Gene
TONSL
tonsoku like, DNA repair protein
- HGNC 7801↗(opens in a new tab)
- Ensembl gene ENSG00000160949↗(opens in a new tab)
- NCBI Gene 4796↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q24.3
- Coordinates
- Chromosome 8: 144,428,775–144,444,440 (GRCh38)
- Exons
- 26 exons across 15.7 kb
- Protein
- 1,378 amino acids
- Also known as
- IKBR
- Previous symbols
- NFKBIL2
- MANE Select transcript
- ENST00000409379.8NM_013432.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TONSL yet. The test sequences your whole genome, so your data includes it all the same.
How TONSL is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 15.7 kb; 4,137 of those bases code for the protein.
How a genome test reads TONSL
22
positions in TONSL 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 15.7 kb of TONSL, introns included, not only the 4.5 kb of exons.
Traits linked to TONSL
The Human Phenotype Ontology lists these as features of the rare conditions TONSL can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Irregular wide portion of a long bone
- Broad wide portion of long bone
- Disproportionately short upper portion of limb
- Knock knees
- Limb undergrowth
- Metaphyseal striations
- Short fingers or toes
- Short neck of thighbone
Show 20 more traits
- Avascular necrosis of the capital femoral epiphysis
- Broad foot
- Broad palm
- Coxa vara
- Disproportionately short middle portion of limb
- Dropped arches
- Flared wide portion of long bone
- Flat end part of innermost thighbone
- Flattened end part of long bone in upper arm
- Hip dislocation
- Increased bone density of end part of the hand bones
- Left and right leg differ in length or width
- Limited elbow extension
- Osteopathia striata
- Partial hip dislocation
- Shallow acetabular fossae
- Short foot
- Short palm
- Delayed maturation of wrist bone
- Outward bow-leggedness
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). TONSL gene: tonsoku like, DNA repair protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/tonsl
Dante Labs. TONSL gene: tonsoku like, DNA repair protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tonsl
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