Information on IFNGR2
Basic details
Alt. symbols: IFNGT1 | AF-1
Approved name: interferon gamma receptor 2
Alt. names: interferon gamma receptor 2 (interferon gamma transducer 1)
Location: 21q22.11: 33403413 - 33479348 (+)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: | pLI: 0.88128111 | LOEUF: 0.339
Normal function
Dysfunction and disease
Immunodeficiency 28, mycobacteriosis [MIM:614889] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD28 |
Immunodeficiency 28 | AR |
614889 |
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 IFNGR2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000381995.5 | CCDS82660 | protein_coding | 8 | No | 1742 | NM_001329128 | ||
| 201 | ENST00000290219.11 | 1 | CCDS33544 | Select | protein_coding | 7 | Yes | 1699 | NM_005534 |
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 | - | |
| 2017 | Di-/oligo-genic inheritance | 29106381 | Authors report a patient from a consanguineous family with disseminated Mycobacterium abscessus, S. viridians bacteremia, and CMV viremia, who carry a homozygous frameshift deletion in IFNGR2 (C266fs) and a homozygous deletion in IFNAR1 (c.*557GlueExt*46). |
| - | 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. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in IFNGR2
| ID | Year | Title | Journal | PMID | Variants |
|---|