Gene
PRKACA
protein kinase cAMP-activated catalytic subunit alpha
- HGNC 9380↗(opens in a new tab)
- Ensembl gene ENSG00000072062↗(opens in a new tab)
- NCBI Gene 5566↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.12
- Coordinates
- Chromosome 19: 14,091,688–14,117,762 (GRCh38)
- Exons
- 10 exons across 26.1 kb
- Protein
- 351 amino acids
- Also known as
- PKACa
- MANE Select transcript
- ENST00000308677.9NM_002730.4
- 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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No Genome Test report reads PRKACA yet. The test sequences your whole genome, so your data includes it all the same.
How PRKACA 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 2.7 kb of the gene's 26.1 kb; 1,056 of those bases code for the protein.
How a genome test reads PRKACA
2
positions in PRKACA 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 26.1 kb of PRKACA, introns included, not only the 2.7 kb of exons.
Traits linked to PRKACA
The Human Phenotype Ontology lists these as features of the rare conditions PRKACA can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Knock knees
- Postaxial polydactyly
- Duplication of bones of the toes
- Extra finger
- Limb undergrowth
- Short outermost finger bone
- Smaller or shorter than typical limbs
- Capitate-hamate fusion
Show 2 more traits
Abnormality of the integument
- Abnormal fingernails
- Abnormality of the hair
- Abnormality of the nail
- Atypical nail growth
- Underdeveloped toenails
- Abnormal hair quantity
- Buffalo hump
- Excessive hairiness
Show 2 more traits
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormal heart valve morphology
- Hole in center of heart
- All organs on wrong side of body
- An opening in the wall separating the top two chambers of the heart
- Heart tip and four chambers point towards right side of body
- Hole in heart wall separating two lower heart chambers
- Complete atrioventricular canal defect
Show 1 more trait
Abnormality of the musculoskeletal system
- Narrow chest
- Shorter than typical length between neck and abdomen
- Abnormal shape of pelvic girdle bone
- Long rib cage
- Abnormality of the skeletal system
- Delayed bone maturation
- Osteopenia
- Osteoporosis
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.
- 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.). PRKACA gene: protein kinase cAMP-activated catalytic subunit alpha. Retrieved 16 October 2026, from https://dantelabs.com/genes/prkaca
Dante Labs. PRKACA gene: protein kinase cAMP-activated catalytic subunit alpha [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prkaca
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