Hs00558075_cn

• Gene Symbol: ATP8B2
• Assay Reference Genome Location: Chr.1:154327841 on build GRCh38
• Cytoband: 1q21.3

Target Gene Details

• Entrez Gene ID: 57198
• Gene Name: ATPase phospholipid transporting 8B2
• Gene Aliases: ATPID
• Location: Chr.1:154325541-154351307 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP8B2	NM_001005855.1			NP_001005855.1
	NM_020452.3			NP_065185.1
	XM_005245356.3			XP_005245413.1
	XM_017001872.1			XP_016857361.1
	AY302537.1			AAQ19027.1
	BC069264.1			AAH69264.1
	X58235.1			CAA41193.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv523934	Chr.1:154323600 - 154335154 on Build GRCh38	Loss	AQP10 ATP8B2
nsv521887	Chr.1:154264094 - 154711630 on Build GRCh38	Gain	UBE2Q1-AS1 HAX1 KCNN3 UBE2Q1 ADAR SHE IL6R CHRNB2 AQP10 UBAP2L ATP8B2 LOC101928101 TDRD10

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

Golgi organization
ion transmembrane transport
phospholipid translocation

Function(s)

magnesium ion binding
phospholipid-translocating ATPase activity
ATP binding