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Gene

ITK

IL2 inducible T cell kinase

Summary

Cytogenetic location
5q33.3
Coordinates
Chromosome 5: 157,180,840–157,255,185 (GRCh38)
Exons
17 exons across 74.3 kb
Protein
620 amino acids
Also known as
EMT, PSCTK2, LYK
MANE Select transcript
ENST00000422843.8NM_005546.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Other Inborn Errors of Immunity

      • Inborn error of immunity

        One of 114 genes linked to it

        Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
      • Immunodeficiency Disease

        One of 170 genes linked to it

        Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

    How ITK is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 5, with a bracket where ITK sits. ITK and 14 genes near it on chromosome 5, from 156,718,013 to 157,718,012.Chromosome 55q33.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3156.8 Mb157 Mb157.2 Mb157.4 Mb157.6 MbSGCD: 155,870,344–156,767,788, forward strandSGCDPPP1R2B: 156,850,295–156,852,528, forward strandPPP1R2BTIMD4: 156,918,639–156,963,230, reverse strandTIMD4HAVCR1: 157,025,939–157,069,396, reverse strandHAVCR1HAVCR2: 157,085,422–157,142,869, reverse strandHAVCR2MED7: 157,134,848–157,159,019, reverse strandMED7GARIN3: 157,161,846–157,166,264, reverse strandGARIN3ITK: 157,180,840–157,255,185, forward strandITKCYFIP2: 157,266,079–157,395,595, forward strandCYFIP2: 157,341,596–157,460,100, reverse strandFNDC9: 157,341,598–157,345,766, reverse strandFNDC9ADAM19: 157,395,534–157,575,858, reverse strandADAM19NIPAL4: 157,460,213–157,474,723, forward strandNIPAL4SOX30: 157,624,798–157,671,480, reverse strandSOX30C5orf52: 157,671,515–157,680,174, forward strandC5orf52Diagram of ITK: 17 exons on the forward strand of chromosome 5Exon 1: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 1: 157,180,840–157,181,115, 276 basesExon 2: 157,208,889–157,208,993, 105 basesExon 3: 157,211,287–157,211,368, 82 basesExon 4: 157,214,191–157,214,319, 129 basesExon 5: 157,217,867–157,217,907, 41 basesExon 6: 157,222,863–157,223,014, 152 basesExon 7: 157,228,296–157,228,361, 66 basesExon 8: 157,232,340–157,232,394, 55 basesExon 9: 157,238,109–157,238,191, 83 basesExon 10: 157,240,062–157,240,195, 134 basesExon 11: 157,241,646–157,241,720, 75 basesExon 12: 157,243,623–157,243,794, 172 basesExon 13: 157,244,262–157,244,478, 217 basesExon 14: 157,245,726–157,245,790, 65 basesExon 15: 157,245,881–157,245,999, 119 basesExon 16: 157,248,850–157,249,007, 158 basesExon 17: 157,252,607–157,255,185, 2,579 bases1246810121416175′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 4.5 kb of the gene's 74.3 kb; 1,863 of those bases code for the protein.

    How a genome test reads ITK

    18

    positions in ITK where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 74.3 kb of ITK, introns included, not only the 4.5 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). ITK gene: IL2 inducible T cell kinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/itk

    Vancouver

    Dante Labs. ITK gene: IL2 inducible T cell kinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/itk

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