Hs04712699_cn

• Gene Symbol: PDIA6
• Assay Reference Genome Location: Chr.2:10788307 on build GRCh38
• Cytoband: 2p25.1

Target Gene Details

• Entrez Gene ID: 10130
• Gene Name: protein disulfide isomerase family A member 6
• Gene Aliases: ERP5, P5, TXNDC7
• Location: Chr.2:10783391-10837977 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDIA6	NM_001282704.1			NP_001269633.1
	NM_001282705.1			NP_001269634.1
	NM_001282706.1			NP_001269635.1
	NM_001282707.1			NP_001269636.1
	NM_005742.3			NP_005733.1
	XM_011510308.1			XP_011508610.1
	AK127433.1			BAC86977.1
	AK131234.1
	AK225496.1
	AK289428.1
	AK294347.1
	AK297547.1
	BC001312.1			AAH01312.1
	U79278.1			AAB50217.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1000731	Chr.2:10618531 - 10803756 on Build GRCh38	Gain	RN7SL832P NOL10 ATP6V1C2 PDIA6
nsv580968	Chr.2:10783142 - 10793123 on Build GRCh38	Loss	ATP6V1C2 PDIA6

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein folding
response to endoplasmic reticulum stress
IRE1-mediated unfolded protein response
apoptotic cell clearance
cell redox homeostasis

Function(s)

protein disulfide isomerase activity
protein binding