Information on IL2RA
Basic details
Alt. symbols: IL2R | IDDM10 | CD25
Approved name: interleukin 2 receptor subunit alpha
Alt. names: insulin-dependent diabetes mellitus 10, interleukin 2 receptor, alpha
Location: 10p15.1: 6010689 - 6062370 (-)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.493000 | pLI: 0.88128872 | LOEUF: 0.658
Normal function
Dysfunction and disease
Immunodeficiency 41 with lymphoproliferation and autoimmunity [MIM:606367] | {Diabetes, mellitus, insulin-dependent, susceptibility to, 10} [MIM:601942] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD41 |
Immunodeficiency 41 with lymphoproliferation and autoimmunity | AR |
606367 |
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 IL2RA
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000447847.2 | protein_coding | No | 326 | NM_001308243 | ||||
| 202 | ENST00000379954.5 | CCDS76281 | protein_coding | 7 | No | 1562 | NM_001308242 | ||
| 203 | ENST00000379959.8 | 1 | CCDS7076 | Select | protein_coding | 8 | Yes | 3218 | NM_000417 |
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 IL2RA
| ID | Year | Title | Journal | PMID | Variants |
|---|