Hs01303292_cn

• Gene Symbol: PFKFB4
• Assay Reference Genome Location: Chr.3:48562357 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 5210
• Gene Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
• Gene Aliases: -
• Location: Chr.3:48517684-48562383 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PFKFB4	XM_011533829.2			XP_011532131.1

Target Gene Details

• Entrez Gene ID: 90226
• Gene Name: urocortin 2
• Gene Aliases: SRP, UCN-II, UCNI, UR, URP
• Location: Chr.3:48561718-48563768 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UCN2	NM_033199.3	2	846	NP_149976.1
	BC002647.2	2	846	AAH02647.2
	BC022096.1	2	846	AAH22096.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954484	Chr.3:48533268 - 48609567 on Build GRCh38	Deletion	SNORA94 MIR711 UCN2 COL7A1 PFKFB4 MIR6823 UQCRC1
nsv1004383	Chr.3:48506361 - 48612339 on Build GRCh38	Loss	SNORA94 MIR711 UCN2 COL7A1 PFKFB4 MIR6823 UQCRC1
nsv3811	Chr.3:48561747 - 48606376 on Build GRCh38	Deletion	SNORA94 MIR711 UCN2 COL7A1 PFKFB4 UQCRC1
nsv834685	Chr.3:48527576 - 48708341 on Build GRCh38	Loss	UCN2 IP6K2 TMEM89 SLC26A6 MIR6823 CELSR3-AS1 CELSR3 UQCRC1 MIR6824 NCKIPSD SNORA94 MIR4793 MIR711 COL7A1 PFKFB4
nsv523981	Chr.3:48478880 - 48683607 on Build GRCh38	Loss	UCN2 TMEM89 SLC26A6 MIR6823 CELSR3-AS1 CELSR3 SHISA5 UQCRC1 MIR6824 NCKIPSD SNORA94 MIR4793 MIR711 COL7A1 PFKFB4
nsv1152618	Chr.3:48558266 - 48563067 on Build GRCh38	Duplication	UCN2 PFKFB4

More Information

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

Panther Classification:

Molecular Function -

carbohydrate phosphatase

Gene Ontology Categories:

Process(es)

fructose metabolic process
fructose 2,6-bisphosphate metabolic process
dephosphorylation
carbohydrate phosphorylation
canonical glycolysis
cAMP biosynthetic process
response to stress
adenylate cyclase-activating G-protein coupled receptor signaling pathway
digestion
cell proliferation
negative regulation of gene expression
cellular response to nutrient levels
negative regulation of luteinizing hormone secretion
response to immobilization stress
negative regulation of follicle-stimulating hormone secretion
cellular response to glucocorticoid stimulus
cellular response to hypoxia

Function(s)

6-phosphofructo-2-kinase activity
fructose-2,6-bisphosphate 2-phosphatase activity
ATP binding
G-protein coupled receptor binding
receptor binding
hormone activity
hormone binding
corticotropin-releasing hormone receptor 2 binding