Hs06340702_cn

• Gene Symbol: PFKM
• Assay Reference Genome Location: Chr.12:48109565 on build GRCh38
• Cytoband: 12q13.11

Target Gene Details

• Entrez Gene ID: 5213
• Gene Name: phosphofructokinase, muscle
• Gene Aliases: ATP-PFK, GSD7, PFK-1, PFK1, PFKA, PFKX, PPP1R122
• Location: Chr.12:48105278-48146404 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PFKM	NM_001166686.1			NP_001160158.1
	XM_005268974.1			XP_005269031.1
	XM_005268975.1			XP_005269032.1
	XM_005268976.3			XP_005269033.1
	XM_005268977.1			XP_005269034.1
	XM_005268978.2			XP_005269035.1
	XM_005268979.1			XP_005269036.1
	XM_011538487.1			XP_011536789.1
	XM_011538488.2			XP_011536790.1
	XM_017019467.1			XP_016874956.1
	XM_017019468.1			XP_016874957.1
	XM_017019469.1			XP_016874958.1
	AK126020.1
	AK126229.1			BAC86498.1
	DB081387.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759898	Chr.12:48035919 - 48431716 on Build GRCh38	Gain+Loss	OR10AD1 ZNF641 CCDC184 C12orf54 H1FNT PFKM MIR6505 ASB8 SENP1
nsv508673	Chr.12:48096003 - 48173355 on Build GRCh38	Deletion	PFKM MIR6505 ASB8 SENP1

More Information

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

Panther Classification:

Molecular Function -

carbohydrate kinase, kinase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

glycogen catabolic process
fructose 6-phosphate metabolic process
glycolytic process
positive regulation of insulin secretion
glucose homeostasis
muscle cell cellular homeostasis
carbohydrate phosphorylation
protein oligomerization
canonical glycolysis
glycolysis from storage polysaccharide through glucose-1-phosphate

Function(s)

6-phosphofructokinase activity
protein binding
ATP binding
protein C-terminus binding
kinase binding
identical protein binding
protein homodimerization activity
metal ion binding
fructose binding