ITK |
Gene Facts External Data Attribution
- HGNC Symbol
- ITK (HGNC:6171) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- IL2 inducible T cell kinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- EMT, PSCTK2, LYK
- %HI
- 25.39(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.71(Read more about gnomAD LOEUF score)
- Cytoband
- 5q33.3
- Genomic Coordinates
-
GRCh37/hg19: chr5:156607851-156682195 NCBI Ensembl UCSC GRCh38/hg38: chr5:157180840-157255185 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005546.4 ENST00000422843.8 (Read more about MANE Select)
- Function
- Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activat... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34912
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Assoc. with Reduced Penetrance:
Under Group Review
All the patients cited had child-onset disease.
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)