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
nsv573425	Chr.16:84298994 - 84575953 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374 WFDC1 COTL1
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	FOXF1 KIAA0513 LOC146513 C16orf74 MIR5093 LOC101928557 EMC8 LINC00917 FENDRR KCNG4 LOC105371374 LOC102724344 LOC105376777 GSE1 LINC01082 LOC440390 ATP2C2 FOXC2 LOC400548 MIR1910 FOXL1 GINS2 TLDC1 FOXC2-AS1 KLHL36 FAM92B LINC00311 LINC01081 COTL1 COX4I1 LOC101928474 MIR6774 CRISPLD2 MTHFSD IRF8 DNAAF1 LOC101928614 ADAD2 USP10 ZDHHC7 FLJ30679 TAF1C WFDC1
nsv523226	Chr.16:84397270 - 84455427 on Build GRCh38	Loss	ATP2C2
dgv547e214	Chr.16:84253360 - 84417275 on Build GRCh38	Loss	ATP2C2 WFDC1 LOC105376777
nsv1059640	Chr.16:84338790 - 84543759 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374
dgv5262n54	Chr.16:84381903 - 84583279 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374 COTL1
nsv457600	Chr.16:84387654 - 84501190 on Build GRCh38	Loss	ATP2C2 TLDC1 LOC105371374
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