Gene Gene information from NCBI Gene database.
Entrez ID 3454
Gene name Interferon alpha and beta receptor subunit 1
Gene symbol IFNAR1
Synonyms (NCBI Gene)
AVPIFN-alpha-RECIFNARIFNBRIFRCIMD106
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
miRNA miRNA information provided by mirtarbase database.
1075
miRTarBase ID miRNA Experiments Reference
MIRT027659 hsa-miR-98-5p Microarray 19088304
MIRT670869 hsa-miR-483-5p HITS-CLIP 23313552
MIRT670861 hsa-miR-411-5p HITS-CLIP 23313552
MIRT670868 hsa-miR-4781-3p HITS-CLIP 23313552
MIRT670867 hsa-miR-4716-5p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
PARP1 Unknown 19501422
STAT3 Activation 18550668
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0004904 Function Interferon receptor activity IEA
GO:0004905 Function Type I interferon receptor activity IBA
GO:0004905 Function Type I interferon receptor activity IDA 7665574, 7813427, 21854986
GO:0004905 Function Type I interferon receptor activity IEA
GO:0004905 Function Type I interferon receptor activity IMP 31270247, 33252644, 35442418
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107450 5432 ENSG00000142166
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17181
Protein name Interferon alpha/beta receptor 1 (IFN-R-1) (IFN-alpha/beta receptor 1) (Cytokine receptor class-II member 1) (Cytokine receptor family 2 member 1) (CRF2-1) (Type I interferon receptor 1)
Protein function Together with IFNAR2, forms the heterodimeric receptor for type I interferons (including interferons alpha, beta, epsilon, omega and kappa) (PubMed:10049744, PubMed:14532120, PubMed:15337770, PubMed:2153461, PubMed:21854986, PubMed:24075985, Pub
PDB 3S98 , 3SE3 , 3SE4 , 4PO6 , 8Y31
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01108 Tissue_fac 4 115 Tissue factor Family
PF09294 Interfer-bind 126 224 Interferon-alpha/beta receptor, fibronectin type III Domain
PF09294 Interfer-bind 330 430 Interferon-alpha/beta receptor, fibronectin type III Domain
Tissue specificity TISSUE SPECIFICITY: IFN receptors are present in all tissues and even on the surface of most IFN-resistant cells. Isoform 1, isoform 2 and isoform 3 are expressed in the IFN-alpha sensitive myeloma cell line U266B1. Isoform 2 and isoform 3 are expressed i
Sequence
MMVVLLGATTLVLVAVAPWVLSAAAGGKNLKSPQKVEVDIIDDNFILRWNRSDESVGNVT
FSFDYQKTGMDNWIKLSGCQNITSTKCNFSSLKLNVYEEIKLRIRAEKENTSSWY
EVDSF
TPFRKAQIGPPEVHLEAEDKAIVIHISPGTKDSVMWALDGLSFTYSLVIWKNSSGVEERI
ENIYSRHKIYKLSPETTYCLKVKAALLTSWKIGVYSPVHCIKTT
VENELPPPENIEVSVQ
NQNYVLKWDYTYANMTFQVQWLHAFLKRNPGNHLYKWKQIPDCENVKTTQCVFPQNVFQK
GIYLLRVQASDGNNTSFWSEEIKFDTEIQAFLLPPVFNIRSLSDSFHIYIGAPKQSGNTP
VIQDYPLIYEIIFWENTSNAERKIIEKKTDVTVPNLKPLTVYCVKARAHTMDEKLNKSSV
FSDAVCEKTK
PGNTSKIWLIVGICIALFALPFVIYAAKVFLRCINYVFFPSLKPSSSIDE
YFSEQPLKNLLLSTSEEQIEKCFIIENISTIATVEETNQTDEDHKKYSSQTSQDSGNYSN
EDESESKTSEELQQDFV
Sequence length 557
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
Hepatitis B
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.).
14
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 106, susceptibility to viral infections Likely pathogenic; Pathogenic rs965885404, rs201609461, rs2516887030, rs34849215 RCV005361905
RCV002260524
RCV003331968
RCV005392721
★★★★☆
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
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 29848382, 33804025, 34108016
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Stimulate 33452865
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 25880754
★☆☆☆☆
Found in Text Mining only
Asthma Associate 24475887
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Associate 24023707
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Associate 24136464
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 24023707
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 19893992
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 19893992, 29713327, 35985475
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 35836806, 39457004
★☆☆☆☆
Found in Text Mining only