Hs07154485_cn

• Gene Symbol: CALM3
• Assay Reference Genome Location: Chr.19:46601571 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 808
• Gene Name: calmodulin 3
• Gene Aliases: HEL-S-72, PHKD, PHKD3
• Location: Chr.19:46601255-46610782 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CALM3	NM_005184.2			NP_005175.2
	BC005137.2			AAH05137.1
	BC006182.1			AAH06182.1
	BG753029.1
	FJ224310.1
	J04046.1			AAA51918.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833849	Chr.19:46558831 - 46703060 on Build GRCh38	Loss	PPP5D1 PRKD2 DACT3 GNG8 DACT3-AS1 PTGIR CALM3
nsv953589	Chr.19:46601544 - 46636643 on Build GRCh38	Deletion	GNG8 PTGIR CALM3

More Information

Additional Information:

For this assay, SNP(s) [rs184847124] 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 -

calmodulin-related

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
MAPK cascade
response to amphetamine
regulation of heart rate
platelet degranulation
detection of calcium ion
glycogen catabolic process
muscle contraction
G-protein coupled receptor signaling pathway
activation of adenylate cyclase activity
Wnt signaling pathway, calcium modulating pathway
positive regulation of peptidyl-threonine phosphorylation
negative regulation of peptidyl-threonine phosphorylation
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
substantia nigra development
regulation of rhodopsin mediated signaling pathway
positive regulation of cyclic nucleotide metabolic process
positive regulation of protein autophosphorylation
regulation of cytokinesis
positive regulation of phosphoprotein phosphatase activity
ion transmembrane transport
positive regulation of protein dephosphorylation
Fc-epsilon receptor signaling pathway
positive regulation of DNA binding
positive regulation of GTPase activity
inositol phosphate metabolic process
regulation of nitric-oxide synthase activity
positive regulation of nitric-oxide synthase activity
positive regulation of cyclic-nucleotide phosphodiesterase activity
response to corticosterone
response to calcium ion
regulation of cardiac muscle contraction
negative regulation of ryanodine-sensitive calcium-release channel activity
positive regulation of ryanodine-sensitive calcium-release channel activity
positive regulation of protein serine/threonine kinase activity
regulation of high voltage-gated calcium channel activity
regulation of cell communication by electrical coupling involved in cardiac conduction

Function(s)

Ras guanyl-nucleotide exchange factor activity
calcium ion binding
protein binding
adenylate cyclase binding
inositol-1,4,5-trisphosphate 3-kinase activity
ligand-gated ion channel activity
protein kinase binding
protein domain specific binding
nitric-oxide synthase regulator activity
titin binding
type 3 metabotropic glutamate receptor binding
thioesterase binding
N-terminal myristoylation domain binding
phospholipase binding
protein serine/threonine kinase activator activity
phosphatidylinositol 3-kinase binding
ion channel binding
calcium-dependent protein binding
nitric-oxide synthase binding
protein phosphatase activator activity