Hs00299058_cn

• Gene Symbol: ATP2A1
• Assay Reference Genome Location: Chr.16:28878680 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 487
• Gene Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
• Gene Aliases: ATP2A, SERCA1
• Location: Chr.16:28878488-28904509 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2A1	NM_004320.4	1	193	NP_004311.1
	NM_173201.3	1	193	NP_775293.1
	AK291314.1	1	122
	BC037354.1	1	121	AAH37354.1
	BX537389.1	1	189	CAD97631.1
	BX537784.1	1	191	CAD97841.1
	BX647365.1	1	189
	BX647366.1	1	185
	BX647367.1	1	193
	BX648544.1	1	190
	BX649072.1	1	182

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4987n54	Chr.16:28824884 - 29032129 on Build GRCh38	Gain	TUFM NFATC2IP CD19 SPNS1 ATP2A1-AS1 MIR4517 ATP2A1 RABEP2 SH2B1 MIR4721 LAT ATXN2L
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	TUFM NFATC2IP CD19 SPNS1 ATP2A1-AS1 MIR4517 ATP2A1 RABEP2 SH2B1 MIR4721 LAT ATXN2L
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	ATP2A1-AS1 ATP2A1 RABEP2 SH2B1
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	EIF3C NFATC2IP MIR4517 ATP2A1 CLN3 NPIPB6 XPO6 MIR6862-2 APOBR SBK1 SGF29 TUFM LOC101928215 IL27 SPNS1 ATP2A1-AS1 RABEP2 ATXN2L NPIPB9 EIF3CL SULT1A1 SULT1A2 NUPR1 NPIP MIR6862-1 CD19 NPIPB8 RRN3P2 SH2B1 MIR4721 LAT
nsv519100	Chr.16:28826194 - 29032129 on Build GRCh38	Gain	TUFM NFATC2IP CD19 SPNS1 ATP2A1-AS1 MIR4517 ATP2A1 RABEP2 SH2B1 MIR4721 LAT ATXN2L
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	EIF3C NFATC2IP MIR4517 ATP2A1 CLN3 MIR6862-2 APOBR SGF29 TUFM LOC101928215 IL27 SPNS1 ATP2A1-AS1 LOC107984832 RABEP2 ATXN2L NPIPB9 EIF3CL SULT1A1 SULT1A2 NUPR1 NPIP MIR6862-1 CD19 NPIPB8 RRN3P2 SH2B1 MIR4721 LAT
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	TUFM NFATC2IP CD19 SPNS1 ATP2A1-AS1 MIR4517 ATP2A1 RABEP2 SH2B1 MIR4721 LAT ATXN2L
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	TUFM NFATC2IP CD19 SPNS1 ATP2A1-AS1 MIR4517 ATP2A1 RABEP2 SH2B1 MIR4721 LAT ATXN2L
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	TUFM NFATC2IP CD19 SPNS1 ATP2A1-AS1 MIR4517 ATP2A1 RABEP2 SH2B1 MIR4721 LAT ATXN2L
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	TUFM EIF3C NFATC2IP SPNS1 ATP2A1-AS1 MIR4517 ATP2A1 RABEP2 ATXN2L NPIPB9 SULT1A1 CD19 NPIPB8 MIR6862-2 SH2B1 MIR4721 LAT

More Information

Additional Information:

For this assay, SNP(s) [rs75273069] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

calcium ion transport
apoptotic mitochondrial changes
positive regulation of fast-twitch skeletal muscle fiber contraction
positive regulation of endoplasmic reticulum calcium ion concentration
negative regulation of endoplasmic reticulum calcium ion concentration
ion transmembrane transport
response to endoplasmic reticulum stress
positive regulation of mitochondrial calcium ion concentration
maintenance of mitochondrion location
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
calcium ion import
calcium ion transmembrane transport
relaxation of skeletal muscle
regulation of cardiac conduction

Function(s)

calcium-transporting ATPase activity
calcium ion binding
protein binding
ATP binding
protein homodimerization activity