Information on IL2RB
Basic details
Alt. symbols: IL15RB | CD122
Approved name: interleukin 2 receptor subunit beta
Alt. names: interleukin 15 receptor, beta, interleukin 2 receptor, beta
Location: 22q12.3: 37118666 - 37175118 (-)
Gene type: protein_coding, 22 transcripts.
Scores: LoFtool: 0.112000 | pLI: 0.98675658 | LOEUF: 0.496
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD63 |
Immunodeficiency 63 with lymphoproliferation and autoimmunity | AR |
618495 |
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 IL2RB
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000429622.6 | protein_coding | No | 569 | NM_001346223 | ||||
| 201 | ENST00000216223.10 | CCDS13942 | Select | protein_coding | 10 | Yes | 4034 | NM_000878 | |
| 205 | ENST00000453962.6 | protein_coding | No | 660 | NM_001346222 |
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 IL2RB
| ID | Year | Title | Journal | PMID | Variants |
|---|