Hs03926666_cn

• Gene Symbol: ATP2C2
• Assay Reference Genome Location: Chr.16:84398928 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2C2	NM_001286527.2			NP_001273456.2
	NM_014861.3			NP_055676.3
	XM_011523486.2			XP_011521788.1
	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
nsv1064677	Chr.16:84384525 - 84462657 on Build GRCh38	Loss	ATP2C2 LOC105371374
dgv169n21	Chr.16:84346305 - 84480735 on Build GRCh38	Loss	ATP2C2 LOC105371374 TLDC1
esv3892928	Chr.16:84339110 - 84524557 on Build GRCh38	Loss	ATP2C2 LOC105371374 TLDC1
nsv573425	Chr.16:84298994 - 84575953 on Build GRCh38	Loss	WFDC1 COTL1 ATP2C2 LOC105371374 TLDC1
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	LINC00311 MIR5093 LOC440390 LOC105376777 FAM92B KCNG4 EMC8 GSE1 LINC00917 FLJ30679 LOC400548 GINS2 TAF1C COX4I1 TLDC1 LOC101928557 DNAAF1 MIR6774 LOC101928474 LINC01082 FOXC2 LOC146513 ZDHHC7 USP10 LOC105371374 C16orf74 FENDRR WFDC1 LOC102724344 FOXL1 FOXC2-AS1 CRISPLD2 FOXF1 COTL1 MTHFSD MIR1910 ATP2C2 KIAA0513 LINC01081 ADAD2 KLHL36 LOC101928614 IRF8
nsv523226	Chr.16:84397270 - 84455427 on Build GRCh38	Loss	ATP2C2
nsv1059640	Chr.16:84338790 - 84543759 on Build GRCh38	Loss	ATP2C2 LOC105371374 TLDC1
dgv548e214	Chr.16:84253360 - 84417275 on Build GRCh38	Gain	WFDC1 LOC105376777 ATP2C2
dgv5262n54	Chr.16:84381903 - 84583279 on Build GRCh38	Loss	COTL1 ATP2C2 LOC105371374 TLDC1
nsv573430	Chr.16:84387654 - 84501190 on Build GRCh38	Loss	ATP2C2 LOC105371374 TLDC1
nsv1056072	Chr.16:84397757 - 84451417 on Build GRCh38	Loss	ATP2C2

More Information

Additional Information:

For this assay, SNP(s) [rs112806495] 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