Hs06363847_cn

• Gene Symbol: PGAM5
• Assay Reference Genome Location: Chr.12:132716846 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 192111
• Gene Name: PGAM family member 5, mitochondrial serine/threonine protein phosphatase
• Gene Aliases: BXLBV68
• Location: Chr.12:132710807-132722737 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PGAM5	NM_001170543.1			NP_001164014.1
	NM_001170544.1			NP_001164015.1
	NM_138575.3			NP_612642.2
	AK097688.1
	BC008196.1			AAH08196.1
	DR155760.1
	EU249757.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1047500	Chr.12:132666737 - 132763400 on Build GRCh38	Gain	ANKLE2 PGAM5 POLE PXMP2
nsv1037074	Chr.12:132613063 - 132801953 on Build GRCh38	Gain	P2RX2 ANKLE2 PGAM5 POLE GOLGA3 PXMP2
esv3631311	Chr.12:132713141 - 132737944 on Build GRCh38	Gain	ANKLE2 PGAM5

More Information

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

Panther Classification:

Molecular Function -

isomerase, mutase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

protein dephosphorylation
signal transduction
positive regulation of GTPase activity
necroptotic process

Function(s)

GTPase activator activity
receptor signaling protein serine/threonine phosphatase activity
phosphatase activity
protein complex binding