Information on IFNGR1
Basic details
Alt. symbols: IFNGR | CD119
Approved name: interferon gamma receptor 1
Alt. names: interferon gamma receptor 1 | AVP, type 2 | CD119 antigen | CDw119 | IFNgamma receptor 1 | IFNgammaRalpha | IFNgammaR1 | antiviral protein, type 2 | immune interferon receptor 1 | interferongamma receptor alpha chain
Location: 6q23.3: 137197483 - 137219449 (-)
Gene type: protein_coding, 19 transcripts.
Scores: LoFtool: 0.476000 | pLI: 0.32796903 | LOEUF: 0.700
Normal function
Dysfunction and disease
Immunodeficiency 27B, mycobacteriosis, AD [MIM:615978] | {Hepatitis B virus infection, susceptibility to} [MIM:610424] | {Tuberculosis, susceptibility to} [MIM:607948] | {Tuberculosis infection, protection against} [MIM:607948] | {H. pylori infection, susceptibility to} [MIM:600263] | Immunodeficiency 27A, mycobacteriosis, AR [MIM:209950] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD27B |
Immunodeficiency 27B | AD |
615978 |
0 (0 fams) | |
| IMD27A |
Immunodeficiency 27A | AR |
209950 |
0 (0 fams) | |
| TBS5 |
Mycobacterium tuberculosis, susceptibility to, 5 | AD/AR |
607948 |
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 IFNGR1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000367739.9 | 1 | CCDS5185 | Select | protein_coding | 7 | Yes | 2074 | NM_000416 |
| 210 | ENST00000646036.1 | CCDS87446 | protein_coding | 8 | No | 2183 | NM_001363526 | ||
| 202 | ENST00000414770.6 | protein_coding | No | 748 | XM_011535793 | ||||
| 207 | ENST00000644894.1 | CCDS87445 | protein_coding | 7 | No | 2492 | NM_001363527 | ||
| 211 | ENST00000646898.1 | CCDS87446 | protein_coding | 8 | No | 2519 | XM_006715470 |
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 | - | |
| 2010 | Uniparental disomy | 20186794 | |
| 1999 | Incomplete penetrance | 10192386 | |
| 2004 | Incomplete penetrance | 15589309 | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | 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 IFNGR1
| ID | Year | Title | Journal | PMID | Variants |
|---|