Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3455
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon alpha and beta receptor subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFNAR2
Synonyms (NCBI Gene) Gene synonyms aliases
IFN-R, IFN-R-2, IFN-alpha-REC, IFNABR, IFNARB, IMD45
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602376 5433 ENSG00000159110
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency immunodeficiency 45 rs775739391 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Lung adenocarcinoma Familial squamous cell lung carcinoma N/A N/A GWAS
Narcolepsy Narcolepsy N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27058892
Alzheimer Disease Associate 29848382
Autoimmune Diseases Associate 24023707
Calcinosis Cutis Associate 21350947
Carcinoma Hepatocellular Associate 16106266, 17941012, 19401692
Carcinoma Non Small Cell Lung Associate 35081872
Carcinoma Renal Cell Associate 17697365, 21350947
Colorectal Neoplasms Associate 31869529
Coronavirus Infections Associate 36927455
COVID 19 Associate 33259846, 33307546, 33837377, 33949668, 34183789, 34273592, 34823125, 34824360, 35212764, 35264675, 35442417, 35486090, 35659055, 35967349, 36127160
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