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	SPNS1 ATP2A1 SH2B1 TUFM CD19 LAT NFATC2IP ATXN2L MIR4517 MIR4721 ATP2A1-AS1 RABEP2
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	SPNS1 ATP2A1 SH2B1 TUFM CD19 LAT NFATC2IP ATXN2L MIR4517 MIR4721 ATP2A1-AS1 RABEP2
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	ATP2A1 SH2B1 ATP2A1-AS1 RABEP2
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	SH2B1 SULT1A1 CLN3 SGF29 MIR6862-1 MIR4517 MIR4721 IL27 NPIP RABEP2 XPO6 LAT NFATC2IP MIR6862-2 APOBR ATXN2L LOC101928215 NPIPB9 SBK1 ATP2A1 EIF3C TUFM RRN3P2 NPIPB6 NPIPB8 EIF3CL NUPR1 SPNS1 CD19 SULT1A2 ATP2A1-AS1
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	SPNS1 ATP2A1 SH2B1 TUFM CD19 LAT NFATC2IP ATXN2L MIR4517 MIR4721 ATP2A1-AS1 RABEP2
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	SH2B1 SULT1A1 CLN3 SGF29 MIR6862-1 MIR4517 MIR4721 IL27 NPIP RABEP2 LAT NFATC2IP MIR6862-2 APOBR ATXN2L LOC101928215 NPIPB9 LOC107984832 ATP2A1 EIF3C TUFM RRN3P2 NPIPB8 EIF3CL NUPR1 SPNS1 CD19 SULT1A2 ATP2A1-AS1
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	SPNS1 ATP2A1 SH2B1 TUFM CD19 LAT NFATC2IP ATXN2L MIR4517 MIR4721 ATP2A1-AS1 RABEP2
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	SPNS1 ATP2A1 SH2B1 TUFM CD19 LAT NFATC2IP ATXN2L MIR4517 MIR4721 ATP2A1-AS1 RABEP2
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	SPNS1 ATP2A1 SH2B1 TUFM CD19 LAT NFATC2IP ATXN2L MIR4517 MIR4721 ATP2A1-AS1 RABEP2
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	ATP2A1 SH2B1 EIF3C SULT1A1 TUFM NPIPB8 MIR4517 MIR4721 RABEP2 SPNS1 CD19 LAT NFATC2IP MIR6862-2 ATXN2L NPIPB9 ATP2A1-AS1

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