AtlasGene
KATNIP
katanin interacting protein
- HGNC 29068↗(opens in a new tab)
- Ensembl gene ENSG00000047578↗(opens in a new tab)
- NCBI Gene 23247↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p12.1
- Coordinates
- Chromosome 16: 27,550,144–27,780,344 (GRCh38)
- Exons
- 28 exons across 230.2 kb
- Protein
- 1,618 amino acids
- Also known as
- JBTS26
- Previous symbols
- KIAA0556
- MANE Select transcript
- ENST00000261588.10NM_015202.5
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Joubert Syndrome And Related Disorders
- Joubert Syndrome
A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.
- 2 GenCC submitters rate it definitive or strong
How KATNIP 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 6.6 kb of the gene's 230.2 kb; 4,857 of those bases code for the protein.
Sequencing KATNIP
1Low
How hard KATNIP is to sequence with short reads, out of 100Each bar is the share of KATNIP's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.0.5%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.7.7%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
19
positions in KATNIP 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 230.2 kb of KATNIP, introns included, not only the 6.6 kb of exons.
Genes linked to the same conditions
- AHI1Abelson helper integration site 1Shares 1 condition
- ARL13BARF like GTPase 13BShares 1 condition
- ARL3ARF like GTPase 3Shares 1 condition
- ARMC9armadillo repeat containing 9Shares 1 condition
- B9D1B9 domain containing 1Shares 1 condition
- B9D2B9 domain containing 2Shares 1 condition
- CC2D2Acoiled-coil and C2 domain containing 2AShares 1 condition
- CEP104centrosomal protein 104Shares 1 condition
- CEP120centrosomal protein 120Shares 1 condition
- CEP290centrosomal protein 290Shares 1 condition
- CEP41centrosomal protein 41Shares 1 condition
- CPLANE1ciliogenesis and planar polarity effector complex subunit 1Shares 1 condition
Traits linked to KATNIP
The Human Phenotype Ontology lists these as features of the rare conditions KATNIP can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cleft lip
- Cleft palate
- Decreased width of the skull
- Long face
- Cleft of the mouth
- Encephalocele
- Highly arched eyebrow
- Nasal tip, upturned
Show 3 more traits
Abnormality of the nervous system
- Cerebellar vermis hypoplasia
- Global developmental delay
- Ataxia
- Intellectual disability
- Abnormal gait
- Abnormality of neuronal migration
- Aplasia/Hypoplasia of the corpus callosum
- Epilepsy
Show 3 more traits
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.
- GenCC and ClinGen, released 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). KATNIP gene: katanin interacting protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/katnip
Dante Labs. KATNIP gene: katanin interacting protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/katnip
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