Hs01243690_cn

• Gene Symbol: ATP5B
• Assay Reference Genome Location: Chr.12:56644792 on build GRCh38
• Cytoband: 12q13.3

Target Gene Details

• Entrez Gene ID: 506
• Gene Name: ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
• Gene Aliases: ATPMB, ATPSB, HEL-S-271
• Location: Chr.12:56638175-56646068 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP5B	NM_001686.3			NP_001677.2
	AK291085.1
	BC016512.1			AAH16512.1
	BI561028.1
	DQ403107.1
	FJ224288.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv482992	Chr.12:56206217 - 57706217 on Build GRCh38	Gain+Loss	RNF41 MIR6758 SHMT2 STAT6 NXPH4 COQ10A NABP2 R3HDM2 LRP1 ATP5B MIP SLC39A5 LRP1-AS MBD6 NAB2 PIP4K2C DTX3 HSD17B6 CS ARHGAP9 PAN2 SNORD59B MYO1A SLC26A10 B4GALNT1 GPR182 RBMS2 SDR9C7 INHBE MIR1228 GLS2 MIR616 NEMP1 LOC101927583 PTGES3 ANKRD52 SPRYD4 ARHGEF25 TAC3 KIF5A TIMELESS ZBTB39 STAC3 DCTN2 MARS INHBC GLI1 BAZ2A PRIM1 NDUFA4L2 SNORD59A STAT2 IL23A SNORA105C HBCBP CNPY2 NACA OS9 DDIT3 RDH16 APOF

More Information

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

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

angiogenesis
osteoblast differentiation
generation of precursor metabolites and energy
lipid metabolic process
ATP biosynthetic process
negative regulation of cell adhesion involved in substrate-bound cell migration
mitochondrion organization
ATP hydrolysis coupled proton transport
proton transport
mitochondrial ATP synthesis coupled proton transport
regulation of intracellular pH

Function(s)

transporter activity
protein binding
ATP binding
ATPase activity
transmembrane transporter activity
MHC class I protein binding
proton-transporting ATP synthase activity, rotational mechanism
proton-transporting ATPase activity, rotational mechanism