Hs02072454_cn

• Gene Symbol: PFN3
• Assay Reference Genome Location: Chr.5:177400567 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 345456
• Gene Name: profilin 3
• Gene Aliases: -
• Location: Chr.5:177400107-177400636 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PFN3	NM_001029886.2	1	70	NP_001025057.1
	BC132952.1	1	70
	BC132954.1	1	70

Target Gene Details

• Entrez Gene ID: 6569
• Gene Name: solute carrier family 34 member 1
• Gene Aliases: FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2
• Location: Chr.5:177384431-177412021 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC34A1	XM_017009773.1			XP_016865262.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471057	Chr.5:177310308 - 177469411 on Build GRCh38	Loss	F12 PRR7 DBN1 SLC34A1 MXD3 PRR7-AS1 LMAN2 GRK6 RGS14 PFN3
nsv509103	Chr.5:177308751 - 177414575 on Build GRCh38	Insertion	F12 SLC34A1 MXD3 LMAN2 RGS14 PFN3
nsv600364	Chr.5:177299634 - 177432847 on Build GRCh38	Loss	NSD1 F12 PRELID1 SLC34A1 MXD3 LMAN2 GRK6 RAB24 RGS14 PFN3
dgv10185n54	Chr.5:177398001 - 177406217 on Build GRCh38	Loss	F12 SLC34A1 PFN3
dgv10184n54	Chr.5:177357511 - 177469411 on Build GRCh38	Loss	F12 PRR7 DBN1 SLC34A1 PRR7-AS1 GRK6 RGS14 PFN3
nsv1161313	Chr.5:177356552 - 177463415 on Build GRCh38	Duplication	F12 PRR7 DBN1 SLC34A1 PRR7-AS1 GRK6 RGS14 PFN3
nsv1161312	Chr.5:177322159 - 177405557 on Build GRCh38	Deletion	F12 SLC34A1 LMAN2 RGS14 PFN3
nsv1161311	Chr.5:177305104 - 177546474 on Build GRCh38	Duplication	FAM193B PDLIM7 PRR7 MXD3 GRK6 PFN3 DDX41 F12 PRELID1 DBN1 SLC34A1 DOK3 PRR7-AS1 LMAN2 RGS14

More Information

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

Panther Classification:

Molecular Function -

non-motor actin binding protein, secondary carrier transporter

Gene Ontology Categories:

Process(es)

actin cytoskeleton organization
regulation of actin filament polymerization
positive regulation of actin filament bundle assembly
ossification
kidney development
phosphate ion transport
glycoprotein metabolic process
response to lead ion
cellular phosphate ion homeostasis
response to magnesium ion
response to estradiol
response to vitamin A
phosphate ion transmembrane transport
sodium ion transmembrane transport
response to potassium ion
indole metabolic process
response to drug
cellular protein metabolic process
sodium-dependent phosphate transport
positive regulation of membrane potential
response to cadmium ion
response to mercury ion
protein homooligomerization
phosphate ion homeostasis
response to growth hormone
cellular response to metal ion
cellular response to parathyroid hormone stimulus
tricarboxylic acid metabolic process
cellular response to staurosporine
response to thyroid hormone
dentinogenesis
gentamycin metabolic process
arsenate ion transmembrane transport
positive regulation of sodium-dependent phosphate transport
positive regulation of phosphate transmembrane transport

Function(s)

actin binding
lipid binding
inorganic phosphate transmembrane transporter activity
sodium:phosphate symporter activity
protein binding
sodium-dependent phosphate transmembrane transporter activity
PDZ domain binding
protein complex binding
protein homodimerization activity