Hs00745087_cn

• Gene Symbol: F12
• Assay Reference Genome Location: Chr.5:177409486 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 2161
• Gene Name: coagulation factor XII
• Gene Aliases: HAE3, HAEX, HAF
• Location: Chr.5:177402138-177409576 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
F12	NM_000505.3			NP_000496.2
	AB095845.1			BAC23095.1
	M11723.1			AAA51986.1
	M31315.1			AAA70225.1

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	MXD3 PFN3 DBN1 PRR7 RGS14 F12 LMAN2 PRR7-AS1 SLC34A1 GRK6
nsv509103	Chr.5:177308751 - 177414575 on Build GRCh38	Insertion	MXD3 PFN3 RGS14 F12 LMAN2 SLC34A1
nsv600364	Chr.5:177299634 - 177432847 on Build GRCh38	Loss	MXD3 PFN3 RGS14 PRELID1 NSD1 F12 LMAN2 SLC34A1 RAB24 GRK6
dgv10184n54	Chr.5:177357511 - 177469411 on Build GRCh38	Loss	PFN3 DBN1 PRR7 RGS14 F12 PRR7-AS1 SLC34A1 GRK6
nsv1161313	Chr.5:177356552 - 177463415 on Build GRCh38	Duplication	PFN3 DBN1 PRR7 RGS14 F12 PRR7-AS1 SLC34A1 GRK6
nsv1161311	Chr.5:177305104 - 177546474 on Build GRCh38	Duplication	FAM193B PFN3 DBN1 PRR7 RGS14 DDX41 LMAN2 DOK3 MXD3 PDLIM7 PRELID1 F12 PRR7-AS1 SLC34A1 GRK6

More Information

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

Panther Classification:

Molecular Function -

serine protease, secondary carrier transporter

Gene Ontology Categories:

Process(es)

plasma kallikrein-kinin cascade
Factor XII activation
blood coagulation, intrinsic pathway
positive regulation of plasminogen activation
protein processing
protein autoprocessing
positive regulation of blood coagulation
zymogen activation
fibrinolysis
innate immune response
response to misfolded protein
positive regulation of fibrinolysis
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)

serine-type endopeptidase activity
calcium ion binding
protein binding
misfolded protein binding
inorganic phosphate transmembrane transporter activity
sodium:phosphate symporter activity
sodium-dependent phosphate transmembrane transporter activity
PDZ domain binding
protein complex binding
protein homodimerization activity