Hs01791222_cn

• Gene Symbol: CYP11B2
• Assay Reference Genome Location: Chr.8:142910723 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 1585
• Gene Name: cytochrome P450 family 11 subfamily B member 2
• Gene Aliases: ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo
• Location: Chr.8:142910559-142917843 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP11B2	NM_000498.3	9	2772	NP_000489.3
	X54741.1	9	2772	CAA38539.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv991235	Chr.8:142877756 - 142915789 on Build GRCh38	Deletion	CYP11B1 CYP11B2
esv2737938	Chr.8:142875561 - 142915781 on Build GRCh38	Deletion	CYP11B1 CYP11B2
esv2661137	Chr.8:142256294 - 142935448 on Build GRCh38	Deletion	GML LOC100288181 LY6D LY6K PSCA CYP11B2 LOC101928087 ARC JRK THEM6 LYNX1 ADGRB1 LYPD2 CYP11B1 TSNARE1 SLURP1
esv2673440	Chr.8:142878652 - 142916672 on Build GRCh38	Deletion	CYP11B1 CYP11B2
esv3544372	Chr.8:142877708 - 142916066 on Build GRCh38	Deletion	CYP11B1 CYP11B2
nsv436586	Chr.8:142877816 - 142914663 on Build GRCh38	Deletion	CYP11B1 CYP11B2
nsv950005	Chr.8:142910085 - 142918184 on Build GRCh38	Deletion	CYP11B2
nsv470246	Chr.8:142872807 - 142926765 on Build GRCh38	Loss	CYP11B1 CYP11B2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of blood volume by renal aldosterone
renal water homeostasis
C21-steroid hormone biosynthetic process
mineralocorticoid biosynthetic process
cholesterol metabolic process
sterol metabolic process
aldosterone biosynthetic process
cellular response to hormone stimulus
cortisol biosynthetic process
cellular response to potassium ion
secondary metabolite biosynthetic process
potassium ion homeostasis
sodium ion homeostasis
oxidation-reduction process
cellular response to peptide hormone stimulus

Function(s)

steroid 11-beta-monooxygenase activity
iron ion binding
steroid hydroxylase activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
heme binding
corticosterone 18-monooxygenase activity