role as an IL22 antagonist in the regulation of inflammatory responses.;
Pathway
Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Ncore;Signaling by Interleukins;il22 soluble receptor signaling pathway;Cytokine Signaling in Immune system;Interleukin-20 family signaling;Immune System (Consensus)

Recessive Scores

pRec
0.0815

Intolerance Scores

loftool
0.612
rvis_EVS
-0.25
rvis_percentile_EVS
35.99

Haploinsufficiency Scores

pHI
0.0470
hipred
N
hipred_score
0.123
ghis
0.403

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.970

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Il22ra2
Phenotype
homeostasis/metabolism phenotype; digestive/alimentary phenotype; neoplasm; immune system phenotype;

Gene ontology

Biological process
cytokine-mediated signaling pathway;regulation of tyrosine phosphorylation of STAT protein;negative regulation of inflammatory response
Cellular component
extracellular region;extracellular space;cytosol;plasma membrane
Molecular function
cytokine receptor activity;interleukin-22 binding;interleukin-22 receptor activity