Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 83473
MIM: 614697
HGNC: 25387
Ensembl: ENSG00000167216
Variants:
dbSNP: 83473
ClinVar: 83473
TCGA: ENSG00000167216
COSMIC: KATNAL2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38916997 | 2024 | Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. | 1 |
| 38916997 | 2024 | Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. | 1 |
| 34096614 | 2021 | Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia. | 4 |
| 34096614 | 2021 | Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia. | 4 |
| 22495311 | 2012 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | 932 |
| 23018867 | 2012 | Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia. | 26 |
| 22495311 | 2012 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | 932 |
| 23018867 | 2012 | Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia. | 26 |
Citation
Dessen P
KATNAL2 (katanin catalytic subunit A1 like 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64743/katnal2-(katanin-catalytic-subunit-a1-like-2)
