Gene Gene information from NCBI Gene database.
Entrez ID 5566
Gene name Protein kinase cAMP-activated catalytic subunit alpha
Gene symbol PRKACA
Synonyms (NCBI Gene)
CAFD1PKACAPPNAD4
Chromosome 19
Chromosome location 19p13.12
Summary This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dime
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs386352352 A>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs724160013 ->CAC Pathogenic Coding sequence variant, inframe insertion
miRNA miRNA information provided by mirtarbase database.
391
miRTarBase ID miRNA Experiments Reference
MIRT030635 hsa-miR-22-3p Sequencing 20371350
MIRT044041 hsa-miR-365a-3p CLASH 23622248
MIRT043455 hsa-miR-331-3p CLASH 23622248
MIRT043455 hsa-miR-331-3p CLASH 23622248
MIRT042660 hsa-miR-196b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
127
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0001669 Component Acrosomal vesicle IEA
GO:0001669 Component Acrosomal vesicle ISS
GO:0001707 Process Mesoderm formation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601639 9380 ENSG00000072062
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17612
Protein name cAMP-dependent protein kinase catalytic subunit alpha (PKA C-alpha) (EC 2.7.11.11)
Protein function Phosphorylates a large number of substrates in the cytoplasm and the nucleus (PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, PubMed:19949837, PubMed:20356841, PubMed:2108549
PDB 2GU8 , 3AGL , 3AGM , 3AMA , 3AMB , 3L9L , 3L9M , 3L9N , 3MVJ , 3NX8 , 3OOG , 3OVV , 3OWP , 3OXT , 3P0M , 3POO , 3VQH , 4AE6 , 4AE9 , 4UJ1 , 4UJ2 , 4UJ9 , 4UJA , 4UJB , 4WB5 , 4WB6 , 4WB7 , 4WB8 , 5BX6 , 5BX7 , 5IZF , 5IZJ , 5J5X , 5N23 , 5UZK , 6BYR , 6BYS , 6C0U , 6FRX , 6NO7 , 6QJ7 , 6WJF , 6WJG , 7Y1G , 8FE2 , 8FE5 , 8FEC , 8X5L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 44 298 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is ubiquitous. Isoform 2 is sperm-specific and is enriched in pachytene spermatocytes but is not detected in round spermatids. {ECO:0000269|PubMed:10906071, ECO:0000269|PubMed:21812984}.
Sequence
Sequence length 351
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ACTH-independent adrenal Cushing syndrome, somatic Likely pathogenic; Pathogenic rs386352352 RCV002508139
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenal cortex neoplasm Likely pathogenic; Pathogenic rs386352352 RCV006253780
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardioacrofacial dysplasia 1 Likely pathogenic; Pathogenic rs148280386 RCV001271119
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pigmented nodular adrenocortical disease, primary, 4 Pathogenic; Likely pathogenic rs724160013, rs386352352 RCV000149856
RCV000119834
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHOLANGIOCARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ELLIS VAN CREVELD SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations