Gene Gene information from NCBI Gene database.
Entrez ID 3455
Gene name Interferon alpha and beta receptor subunit 2
Gene symbol IFNAR2
Synonyms (NCBI Gene)
IFN-RIFN-R-2IFN-alpha-RECIFNABRIFNARBIMD45
Chromosome 21
Chromosome location 21q22.11
Summary The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several prote
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs2229207 T>A,C Risk-factor Missense variant, coding sequence variant
rs775739391 A>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
924
miRTarBase ID miRNA Experiments Reference
MIRT020448 hsa-miR-106b-5p Microarray 17242205
MIRT042241 hsa-miR-484 CLASH 23622248
MIRT721336 hsa-miR-3183 HITS-CLIP 19536157
MIRT721335 hsa-miR-4723-3p HITS-CLIP 19536157
MIRT721334 hsa-miR-6769b-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0004905 Function Type I interferon receptor activity IBA
GO:0004905 Function Type I interferon receptor activity IDA 7665574, 7759950, 10556041, 21854986
GO:0004905 Function Type I interferon receptor activity IEA
GO:0004905 Function Type I interferon receptor activity TAS 8798579
GO:0005515 Function Protein binding IPI 7665574, 9121453, 11046044, 16710296, 17923090, 21854986, 28165510, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602376 5433 ENSG00000159110
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48551
Protein name Interferon alpha/beta receptor 2 (IFN-R-2) (IFN-alpha binding protein) (IFN-alpha/beta receptor 2) (Interferon alpha binding protein) (Type I interferon receptor 2)
Protein function Together with IFNAR1, forms the heterodimeric receptor for type I interferons (including interferons alpha, beta, epsilon, omega and kappa) (PubMed:10049744, PubMed:10556041, PubMed:21854986, PubMed:26424569, PubMed:28165510, PubMed:32972995, Pu
PDB 1N6U , 1N6V , 2HYM , 2KZ1 , 2LAG , 3S8W , 3S9D , 3SE3 , 3SE4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01108 Tissue_fac 8 121 Tissue factor Family
PF09294 Interfer-bind 132 231 Interferon-alpha/beta receptor, fibronectin type III Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 3 is detected in the urine (at protein level) (PubMed:7759950, PubMed:8181059). Expressed in blood cells. Expressed in lymphoblastoid and fibrosarcoma cell lines. {ECO:0000269|PubMed:7588638, ECO:0000269|PubMed:7759950, ECO:000
Sequence
MLLSQNAFIFRSLNLVLMVYISLVFGISYDSPDYTDESCTFKISLRNFRSILSWELKNHS
IVPTHYTLLYTIMSKPEDLKVVKNCANTTRSFCDLTDEWRSTHEAYVTVLEGFSGNTTLF
S
CSHNFWLAIDMSFEPPEFEIVGFTNHINVMVKFPSIVEEELQFDLSLVIEEQSEGIVKK
HKPEIKGNMSGNFTYIIDKLIPNTNYCVSVYLEHSDEQAVIKSPLKCTLLP
PGQESESAE
SAKIGGIITVFLIALVLTSTIVTLKWIGYICLRNSLPKVLNFHNFLAWPFPNLPPLEAMD
MVEVIYINRKKKVWDYNYDDESDSDTEAAPRTSGGGYTMHGLTVRPLGQASATSTESQLI
DPESEEEPDLPEVDVELPTMPKDSPQQLELLSGPCERRKSPLQDPFPEEDYSSTEGSGGR
ITFNVDLNSVFLRVLDDEDSDDLEAPLMLSSHLEEMVDPEDPDNVQSNHLLASGEGTQPT
FPSPSSEGLWSEDAPSDQSDTSESDVDLGDGYIMR
Sequence length 515
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
Hepatitis C
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
  Interferon alpha/beta signaling
Regulation of IFNA signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 45 Pathogenic; Likely pathogenic rs775739391, rs1468003457, rs1312285586, rs1310889473 RCV000202387
RCV003992135
RCV001780204
RCV001780205
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Pathogenic; Likely pathogenic rs1312285586, rs1310889473 RCV001283730
RCV001283731
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Associated with severe COVID-19 disease association; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 28503979
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29848382 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 29230002
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 19473523
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 24023707 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 19957332
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma LHGDN 14980076
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 16106266, 17941012, 19401692 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 19957332
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 17697365, 21350947 Associate
★☆☆☆☆
Found in Text Mining only