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: 57538
MIM: 617608
HGNC: 17574
Ensembl: ENSG00000136383
Variants:
dbSNP: 57538
ClinVar: 57538
TCGA: ENSG00000136383
COSMIC: ALPK3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000136383 | ENST00000258888 | Q96L96 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35510648 | 2022 | MicroRNA-384-5p protects against cardiac hypertrophy via the ALPK3 signaling pathway. | 2 |
| 36321451 | 2022 | Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere. | 6 |
| 35510648 | 2022 | MicroRNA-384-5p protects against cardiac hypertrophy via the ALPK3 signaling pathway. | 2 |
| 36321451 | 2022 | Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere. | 6 |
| 34263907 | 2021 | Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. | 29 |
| 34263907 | 2021 | Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. | 29 |
| 32480058 | 2020 | Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. | 17 |
| 33076350 | 2020 | Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants. | 17 |
| 33191771 | 2020 | A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy. | 7 |
| 32480058 | 2020 | Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. | 17 |
| 33076350 | 2020 | Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants. | 17 |
| 33191771 | 2020 | A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy. | 7 |
| 31074094 | 2019 | Phenotypic spectrum of ALPK3-related cardiomyopathy. | 17 |
| 31074094 | 2019 | Phenotypic spectrum of ALPK3-related cardiomyopathy. | 17 |
| 30046096 | 2018 | Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. | 13 |
Citation
Dessen P
ALPK3 (alpha kinase 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60266/alpk3-(alpha-kinase-3)
