Information on IL21
Basic details
Alt. symbols: Za11 | IL-21
Approved name: interleukin 21
Alt. names: interleukin21 | interleukin21 isoform
Location: 4q27: 122610108 - 122621066 (-)
Gene type: protein_coding, 3 transcripts.
Scores: LoFtool: 0.310000 | pLI: 0.50219058 | LOEUF: 0.643
Normal function
Dysfunction and disease
?Immunodeficiency, common variable, 11 [MIM:615767] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CVID11 |
Immunodeficiency, common variable, 11 | AR |
615767 |
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 IL21
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000648588.1 | 1 | CCDS3727 | Select | protein_coding | 5 | Yes | 3146 | NM_021803 |
| 201 | ENST00000611104.2 | CCDS75189 | protein_coding | 4 | No | 579 | NM_001207006 |
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 IL21
| ID | Year | Title | Journal | PMID | Variants |
|---|