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	ABCA3 MIR5587 CRAMP1 HAGHL NUBP2 NHLRC4 SNHG19 WDR24 RPL3L TSC2 RAB26 WFIKKN1 HBA1 TPSG1 LINC00235 E4F1 WDR90 RHBDF1 MIR6859-4 LOC105371038 ATP6V0C TPSAB1 MCRIP2 MRPS34 NME3 LINC00254 MPG TELO2 SPSB3 MIR3677 LOC106660606 NTHL1 ZNF598 HBM MLST8 GNPTG SSTR5 CASKIN1 UNKL PTX4 CAPN15 TPSD1 ECI1 PDIA2 DNASE1L2 NDUFB10 MEIOB PKD1 MIR940 EME2 RAB11FIP3 LMF1 SNRNP25 PIGQ LMF1-AS1 CCNF CCDC78 IFT140 LOC107984876 SNHG9 C16orf91 HAGH BAIAP3 SYNGR3 TBL3 HS3ST6 ARHGDIG RNF151 DDX11L10 LOC105371047 SOX8 MIR3177 GNG13 HBQ1 NPRL3 FAM173A SLC9A3R2 SNORA64 NME4 RHBDL1 RHOT2 CACNA1H TSR3 C1QTNF8 RPS2 RPL23AP5 MIR1225 METRN RPUSD1 MIR4717 RAB40C PRSS27 MIR3178 LOC105371045 MSLN PRR35 SNORD60 CHTF18 LOC105371049 AXIN1 UBE2I RGS11 LOC652276 LOC100287175 MRPL28 TBC1D24 PGP C16orf59 LOC107987233 HN1L CEMP1 FAHD1 MSRB1 ABCA17P MIR6511B1 STUB1 SNORA78 NPW PDPK1 ERVK13-1 MIR662 JMJD8 TMEM8A SSTR5-AS1 AMDHD2 MIR6768 DECR2 METTL26 WASIR2 CCDC154 CLCN7 IGFALS NTN3 FAM234A TPSB2 GFER RNPS1 MIR3180-5 MIR3176 LOC100134368 MAPK8IP3 NARFL KCTD5 PRR25 NOXO1 HBZ LOC105371046 PRSS29P TMEM204 LOC729652 MIR4516 FLJ42627 LUC7L TRAF7 SNORA10 LOC105371184 FBXL16 BRICD5 LOC101929280 HBA2 MIR6767 POLR3K
nsv570952	Chr.16:281959 - 286916 on Build GRCh38	Loss	ARHGDIG PDIA2
esv3637563	Chr.16:263248 - 505590 on Build GRCh38	Gain	TMEM8A RPL23AP5 NME4 AXIN1 FAM234A RGS11 MRPL28 DECR2 RAB11FIP3 ARHGDIG LOC100134368 PDIA2
nsv952896	Chr.16:273501 - 321500 on Build GRCh38	Deletion	AXIN1 RGS11 ARHGDIG PDIA2
nsv570949	Chr.16:279671 - 284580 on Build GRCh38	Loss	ARHGDIG PDIA2
nsv827477	Chr.16:262247 - 297639 on Build GRCh38	Gain	AXIN1 FAM234A RGS11 ARHGDIG PDIA2
nsv570947	Chr.16:272935 - 297326 on Build GRCh38	Loss	AXIN1 RGS11 ARHGDIG PDIA2
dgv4808n54	Chr.16:279211 - 287691 on Build GRCh38	Loss	AXIN1 ARHGDIG PDIA2
dgv32n68	Chr.16:245507 - 476226 on Build GRCh38	Loss	TMEM8A RPL23AP5 NME4 AXIN1 FAM234A RGS11 MRPL28 DECR2 RAB11FIP3 ARHGDIG LOC100134368 PDIA2

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