PDIA5
gene geneOn this page
Also known as PDIRFLJ30401
Summary
PDIA5 (protein disulfide isomerase family A member 5, HGNC:24811) is a protein-coding gene on chromosome 3q21.1, encoding Protein disulfide-isomerase A5 (Q14554).
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants.
Source: NCBI Gene 10954 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 112 total
- Druggable target: yes
- MANE Select transcript:
NM_006810
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24811 |
| Approved symbol | PDIA5 |
| Name | protein disulfide isomerase family A member 5 |
| Location | 3q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PDIR, FLJ30401 |
| Ensembl gene | ENSG00000065485 |
| Ensembl biotype | protein_coding |
| OMIM | 616942 |
| Entrez | 10954 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000316218, ENST00000467157, ENST00000469649, ENST00000472319, ENST00000484644, ENST00000485208, ENST00000489923, ENST00000495004, ENST00000872609, ENST00000872610, ENST00000933695
RefSeq mRNA: 1 — MANE Select: NM_006810
NM_006810
CCDS: CCDS3020
Canonical transcript exons
ENST00000316218 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001078808 | 123110944 | 123111004 |
| ENSE00001078828 | 123130480 | 123130616 |
| ENSE00001149277 | 123116231 | 123116298 |
| ENSE00001866959 | 123067025 | 123067206 |
| ENSE00003462824 | 123106749 | 123106841 |
| ENSE00003469190 | 123150234 | 123150364 |
| ENSE00003486364 | 123161880 | 123162104 |
| ENSE00003493250 | 123146099 | 123146259 |
| ENSE00003497134 | 123102411 | 123102494 |
| ENSE00003500252 | 123102751 | 123102796 |
| ENSE00003501781 | 123145522 | 123145592 |
| ENSE00003516624 | 123089168 | 123089294 |
| ENSE00003553395 | 123092355 | 123092442 |
| ENSE00003590493 | 123161321 | 123161455 |
| ENSE00003590930 | 123124272 | 123124343 |
| ENSE00003662909 | 123124066 | 123124157 |
| ENSE00003679611 | 123154971 | 123155041 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 95.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2298 / max 347.1718, expressed in 1792 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38274 | 16.6031 | 1739 |
| 38273 | 4.6267 | 1562 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| liver | UBERON:0002107 | 95.65 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.64 | gold quality |
| placenta | UBERON:0001987 | 94.69 | gold quality |
| pylorus | UBERON:0001166 | 94.51 | gold quality |
| type B pancreatic cell | CL:0000169 | 93.93 | silver quality |
| stromal cell of endometrium | CL:0002255 | 92.70 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.20 | gold quality |
| decidua | UBERON:0002450 | 91.58 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.06 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.03 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.02 | gold quality |
| stomach | UBERON:0000945 | 90.88 | gold quality |
| body of pancreas | UBERON:0001150 | 90.83 | gold quality |
| body of stomach | UBERON:0001161 | 90.81 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.66 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.63 | gold quality |
| adrenal gland | UBERON:0002369 | 90.54 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.53 | gold quality |
| rectum | UBERON:0001052 | 90.49 | gold quality |
| secondary oocyte | CL:0000655 | 90.47 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.10 | gold quality |
| tibia | UBERON:0000979 | 90.02 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.95 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.86 | gold quality |
| pancreas | UBERON:0001264 | 89.84 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.78 | gold quality |
| bone marrow cell | CL:0002092 | 89.74 | gold quality |
| gall bladder | UBERON:0002110 | 89.65 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 89.61 | gold quality |
| thyroid gland | UBERON:0002046 | 89.55 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 19.76 |
| E-ANND-3 | yes | 12.75 |
| E-GEOD-137537 | yes | 3.73 |
| E-CURD-10 | no | 108.12 |
| E-MTAB-4850 | no | 10.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting PDIA5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
