IL1RL2

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			47 clinvar	4 clinvar	2 clinvar	53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	6	2	55

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signaling by Interleukins
Cytokine Signaling in Immune system
Immune System
Interleukin-36 pathway
Interleukin-38 signaling

Biological Process

inflammatory response
cellular defense response
signal transduction
cytokine-mediated signaling pathway
positive regulation of interleukin-6 production

Molecular Function

interleukin-1 receptor activity
interleukin-1, type I, activating receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000264257
Coding exons: 11
Length: 53030
Individuals with no LoFs: 125580
Homozygous LoFs: 2
Heterozygous LoFs: 166
Defined: 125748
p: 0.000668

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.436	303	325	0.932	0.0000174	3759
Missense (PolyPhen)		82	84.176	0.97415		1016
Synonymous	-1.71	154	129	1.19	0.00000791	1086
Loss of Function	1.61	21	30.6	0.687	0.00000162	360

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00062	0.00062	rare
Latino/Admixed American	0.00042	0.00040	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00029	0.00029	rare
South Asian	0.0035	0.0034	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for interleukin-36 (IL36A, IL36B and IL36G). After binding to interleukin-36 associates with the coreceptor IL1RAP to form the interleukin-36 receptor complex which mediates interleukin-36-dependent activation of NF-kappa-B, MAPK and other pathways (By similarity). The IL-36 signaling system is thought to be present in epithelial barriers and to take part in local inflammatory response; it is similar to the IL-1 system. Seems to be involved in skin inflammatory response by induction of the IL- 23/IL-17/IL-22 pathway. {ECO:0000250|UniProtKB:Q9ERS7, ECO:0000269|PubMed:11466363}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.900
RVIS EVS: -0.17
RVIS percentile EVS: 40.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0684

Gene Damage Prediction

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