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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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KATNIP
katanin interacting protein
Chromosome 16 Β· 16p12.1
NCBI Gene: 23247Ensembl: ENSG00000047578.15HGNC: HGNC:29068UniProt: O60303
24PubMed Papers
21Diseases
0Drugs
42Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmicrotubule bindingtubulin bindingintraciliary transport particle B bindingJoubert syndromeciliopathypreeclampsiaadolescent idiopathic scoliosis
✦AI Summary

KATNIP (katanin-interacting protein, also known as KIAA0556) is a scaffold protein that regulates primary cilia formation and length through its interaction with ciliogenesis-associated kinase 1 (CILK1) 1. At the basal body, KATNIP binds CILK1 through its domain of unknown function (DUF), drastically elevating CILK1 protein levels and enabling the critical TDY phosphorylation required for CILK1 activation 1. This enhanced CILK1 activation increases phosphorylation of downstream substrates, suppressing cilia elongation and controlling ciliation frequency 2. KATNIP also interacts with the microtubule-severing katanin complex, suggesting a role in microtubule dynamics at the ciliary base 3. Pathogenic KATNIP variants cause Joubert syndrome 26, a ciliopathy characterized by cerebellar malformation and multi-systemic involvement 4. Disease variants exhibit loss-of-function phenotypes: truncated variants bind CILK1 but fail to support its activation and cilia length restriction 2. Notably, KATNIP-associated Joubert syndrome often lacks the classical molar tooth sign and presents with variable phenotypes including pituitary abnormalities, renal disease, esophageal atresia, and eye involvement 45. Recent evidence also links KATNIP defects to syndromic inherited retinal diseases 6, expanding its clinical relevance beyond classical ciliopathies.

Sources cited
1
KATNIP is a scaffold protein that binds CILK1 at the basal body and potentiates CILK1 activation and function to control cilia length
PMID: 37665596
2
Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia; KATNIP residues 1524-1573 are essential for CILK1 activation
PMID: 40621737
3
KATNIP (KIAA0556) is a ciliary basal body protein that binds microtubules and interacts with katanin complex; null mutations cause Joubert syndrome
PMID: 26714646
4
KATNIP variants cause Joubert syndrome with variable phenotypes including multi-systemic organ involvement and cases without classical molar tooth sign
PMID: 36580738
5
KATNIP-related Joubert syndrome expands the clinical phenotypic spectrum, with common features including pituitary abnormalities and esophageal atresia
PMID: 40428346
6
KATNIP pathogenic variants are associated with syndromic inherited retinal diseases presenting with kidney disease and IRD without other Joubert syndrome features
PMID: 40725402
7
KATNIP regulation of CILK1 variants is compromised, impairing primary cilia maintenance and Hedgehog signaling
PMID: 38798407
Disease Associationsβ“˜21
Joubert syndromeOpen Targets
0.69Moderate
ciliopathyOpen Targets
0.45Moderate
preeclampsiaOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.26Weak
gastritisOpen Targets
0.24Weak
benign chondrogenic neoplasmOpen Targets
0.24Weak
schizophreniaOpen Targets
0.24Weak
Joubert syndrome 1Open Targets
0.12Weak
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
Hydrocephalus with stenosis of the aqueduct of SylviusOpen Targets
0.05Suggestive
megalencephaly, autosomal dominantOpen Targets
0.05Suggestive
colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndromeOpen Targets
0.05Suggestive
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndromeOpen Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.04Suggestive
hydrocephalus, congenital communicating, 1Open Targets
0.04Suggestive
Craniosynostosis - Dandy-Walker malformation - hydrocephalusOpen Targets
0.04Suggestive
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeOpen Targets
0.04Suggestive
craniofacial conodysplasiaOpen Targets
0.04Suggestive
X-linked hydrocephalus with stenosis of the aqueduct of SylviusOpen Targets
0.04Suggestive
Upper limb defect - eye and ear abnormalitiesOpen Targets
0.04Suggestive
Joubert syndrome 26UniProt
Pathogenic Variants42
NM_015202.5(KATNIP):c.2373del (p.Asp791fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 791
NM_015202.5(KATNIP):c.27dup (p.Glu10fs)Pathogenic
See cases|not provided|Joubert syndrome 26
β˜…β˜…β˜†β˜†2025β†’ Residue 10
NM_015202.5(KATNIP):c.19C>T (p.Arg7Ter)Pathogenic
Joubert syndrome 26|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 7
NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)Pathogenic
not provided|KATNIP-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 930
NM_015202.5(KATNIP):c.808del (p.Ser270fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 270
NM_015202.5(KATNIP):c.3384del (p.Asp1129fs)Likely pathogenic
Joubert syndrome 26
β˜…β˜†β˜†β˜†2025β†’ Residue 1129
NM_015202.5(KATNIP):c.1287-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_015202.5(KATNIP):c.1389+2T>CLikely pathogenic
not provided|KATNIP-related disorder
β˜…β˜†β˜†β˜†2025
NM_015202.5(KATNIP):c.4295_4296del (p.Pro1432fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1432
NM_015202.5(KATNIP):c.3584del (p.Pro1195fs)Pathogenic
Joubert syndrome 26
β˜…β˜†β˜†β˜†2025β†’ Residue 1195
NM_015202.5(KATNIP):c.141-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_015202.5(KATNIP):c.2960del (p.Asp987fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 987
NM_015202.5(KATNIP):c.3973G>A (p.Gly1325Arg)Likely pathogenic
Joubert syndrome 26
β˜…β˜†β˜†β˜†2025β†’ Residue 1325
NM_015202.5(KATNIP):c.3976-2A>GLikely pathogenic
Joubert syndrome 26
β˜…β˜†β˜†β˜†2024
NM_015202.5(KATNIP):c.16_17del (p.Leu6fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 6
NM_015202.5(KATNIP):c.2914C>A (p.Pro972Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 972
NM_015202.5(KATNIP):c.1628G>A (p.Trp543Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 543
NM_015202.5(KATNIP):c.808+2T>CLikely pathogenic
Joubert syndrome 26
β˜…β˜†β˜†β˜†2024
NM_015202.5(KATNIP):c.809-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_015202.5(KATNIP):c.4531C>T (p.Arg1511Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1511
View on ClinVar β†—
Related Genes
KATNB1Protein interaction73%CILK1Co-mentioned in literature40%CSPP1Co-mentioned in literature20%KIAA0586Co-mentioned in literature20%KIF7Co-mentioned in literature20%CEP41Co-mentioned in literature20%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
69%
Lung
63%
Ovary
58%
Brain
42%
Liver
41%
Gene Interaction Network
Click a node to explore
KATNIPKATNB1CILK1CSPP1KIAA0586KIF7CEP41
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60303
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.60–0.82]
RankingsWhere KATNIP stands among ~20K protein-coding genes
  • #13,216of 20,598
    Most Researched24
  • #1,499of 5,498
    Most Pathogenic Variants42
  • #6,897of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedKATNIP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301500
1.00
2
Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia.
PMID: 40621737
J Cell Sci Β· 2025
0.90
3
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
PMID: 36580738
Clin Neurol Neurosurg Β· 2023
0.80
4
An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.
PMID: 39120290
Cells Β· 2024
0.70
5
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
PMID: 40725402
Genes (Basel) Β· 2025
0.60