Gene
ALPK3
alpha kinase 3
- HGNC 17574↗(opens in a new tab)
- Ensembl gene ENSG00000136383↗(opens in a new tab)
- NCBI Gene 57538↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q25.3
- Coordinates
- Chromosome 15: 84,817,356–84,873,479 (GRCh38)
- Exons
- 14 exons across 56.1 kb
- Protein
- 1,705 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- MAK, KIAA1330, Midori
- MANE Select transcript
- ENST00000258888.6NM_020778.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How ALPK3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.2 kb of the gene's 56.1 kb; 5,118 of those bases code for the protein.
How a genome test reads ALPK3
83
positions in ALPK3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 56.1 kb of ALPK3, introns included, not only the 10.2 kb of exons.
Genes linked to the same conditions
- ACADVLacyl-CoA dehydrogenase very long chainShares 1 condition
- ACTC1actin alpha cardiac muscle 1Shares 1 condition
- BRAFB-Raf proto-oncogene, serine/threonine kinaseShares 1 condition
- CDKN1Ccyclin dependent kinase inhibitor 1CShares 1 condition
- CSRP3cysteine and glycine rich protein 3Shares 1 condition
- DHHdesert hedgehog signaling moleculeShares 1 condition
- DHX37DEAH-box helicase 37Shares 1 condition
- DMPKDM1 protein kinaseShares 1 condition
- ERFETS2 repressor factorShares 1 condition
- ETFAelectron transfer flavoprotein subunit alphaShares 1 condition
- ETFBelectron transfer flavoprotein subunit betaShares 1 condition
- ETFDHelectron transfer flavoprotein dehydrogenaseShares 1 condition
Traits linked to ALPK3
The Human Phenotype Ontology lists these as features of the rare conditions ALPK3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Concentric hypertrophic cardiomyopathy
- Enlarged and thickened heart muscle
- Enlarged heart
- Impaired myocardial contractility
- Left atrial enlargement
- Left ventricular diastolic dysfunction
- Left ventricular dilatation
- Left ventricular hypertrophy
Show 24 more traits
- Mildly reduced left ventricular ejection fraction
- Mitral regurgitation
- Moderately reduced left ventricular ejection fraction
- Patent foramen ovale
- Persistent left superior vena cava
- Right atrial enlargement
- Right ventricular dilatation
- Severely reduced left ventricular ejection fraction
- Stretched and thinned heart muscle
- Stroke
- Tricuspid regurgitation
- Ventricular septal hypertrophy
- Right ventricular hypertrophy
- Biventricular hypertrophy
- Prolonged QTc interval
- Extra heart beat
- Paroxysmal ventricular tachycardia
- Prolonged PR interval
- Prolonged QRS complex
- Second degree atrioventricular block
- Shortened PR interval
- Sinus bradycardia
- Sinus tachycardia
- Ventricular fibrillation
Abnormality of the musculoskeletal system
- Distal arthrogryposis
- Elbow contracture
- Funnel chest
- Missing part of vertebrae
- Stiff knee
- Central core regions in muscle fibers
- Kyphoscoliosis
- Low muscle tone
Show 3 more traits
Abnormality of head or neck
- Broad forehead
- Full cheeks
- Long philtrum
- Submucous cleft palate
- Webbed neck
- Cystic hygroma
- High palate
- Little lower jaw
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ALPK3 gene: alpha kinase 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/alpk3
Dante Labs. ALPK3 gene: alpha kinase 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alpk3
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