Hs04460854_cn

• Gene Symbol: ATP2C2
• Assay Reference Genome Location: Chr.16:84377256 on build GRCh38
• Cytoband: 16q24.1

Target Gene Details

• Entrez Gene ID: 9914
• Gene Name: ATPase secretory pathway Ca2+ transporting 2
• Gene Aliases: SPCA2
• Location: Chr.16:84368523-84465777 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2C2	NM_001286527.2			NP_001273456.2
	NM_014861.3			NP_055676.3
	AK300526.1
	AK316128.1
	AY791884.1			AAV54193.1
	BX648333.1			CAI46049.1
	CR749829.1			CAH18686.1
	DB218862.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv547e214	Chr.16:84253360 - 84417275 on Build GRCh38	Loss	LOC105376777 ATP2C2 WFDC1
nsv1059640	Chr.16:84338790 - 84543759 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374
nsv573425	Chr.16:84298994 - 84575953 on Build GRCh38	Loss	COTL1 ATP2C2 WFDC1 TLDC1 LOC105371374
esv3892928	Chr.16:84339110 - 84524557 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374
dgv169n21	Chr.16:84346305 - 84480735 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374
nsv573427	Chr.16:84367244 - 84435705 on Build GRCh38	Loss	ATP2C2
nsv483044	Chr.16:84166395 - 87066394 on Build GRCh38	Gain	DNAAF1 LOC440390 FOXC2-AS1 FOXC2 IRF8 COX4I1 FOXL1 FAM92B KCNG4 MIR5093 USP10 LOC101928614 LOC105376777 CRISPLD2 LOC146513 LOC101928474 EMC8 MIR1910 FLJ30679 C16orf74 TAF1C KIAA0513 LOC400548 MIR6774 ATP2C2 ZDHHC7 WFDC1 GINS2 KLHL36 LOC102724344 LOC105371374 LINC00311 FOXF1 COTL1 ADAD2 LINC01082 LINC01081 GSE1 LOC101928557 TLDC1 LINC00917 MTHFSD FENDRR

More Information

Additional Information:

For this assay, SNP(s) [rs75248376] 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 -

primary active transporter

Gene Ontology Categories:

Process(es)

cellular calcium ion homeostasis
ion transmembrane transport
calcium ion transmembrane transport
manganese ion transmembrane transport

Function(s)

calcium-transporting ATPase activity
protein binding
ATP binding
manganese-transporting ATPase activity
metal ion binding