Hs04010431_cn

• Gene Symbol: PRKACA
• Assay Reference Genome Location: Chr.19:14094806 on build GRCh38
• Cytoband: 19p13.12

Target Gene Details

• Entrez Gene ID: 5566
• Gene Name: protein kinase cAMP-activated catalytic subunit alpha
• Gene Aliases: PKACA, PPNAD4
• Location: Chr.19:14091688-14117747 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRKACA	NM_001304349.1			NP_001291278.1
	NM_002730.3			NP_002721.1
	NM_207518.2			NP_997401.1
	XM_017026948.1			XP_016882437.1
	AK131561.1
	AK290147.1
	AK292284.1
	BC039846.1			AAH39846.1
	BC108259.1			AAI08260.1
	X07767.1			CAA30597.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv578645	Chr.19:14086937 - 14116789 on Build GRCh38	Loss	PRKACA SAMD1
nsv833761	Chr.19:13998659 - 14136778 on Build GRCh38	Loss	PRKACA IL27RA RFX1 MIR1199 C19orf67 RLN3 PALM3 ASF1B SAMD1 MISP3
nsv953980	Chr.19:14082589 - 14210288 on Build GRCh38	Deletion	PRKACA C19orf67 LOC100507373 ADGRL1 ASF1B SAMD1
dgv49n68	Chr.19:14066502 - 14274131 on Build GRCh38	Loss	PRKACA MIR1199 C19orf67 LOC100507373 ADGRL1 ASF1B SAMD1 MISP3
nsv828452	Chr.19:14059742 - 14148154 on Build GRCh38	Loss	PRKACA MIR1199 C19orf67 LOC100507373 ADGRL1 PALM3 ASF1B SAMD1 MISP3
nsv828454	Chr.19:14061711 - 14096781 on Build GRCh38	Gain	PRKACA MIR1199 C19orf67 PALM3 SAMD1 MISP3
nsv578642	Chr.19:14028192 - 14187630 on Build GRCh38	Gain	PRKACA IL27RA MIR1199 C19orf67 RLN3 LOC100507373 ADGRL1 PALM3 ASF1B SAMD1 MISP3

More Information

Additional Information:

For this assay, SNP(s) [rs114153875] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
mesoderm formation
neural tube closure
regulation of heart rate
stimulatory C-type lectin receptor signaling pathway
renal water homeostasis
mRNA processing
protein phosphorylation
blood coagulation
positive regulation of cell proliferation
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
peptidyl-serine phosphorylation
peptidyl-threonine phosphorylation
activation of protein kinase A activity
calcium-mediated signaling using intracellular calcium source
lipoprotein metabolic process
regulation of protein binding
regulation of cellular respiration
regulation of osteoblast differentiation
protein autophosphorylation
positive regulation of protein export from nucleus
sperm capacitation
negative regulation of meiotic cell cycle
regulation of cytosolic calcium ion concentration
regulation of synaptic transmission, glutamatergic
regulation of cardiac muscle contraction
regulation of ryanodine-sensitive calcium-release channel activity
regulation of proteasomal protein catabolic process
regulation of protein processing
positive regulation of cell cycle arrest
cellular response to glucose stimulus
cellular response to parathyroid hormone stimulus
cellular response to glucagon stimulus
cellular response to epinephrine stimulus
cell communication by electrical coupling involved in cardiac conduction
negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
regulation of cardiac conduction
regulation of bicellular tight junction assembly

Function(s)

protein serine/threonine kinase activity
cAMP-dependent protein kinase activity
protein serine/threonine/tyrosine kinase activity
protein binding
ATP binding
protein kinase binding
ubiquitin protein ligase binding
protein complex binding
protein kinase A regulatory subunit binding