IFNAR2

interferon alpha and beta receptor subunit 2, the group of Interferon receptors

Basic information

Region (hg38): 21:33205282-33265675

Previous symbols: [ "IFNABR" ]

Links

ENSG00000159110

∙ NCBI:3455 ∙ OMIM:602376 ∙ HGNC:5433 ∙ Uniprot:P48551 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

immunodeficiency 45 (Strong), mode of inheritance: AR
immunodeficiency 45 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Immunodeficiency 45	AR	Allergy/Immunology/Infectious	Individuals have immunodeficiency, and related adverse reactions to vaccinations have been reported such that awareness may help prevent morbidity	Allergy/Immunology/Infectious	26424569

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IFNAR2 gene.

not provided (8 variants)
Immunodeficiency 45 (3 variants)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNAR2 gene is commonly pathogenic or not. These statistics are base on trasncript: . 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				73 clinvar	7 clinvar	80
missense			118 clinvar	6 clinvar	6 clinvar	130
nonsense	2 clinvar					2
start loss						0
frameshift	6 clinvar		1 clinvar			7
splice donor/acceptor (+/-2bp)		2 clinvar	1 clinvar			3
Total	8	2	120	79	13

Highest pathogenic variant AF is 0.0000525811

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFNAR2	protein_coding	protein_coding	ENST00000342136	8	35775

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000853	0.776	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.258	265	277	0.956	0.0000141	3411
Missense in Polyphen		86	105.39	0.81604		1325
Synonymous	0.135	110	112	0.984	0.00000668	967
Loss of Function	1.22	10	15.1	0.662	7.16e-7	204

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000644	0.000642
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000134	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Associates with IFNAR1 to form the type I interferon receptor. Receptor for interferons alpha and beta. Involved in IFN-mediated STAT1, STAT2 and STAT3 activation (PubMed:26424569). Isoform 1 and isoform 2 are directly involved in signal transduction due to their association with the TYR kinase, JAK1 (PubMed:8181059, PubMed:7665574, PubMed:7759950). Isoform 3 is a potent inhibitor of type I IFN receptor activity (PubMed:7759950). {ECO:0000269|PubMed:10049744, ECO:0000269|PubMed:11682488, ECO:0000269|PubMed:12105218, ECO:0000269|PubMed:26424569, ECO:0000269|PubMed:7665574, ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059}.;
Disease: DISEASE: Immunodeficiency 45 (IMD45) [MIM:616669]: An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. {ECO:0000269|PubMed:26424569}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Influenza A - Homo sapiens (human);Necroptosis - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Measles - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);JAK-STAT-Core;Regulation of toll-like receptor signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;The human immune response to tuberculosis;Interferon type I signaling pathways;Toll-like Receptor Signaling Pathway;ifn alpha signaling pathway;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;Immune System;IFN alpha signaling;JAK STAT MolecularVariation 2;bone remodeling;JAK STAT pathway and regulation;Regulation of IFNA signaling;Interferon alpha/beta signaling;Downstream signaling in naïve CD8+ T cells;Interferon Signaling;Regulation of Telomerase (Consensus)

Recessive Scores

pRec: 0.318

Intolerance Scores

loftool: 0.915
rvis_EVS: 0.16
rvis_percentile_EVS: 64.82

Haploinsufficiency Scores

pHI: 0.0738
hipred: Y
hipred_score: 0.539
ghis: 0.505

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.836

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ifnar2
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; neoplasm; immune system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: cell surface receptor signaling pathway;JAK-STAT cascade;response to virus;cytokine-mediated signaling pathway;response to interferon-alpha;response to interferon-beta;defense response to virus;type I interferon signaling pathway;regulation of type I interferon-mediated signaling pathway
Cellular component: extracellular region;plasma membrane;integral component of plasma membrane
Molecular function: cytokine receptor activity;type I interferon receptor activity;protein binding;protein kinase binding