Hs00970543_cn

• Gene Symbol: PFKFB4
• Assay Reference Genome Location: Chr.3:48562019 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PFKFB4	XM_011533829.2	1	365	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	1184	NP_149976.1
	BC002647.2	2	1184	AAH02647.2
	BC022096.1	2	1184	AAH22096.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1004383	Chr.3:48506361 - 48612339 on Build GRCh38	Loss	SNORA94 UQCRC1 MIR6823 COL7A1 PFKFB4 UCN2 MIR711
nsv954484	Chr.3:48533268 - 48609567 on Build GRCh38	Deletion	SNORA94 UQCRC1 MIR6823 COL7A1 PFKFB4 UCN2 MIR711
nsv834685	Chr.3:48527576 - 48708341 on Build GRCh38	Loss	IP6K2 CELSR3 SLC26A6 MIR6824 UQCRC1 TMEM89 COL7A1 PFKFB4 UCN2 SNORA94 MIR4793 CELSR3-AS1 NCKIPSD MIR6823 MIR711
nsv3811	Chr.3:48561747 - 48606376 on Build GRCh38	Deletion	SNORA94 UQCRC1 COL7A1 PFKFB4 UCN2 MIR711
nsv523981	Chr.3:48478880 - 48683607 on Build GRCh38	Loss	CELSR3 SLC26A6 MIR6824 UQCRC1 TMEM89 SHISA5 COL7A1 PFKFB4 UCN2 SNORA94 MIR4793 CELSR3-AS1 NCKIPSD MIR6823 MIR711
esv2725247	Chr.3:48561192 - 48562010 on Build GRCh38	Deletion	PFKFB4 UCN2
nsv1152618	Chr.3:48558266 - 48563067 on Build GRCh38	Duplication	PFKFB4 UCN2

More Information

• Set Membership: Intragenic, 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