Information on ITK
Alt. symbols: EMT | PSCTK2 | LYK
Approved name: IL2 inducible T cell kinase
Alt. names: IL2-inducible T-cell kinase, IL2 inducible T-cell kinase
Location: 5q33.3: 157142933 - 157255185 (+)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: 0.261000 | pLI: 0.00001496 | LOEUF: 0.712
Gene Ontology (GO)
- Molecular function: non-membrane spanning protein tyrosine kinase activity [GO:0004715]
- Cell component:
- Biological process: adaptive immune response [GO:0002250]; B cell receptor signaling pathway [GO:0050853]; T cell receptor signaling pathway [GO:0050852]; NK T cell differentiation [GO:0001865]
Normal function
Dysfunction and disease
Lymphoproliferative syndrome 1 [MIM:613011] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
LPFS1 |
Lymphoproliferative syndrome 1 | AR |
613011 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of ITK
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000422843.8 | 1 | CCDS4336 | Select | protein_coding | 17 | Yes | 4508 | NM_005546 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 ITK
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|