Hs03919913_cn

• Gene Symbol: ATP2C2
• Assay Reference Genome Location: Chr.16:84389300 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
nsv527957	Chr.16:84389209 - 84394686 on Build GRCh38	Loss	ATP2C2
nsv1064677	Chr.16:84384525 - 84462657 on Build GRCh38	Loss	LOC105371374 ATP2C2
nsv573425	Chr.16:84298994 - 84575953 on Build GRCh38	Loss	WFDC1 TLDC1 LOC105371374 COTL1 ATP2C2
dgv169n21	Chr.16:84346305 - 84480735 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2
esv3892928	Chr.16:84339110 - 84524557 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2
nsv471107	Chr.16:84378250 - 84455427 on Build GRCh38	Gain	ATP2C2
nsv457598	Chr.16:84367244 - 84435705 on Build GRCh38	Loss	ATP2C2
nsv457599	Chr.16:84378422 - 84455324 on Build GRCh38	Gain	ATP2C2
nsv483044	Chr.16:84166395 - 87066394 on Build GRCh38	Gain	FAM92B MIR6774 WFDC1 FOXC2-AS1 LOC105371374 FOXF1 LINC01082 DNAAF1 COX4I1 LOC400548 LOC440390 ATP2C2 LINC01081 LOC146513 MIR5093 KCNG4 FOXC2 MIR1910 GINS2 LOC105376777 FLJ30679 TAF1C LOC101928557 LOC101928474 EMC8 TLDC1 USP10 LOC102724344 KIAA0513 FOXL1 ZDHHC7 LOC101928614 ADAD2 LINC00917 C16orf74 FENDRR CRISPLD2 MTHFSD LINC00311 IRF8 KLHL36 COTL1 GSE1
nsv1059640	Chr.16:84338790 - 84543759 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2
dgv548e214	Chr.16:84253360 - 84417275 on Build GRCh38	Gain	WFDC1 LOC105376777 ATP2C2
dgv5262n54	Chr.16:84381903 - 84583279 on Build GRCh38	Loss	TLDC1 LOC105371374 COTL1 ATP2C2
nsv573430	Chr.16:84387654 - 84501190 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2

More Information

Additional Information:

For this assay, SNP(s) [rs114090851] 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