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)