Hs00951844_cn

• Gene Symbol: PDZD3
• Assay Reference Genome Location: Chr.11:119187956 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDZD3	NM_001168468.1			NP_001161940.1
	NM_024791.3			NP_079067.3
	NR_033122.1
	XM_011543000.2			XP_011541302.1
	XM_011543001.2			XP_011541303.1
	XM_011543002.2			XP_011541304.1
	XM_011543005.2			XP_011541307.1
	XM_017018334.1			XP_016873823.1
	XM_017018335.1			XP_016873824.1
	XM_017018336.1			XP_016873825.1
	XM_017018337.1			XP_016873826.1
	AB094096.1			BAC76050.1
	AK026409.1	6	933	BAB15474.1
	AK091966.1			BAC03780.1
	AK298333.1
	AK315403.1
	AY047359.1			AAL10686.1
	BC029042.1			AAH29042.1
	BX648391.1

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	PDZD3 ABCG4 CCDC153 NLRX1
nsv556468	Chr.11:119185525 - 119195050 on Build GRCh38	Loss	PDZD3 CCDC153
nsv556466	Chr.11:119106009 - 119188695 on Build GRCh38	Loss	PDZD3 ABCG4 C2CD2L HINFP NLRX1

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