KATNAL2: Katanin Catalytic Subunit A1 Like 2
A microtubule-severing ATPase implicated in neurodevelopment and ciliary function
Gene Information Card
| Symbol | KATNAL2 |
|---|---|
| Full Name | Katanin Catalytic Subunit A1 Like 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 83473 ncbi.nlm.nih.gov/gene/83473 |
| Ensembl ID | ENSG00000168314 |
| UniProt ID | Q8IYT4 |
| OMIM ID | 614697 |
| HGNC ID | 28444 |
| Aliases | FLJ10769, KATNA1L2 |
Description
KATNAL2 encodes a member of the katanin family of microtubule-severing ATPases. The protein localizes to centrosomes and cilia, where it regulates microtubule dynamics, cell division, and ciliary assembly. It is highly expressed in the brain and testis, and mutations are associated with neurodevelopmental disorders and primary ciliary dyskinesia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss-of-function mutations impair ciliary microtubule severing, leading to defective ciliary motility and mucociliary clearance | ClinVar, OMIM |
| Neurodevelopmental disorder with microcephaly and seizures | Homozygous missense variants disrupt ATPase activity, causing abnormal neuronal migration and cortical development | ClinVar, OMIM |
| Autism spectrum disorder | Rare de novo variants identified in ASD cohorts, possibly affecting synaptic microtubule dynamics | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 15.3 | Medium |
| Lung | 4.2 | Low |
| Kidney | 3.1 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HeLa (cervical carcinoma) | 6.2 | Epithelial |
| HEK293 (embryonic kidney) | 5.4 | Renal epithelial |
| A549 (lung carcinoma) | 3.9 | Lung epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Loss of ATPase activity; associated with neurodevelopmental disorder |
| c.1522G>A (p.Gly508Arg) | Missense | <0.01% | Impaired microtubule severing; linked to primary ciliary dyskinesia |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of protein; severe neurodevelopmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations that reduce or abolish ATPase activity and microtubule severing, leading to ciliary and neuronal defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule severing and reorganization (Reactome: R-HSA-983231)
• Cilium assembly (Reactome: R-HSA-5617833)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
KATNAL2 is a 60 kDa protein containing an AAA+ ATPase domain and a microtubule-interacting region. It forms a heterodimer with KATNB1 (katanin regulatory subunit) to sever microtubules, regulating spindle length, ciliary length, and neuronal migration. The protein is enriched in the brain and testis, and its dysfunction leads to ciliopathies and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KATNAL2 Knockout HEK293 Cell Line | EDJ-KQ9849 | Human | 83473 | Details Get a Quote |
| KATNAL2 Knockout A-549 Cell Line | EDJ-KQ36707 | Human | 83473 | Details Get a Quote |
| KATNAL2 Knockout HCT 116 Cell Line | EDJ-KQ36708 | Human | 83473 | Details Get a Quote |
| KATNAL2 Knockout HeLa Cell Line | EDJ-KQ57440 | Human | 83473 | Details Get a Quote |
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