HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KATNAL2
katanin catalytic subunit A1 like 2
Chromosome 18 · 18q21.1
NCBI Gene: 83473Ensembl: ENSG00000167216.19HGNC: HGNC:25387UniProt: K7EIJ8
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmspindlespindle poleneurodegenerative diseasegenetic disorderFamilial prostate cancerprostate cancer
✦AI Summary

KATNAL2 encodes a microtubule-severing ATPase belonging to the katanin family that catalyzes ATP-dependent microtubule severing to promote rapid reorganization of cellular microtubule arrays 1. The protein localizes to basal bodies, ciliary axonemes, centrioles, and mitotic spindles, where it functions in ciliogenesis, spindle assembly, and cytokinesis 2. During spermatogenesis, KATNAL2 works in partnership with delta tubulin and KATNB1 to regulate manchette remodeling and sperm head morphology 3. Disease relevance is substantial. Biallelic KATNAL2 mutations cause male infertility through oligo-astheno-teratozoospermia, characterized by defective sperm maturation, head morphology abnormalities, and flagellar structural defects 4. Heterozygous KATNAL2 variants associate with congenital hydrocephalus and autism spectrum disorder through disruption of primary cilia and ependymal planar cell polarity in fetal radial glia, impairing cerebrospinal fluid flow and neuronal connectivity 1. Mutations also cause amorphous sperm head morphology 5. Genome-wide association studies link KATNAL2 variants to conscientiousness personality traits 6, and altered KATNAL2 expression correlates with major depressive disorder-associated brain connectivity changes 7. Clinically, KATNAL2 mutations warrant genetic screening in male infertility and neurodevelopmental disorder patients, as they represent treatable genetic etiologies despite current symptomatic management limitations.

Sources cited
1
KATNAL2 is a microtubule-severing ATPase; pathogenic variants cause cerebral ventriculomegaly, autism, and ciliary dysfunction through impaired microtubule dynamics in radial glia and ependymal cells
PMID: 38916997
2
KATNAL2 partners with delta tubulin and KATNB1 in haploid spermatids to regulate manchette remodeling and sperm head morphology
PMID: 40586731
3
KATNAL2 is required for ciliogenesis and brain development; localizes to basal bodies, ciliary axonemes, centrioles, and mitotic spindles
PMID: 30096282
4
Biallelic KATNAL2 mutations cause male infertility with oligo-astheno-teratozoospermia phenotype; associated with defects in sperm maturation, head morphology, and flagellar structure
PMID: 34096614
5
KATNAL2 mutations cause amorphous sperm head morphology
PMID: 39417902
6
KATNAL2 variants associate with conscientiousness personality traits in genome-wide association studies
PMID: 21173776
7
Altered KATNAL2 expression correlates with higher-order brain structure-function coupling variations in major depressive disorder
PMID: 38971483
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
genetic disorderOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
azoospermiaOpen Targets
0.11Weak
partial chromosome Y deletionOpen Targets
0.10Suggestive
spermatogenic failure 65Open Targets
0.10Suggestive
spermatogenic failure 84Open Targets
0.09Suggestive
spermatogenic failure 93Open Targets
0.09Suggestive
spermatogenic failure 56Open Targets
0.09Suggestive
spermatogenic failure 92Open Targets
0.09Suggestive
spermatogenic failure 94Open Targets
0.09Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.09Suggestive
spermatogenic failure 72Open Targets
0.09Suggestive
spermatogenic failure 40Open Targets
0.09Suggestive
spermatogenic failure 54Open Targets
0.09Suggestive
spermatogenic failure 76Open Targets
0.09Suggestive
spermatogenic failure 80Open Targets
0.09Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.09Suggestive
spermatogenic failure 58Open Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSMD1Protein interaction100%PSMD12Protein interaction100%PSMD2Protein interaction100%ADRM1Protein interaction100%PSMA2Protein interaction100%PSMD4Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
83%
Bone Marrow
70%
Heart
61%
Ovary
56%
Lung
35%
Gene Interaction Network
Click a node to explore
KATNAL2PSMD1PSMD12PSMD2ADRM1PSMA2PSMD4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYT4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.61–1.09]
RankingsWhere KATNAL2 stands among ~20K protein-coding genes
  • #10,801of 20,598
    Most Researched36
  • #11,169of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedKATNAL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet · 2024
1.00
2
Pathogenic variants in autism gene
PMID: 38916997
Proc Natl Acad Sci U S A · 2024
0.90
3
Single-cell and multi-omics analysis identifies TRIM9 as a key ubiquitination regulator in pancreatic cancer.
PMID: 41050689
Front Immunol · 2025
0.80
4
Delta tubulin stabilizes male meiotic kinetochores and aids microtubule remodeling and fertility.
PMID: 40586731
J Cell Biol · 2025
0.70
5
Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos.
PMID: 30096282
Dev Biol · 2018
0.60