KATNB1

Chr 16AR

katanin regulatory subunit B1

Also known as: KAT, LIS6

NCBI Gene: 10300ENSG00000140854UniProt: Q9BVA0OMIM: 602703

The KATNB1 gene encodes the p80 regulatory subunit of katanin, a microtubule-severing enzyme where the p80 subunit targets the enzyme to the centrosome while the p60 subunit performs the ATPase-dependent microtubule severing. Biallelic mutations cause lissencephaly 6 with microcephaly, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted microtubule dynamics affecting neuronal migration and brain development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.611 OMIM phenotype
Clinical Summary— KATNB1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
34 unique Pathogenic / Likely Pathogenic· 152 VUS of 465 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.61LOEUF
pLI 0.000
Z-score 3.45
OE 0.40 (0.26–0.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.64Z-score
OE missense 0.78 (0.71–0.85)
345 obs / 441.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.40 (0.26–0.61)
0≤0.351.4
Missense OE0.78 (0.71–0.85)
0≤0.61.4
Synonymous OE0.99
0≤1.21.6
LoF obs/exp: 15 / 37.9Missense obs/exp: 345 / 441.7Syn Z: 0.07

ClinVar Variant Classifications

465 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic6
VUS152
Likely Benign194
Benign52
Conflicting13
28
Pathogenic
6
Likely Pathogenic
152
VUS
194
Likely Benign
52
Benign
13
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
4
18
0
28
Likely Pathogenic
3
0
3
0
6
VUS
0
133
18
1
152
Likely Benign
0
19
85
90
194
Benign
0
3
39
10
52
Conflicting
—13
Total9159163101445

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KATNB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Mediterranean diet protects against a neuroinflammatory cortical transcriptome: Associations with brain volumetrics, peripheral inflammation, social isolation, and anxiety in nonhuman primates (Macaca fascicularis).
Frye BM et al.·Brain Behav Immun
2024
Mediterranean Diet Protects Against a Neuroinflammatory Cortical Transcriptome: Associations with Brain Volumetrics, Peripheral Inflammation, Social Isolation and Anxiety.
Negrey JD et al.·bioRxiv
2023
The katanin A-subunits KATNA1 and KATNAL1 act co-operatively in mammalian meiosis and spermiogenesis to achieve male fertility
Dunleavy JEM et al.·Development
2023
The Challenge of Somatic Variants in Focal Cortical Dysplasia.
Jesus-Ribeiro J et al.·Innov Clin Neurosci
2023
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
Peluso F et al.·Genes (Basel)
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients