Hs00696830_cn

• Gene Symbol: PDZD3
• Assay Reference Genome Location: Chr.11:119190073 on build GRCh38
• Cytoband: 11q23.3

Target Gene Details

• Entrez Gene ID: 79849
• Gene Name: PDZ domain containing 3
• Gene Aliases: IKEPP, NHERF4, PDZK2
• Location: Chr.11:119185457-119190223 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDZD3	NM_001168468.1	11	2137	NP_001161940.1
	NM_024791.3	11	2095	NP_079067.3
	NR_033122.1	11	2213
	XM_011543000.2	10	2432	XP_011541302.1
	XM_011543001.2	10	2526	XP_011541303.1
	XM_011543002.2	10	2618	XP_011541304.1
	XM_011543005.2	11	2122	XP_011541307.1
	XM_017018334.1	9	2804	XP_016873823.1
	AB094096.1	9	2829	BAC76050.1
	BC029042.1	11	2066	AAH29042.1
	BX648391.1	10	2406

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv556467	Chr.11:119154221 - 119193848 on Build GRCh38	Loss	NLRX1 ABCG4 CCDC153 PDZD3
nsv556468	Chr.11:119185525 - 119195050 on Build GRCh38	Loss	CCDC153 PDZD3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

ion transport
water transport
receptor guanylyl cyclase signaling pathway
response to toxic substance
cGMP-mediated signaling
negative regulation of cGMP biosynthetic process
negative regulation of guanylate cyclase activity

Function(s)

protein binding
protein C-terminus binding
ion channel inhibitor activity
guanylate cyclase inhibitor activity