Hs03928632_cn

• Gene Symbol: ATP2C2
• Assay Reference Genome Location: Chr.16:84391247 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
nsv524545	Chr.16:84389209 - 84397270 on Build GRCh38	Loss	ATP2C2
nsv1064677	Chr.16:84384525 - 84462657 on Build GRCh38	Loss	ATP2C2 LOC105371374
nsv573425	Chr.16:84298994 - 84575953 on Build GRCh38	Loss	WFDC1 COTL1 ATP2C2 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
nsv471107	Chr.16:84378250 - 84455427 on Build GRCh38	Gain	ATP2C2
dgv3057n100	Chr.16:84378422 - 84500091 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374
nsv483044	Chr.16:84166395 - 87066394 on Build GRCh38	Gain	FOXC2-AS1 LOC400548 MIR6774 GSE1 FENDRR KCNG4 DNAAF1 FAM92B LOC101928474 TAF1C LOC105371374 KIAA0513 ZDHHC7 COTL1 LOC102724344 GINS2 LOC101928614 FOXC2 LINC00917 MIR5093 LOC105376777 USP10 LOC440390 IRF8 LOC101928557 LINC01082 FOXL1 C16orf74 EMC8 LINC00311 MTHFSD FLJ30679 MIR1910 KLHL36 LOC146513 LINC01081 ADAD2 WFDC1 CRISPLD2 ATP2C2 TLDC1 FOXF1 COX4I1
dgv547e214	Chr.16:84253360 - 84417275 on Build GRCh38	Loss	LOC105376777 WFDC1 ATP2C2
nsv1059640	Chr.16:84338790 - 84543759 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374
dgv5262n54	Chr.16:84381903 - 84583279 on Build GRCh38	Loss	COTL1 ATP2C2 TLDC1 LOC105371374
nsv457600	Chr.16:84387654 - 84501190 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374

More Information

Additional Information:

For this assay, SNP(s) [rs117034137] 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