Gene
KATNB1
katanin regulatory subunit B1
- HGNC 6217↗(opens in a new tab)
- Ensembl gene ENSG00000140854↗(opens in a new tab)
- NCBI Gene 10300↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q21
- Coordinates
- Chromosome 16: 57,735,770–57,757,244 (GRCh38)
- Exons
- 20 exons across 21.5 kb
- Protein
- 655 amino acids
- MANE Select transcript
- ENST00000379661.8NM_005886.3
- 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.
Read KATNB1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads KATNB1 yet. The test sequences your whole genome, so your data includes it all the same.
How KATNB1 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 2.6 kb of the gene's 21.5 kb; 1,968 of those bases code for the protein.
How a genome test reads KATNB1
6
positions in KATNB1 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 21.5 kb of KATNB1, introns included, not only the 2.6 kb of exons.
Traits linked to KATNB1
The Human Phenotype Ontology lists these as features of the rare conditions KATNB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Increased reflexes
- Motor delay
- Partial agenesis of the corpus callosum
- Simplified gyral pattern
- Ventriculomegaly
- 4-layered lissencephaly
Show 12 more traits
- Intellectual disability
- Microlissencephaly
- Degeneration of cerebellum
- Fewer and broader ridges in brain
- Profound global developmental delay
- Severe global developmental delay
- Abnormality of neuronal migration
- Agenesis of corpus callosum
- Periventricular heterotopia
- Underdevelopment of part of brain called corpus callosum
- Fewer or absent grooves in brain
- More grooves in brain
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.). KATNB1 gene: katanin regulatory subunit B1. Retrieved 16 October 2026, from https://dantelabs.com/genes/katnb1
Dante Labs. KATNB1 gene: katanin regulatory subunit B1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/katnb1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks