Hs00580447_cn

• Gene Symbol: ATP2A1
• Assay Reference Genome Location: Chr.16:28898479 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: Overlaps Exon 15 - Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2A1	NM_001286075.1			NP_001273004.1
	NM_004320.4			NP_004311.1
	NM_173201.3			NP_775293.1
	AK128456.1
	AK291314.1
	BC037354.1			AAH37354.1
	BX537389.1			CAD97631.1
	BX537784.1			CAD97841.1
	BX647365.1
	BX647366.1
	BX647367.1
	BX647368.1
	BX648544.1
	BX649072.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs66716803] 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, Non-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