Information on IFNAR2
Basic details
Alt. symbols: IFNABR
Approved name: interferon alpha and beta receptor subunit 2
Alt. names: interferon (alpha, beta and omega) receptor 2 | interferon alpha/beta receptor 2, IFNalpha/beta receptor subunit 2, type I interferon receptor 2
Location: 21q22.11: 33205282 - 33265675 (+)
Gene type: protein_coding, 14 transcripts.
Scores: LoFtool: 0.915000 | pLI: 0.00506603 | LOEUF: 1.122
Normal function
The IFNAR2 gene encodes for the interferon-alpha/beta receptor beta chain, 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 activate the signaling pathways involved in the immune response to viral infections by phosphorylating several proteins, such as STAT1 and STAT2.
Dysfunction and disease
Biallelic mutations in IFNAR2 determine an autosomal recessive and severe form of immunodeficiency (Immunodeficiency 45). Moreover, certain variants in the gene have been associated with increased susceptibility to Hepatitis B virus infections. Dysfunction of IFNAR2 leads to impaired type I interferon responses after stimulation, and increased susceptibility to viral infections. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2023-07-13 12:15:49]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD45 |
Immunodeficiency 45 | AR |
Loss of Function | 616669 |
0 (0 fams) |
| HBVS2 |
Susceptibility to Hepatitis B virus, 2 | AD/AR |
610424 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of IFNAR2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000342136.9 | CCDS13621 | Select | protein_coding | 9 | Yes | 4074 | NM_001289125,NM_001385055,NM_207585 | |
| 201 | ENST00000342101.7 | CCDS74782 | protein_coding | 8 | No | 2606 | NM_001289126,NM_001289128 | ||
| 205 | ENST00000404220.7 | CCDS13622 | protein_coding | 9 | No | 4284 | NM_000874,NM_001385054,NM_207584 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in IFNAR2
| ID | Year | Title | Journal | PMID | Variants |
|---|