Hs01152876_cn

• Gene Symbol: PDIA2
• Assay Reference Genome Location: Chr.16:284467 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 64714
• Gene Name: protein disulfide isomerase family A member 2
• Gene Aliases: PDA2, PDI, PDIP, PDIR
• Location: Chr.16:283118-287209 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDIA2	NM_006849.2	2	332	NP_006840.2
	AK075485.1
	AK124931.1	2	286
	AK295383.1	2	224
	AK308516.1	2	257
	BC000537.2	2	266	AAH00537.2
	BC075029.2	2	264	AAH75029.1
	U19948.1	2	265	AAC50401.1
	Z84717.1	1	316

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	BRICD5 SNORA64 RGS11 CCDC78 PRR25 SNHG9 NPW JMJD8 PIGQ CAPN15 STUB1 ABCA3 MIR3180-5 MIR940 SPSB3 LOC106660606 WDR24 TRAF7 MIR5587 CEMP1 CHTF18 PRR35 ATP6V0C LOC107987233 LOC652276 WDR90 MRPL28 MAPK8IP3 HAGH LOC105371038 FAM234A MIR3176 GFER MIR662 NOXO1 AMDHD2 TPSB2 ABCA17P TMEM8A MIR4717 TBL3 LMF1-AS1 WASIR2 RNF151 HS3ST6 PTX4 LOC105371045 DNASE1L2 PRSS29P CCNF LUC7L PDIA2 RAB40C PRSS27 MIR4516 ARHGDIG RPUSD1 HBZ RNPS1 SSTR5-AS1 SNRNP25 METTL26 C1QTNF8 MIR1225 AXIN1 SSTR5 PDPK1 SNORA10 LOC729652 NPRL3 CACNA1H RHOT2 TSC2 MCRIP2 SNORD60 MIR6768 SYNGR3 MIR6859-4 IFT140 LOC105371046 MIR6511B1 NHLRC4 E4F1 MIR3178 LOC105371047 RPS2 ECI1 MIR3177 CASKIN1 UBE2I TPSG1 C16orf59 MPG NTN3 LINC00254 LOC107984876 LOC101929280 ZNF598 FBXL16 MLST8 HBA1 ERVK13-1 CCDC154 MRPS34 PGP MSLN RHBDL1 CLCN7 WFIKKN1 LOC100134368 TBC1D24 TPSAB1 FLJ42627 PKD1 NDUFB10 UNKL FAHD1 SLC9A3R2 EME2 SNORA78 TPSD1 TELO2 RHBDF1 LINC00235 NME3 IGFALS FAM173A KCTD5 TMEM204 LOC100287175 DECR2 CRAMP1 MEIOB POLR3K HN1L BAIAP3 RAB26 MSRB1 NUBP2 GNG13 HBA2 LOC105371184 TSR3 LMF1 LOC105371049 SOX8 RPL3L NTHL1 HBQ1 NARFL MIR6767 MIR3677 DDX11L10 RPL23AP5 HAGHL NME4 SNHG19 GNPTG C16orf91 HBM METRN RAB11FIP3
nsv570952	Chr.16:281959 - 286916 on Build GRCh38	Loss	ARHGDIG PDIA2
nsv952896	Chr.16:273501 - 321500 on Build GRCh38	Deletion	ARHGDIG RGS11 AXIN1 PDIA2
esv3637563	Chr.16:263248 - 505590 on Build GRCh38	Gain	ARHGDIG RGS11 MRPL28 DECR2 RAB11FIP3 LOC100134368 TMEM8A RPL23AP5 AXIN1 FAM234A PDIA2 NME4
nsv570951	Chr.16:279671 - 322597 on Build GRCh38	Loss	ARHGDIG AXIN1 PDIA2
nsv827477	Chr.16:262247 - 297639 on Build GRCh38	Gain	ARHGDIG RGS11 AXIN1 FAM234A PDIA2
nsv570947	Chr.16:272935 - 297326 on Build GRCh38	Loss	ARHGDIG RGS11 AXIN1 PDIA2
dgv4808n54	Chr.16:279211 - 287691 on Build GRCh38	Loss	ARHGDIG AXIN1 PDIA2
dgv32n68	Chr.16:245507 - 476226 on Build GRCh38	Loss	ARHGDIG RGS11 MRPL28 DECR2 RAB11FIP3 LOC100134368 TMEM8A RPL23AP5 AXIN1 FAM234A PDIA2 NME4

More Information

Additional Information:

For this assay, SNP(s) [rs115506610] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein folding
protein retention in ER lumen
peptidyl-proline hydroxylation
protein folding in endoplasmic reticulum
response to endoplasmic reticulum stress
cell redox homeostasis
oxidation-reduction process
regulation of oxidative stress-induced intrinsic apoptotic signaling pathway

Function(s)

protein disulfide isomerase activity
steroid binding
protein binding
disulfide oxidoreductase activity
peptidyl-proline 4-dioxygenase activity