Hs01340564_cn

• Gene Symbol: ATP12A
• Assay Reference Genome Location: Chr.13:24689346 on build GRCh38
• Cytoband: 13q12.12

Target Gene Details

• Entrez Gene ID: 479
• Gene Name: ATPase H+/K+ transporting non-gastric alpha2 subunit
• Gene Aliases: #945, ATP1AL1, HK
• Location: Chr.13:24680411-24711785 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP12A	NM_001185085.1			NP_001172014.1
	NM_001676.5			NP_001667.4
	AK292968.1
	BC031609.1			AAH31609.1
	U02076.1			AAB37755.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv561345	Chr.13:24606013 - 24763162 on Build GRCh38	Gain	ATP12A RNF17
nsv832568	Chr.13:24522385 - 24743328 on Build GRCh38	Gain	LOC101927375 ATP12A LOC105370295 TPTE2P6
nsv561348	Chr.13:24643343 - 24729117 on Build GRCh38	Gain	ATP12A
esv2751140	Chr.13:24611237 - 24717762 on Build GRCh38	Gain	ATP12A

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

cellular sodium ion homeostasis
regulation of pH
response to metal ion
potassium ion import
establishment or maintenance of transmembrane electrochemical gradient
response to organic cyclic compound
ATP hydrolysis coupled proton transport
cellular potassium ion homeostasis
ion transmembrane transport
sodium ion export from cell

Function(s)

sodium:potassium-exchanging ATPase activity
ATP binding
hydrogen:potassium-exchanging ATPase activity
metal ion binding