| HSA-MIR-522-3P | 98.91 | 68.56 | 1817 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-3187-3P | 97.38 | 65.80 | 904 |
Literature-anchored findings (GeneRIF, showing 9)
- Three thioredoxin motifs (CXXC) of purified PDIR were found to contribute to its isomerase activity. (PMID:14627699)
- Protein disulfide isomerases are enzymes that mediate oxidative protein folding in the endoplasmic reticulum. (PMID:20796029)
- protein disulfide isomerase 5 is deregulated in the mucopolysaccharidoses, although the unfolded protein response is not activated (PMID:22002444)
- This study demonistrated that Protein disulfide isomerase P5-immunopositive inclusions in patients with Alzheimer’s disease. (PMID:24037032)
- PDIA5 is a key regulator ATF6alpha-mediated cellular functions in cancer. (PMID:24636989)
- Data suggest that upon activation of integrins, protein disulfide isomerase (PDI) is released from endothelial cells and forms a disulfide bond complex with alphaVbeta3 integrin. (PMID:29293453)
- PDIA5 is Correlated With Immune Infiltration and Predicts Poor Prognosis in Gliomas. (PMID:33664747)
- Pan-Cancer Analysis of the Immunological Role of PDIA5: A Potential Target for Immunotherapy. (PMID:36003400)
- RUNX1-PDIA5 Axis Promotes Malignant Progression of Glioblastoma by Regulating CCAR1 Protein Expression. (PMID:39247813)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pdia5 | ENSDARG00000069242 |
| mus_musculus | Pdia5 | ENSMUSG00000022844 |
| rattus_norvegicus | Pdia5 | ENSRNOG00000032327 |
| drosophila_melanogaster | CG9302 | FBGN0032514 |
| caenorhabditis_elegans | WBGENE00003962 | |
| caenorhabditis_elegans | M04D5.1 | WBGENE00014807 |
Paralogs (13): ERP44 (ENSG00000023318), TMX4 (ENSG00000125827), ERP27 (ENSG00000139055), TMX1 (ENSG00000139921), PDIA6 (ENSG00000143870), TXNDC11 (ENSG00000153066), PDIA4 (ENSG00000155660), TMX3 (ENSG00000166479), PDIA3 (ENSG00000167004), PDILT (ENSG00000169340), PDIA2 (ENSG00000185615), P4HB (ENSG00000185624), TXNDC5 (ENSG00000239264)
Protein
Protein identifiers
Protein disulfide-isomerase A5 — Q14554 (reviewed: Q14554)
Alternative names: Protein disulfide isomerase-related protein
All UniProt accessions (3): Q14554, C9JY10, H7C4F9
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with CALR (via P-domain).
Subcellular location. Endoplasmic reticulum lumen.
Similarity. Belongs to the protein disulfide isomerase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14554-1 | 1 | yes |
| Q14554-2 | 2 |
RefSeq proteins (1): NP_006801* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013766 | Thioredoxin_domain | Domain |
| IPR017937 | Thioredoxin_CS | Conserved_site |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR041865 | PDI_b_PDIR_N | Domain |
| IPR046374 | PDI_a_PDIR | Domain |
| IPR051063 | PDI | Family |
Pfam: PF00085
UniProt features (22 total): helix 4, strand 4, disulfide bond 4, domain 3, splice variant 2, signal peptide 1, chain 1, sequence variant 1, turn 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4I6X | X-RAY DIFFRACTION | 1.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14554-F1 | 89.49 | 0.74 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (4): 85–94, 182–185, 305–308, 426–429
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-381038 | XBP1(S) activates chaperone genes |
MSigDB gene sets: 191 (showing top):
REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GRUETZMANN_PANCREATIC_CANCER_DN, TGCGCANK_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GGGTGGRR_PAX4_03, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_PROTEIN_MATURATION, GOBP_ELECTRON_TRANSPORT_CHAIN, GOBP_PROTEIN_FOLDING, BROWN_MYELOID_CELL_DEVELOPMENT_DN, chr3q21, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, MILI_PSEUDOPODIA_CHEMOTAXIS_DN
GO Biological Process (2): protein folding (GO:0006457), electron transport chain (GO:0022900)
GO Molecular Function (5): protein disulfide isomerase activity (GO:0003756), protein-disulfide reductase activity (GO:0015035), oxidoreductase activity (GO:0016491), protein binding (GO:0005515), isomerase activity (GO:0016853)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| IRE1alpha activates chaperones | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| catalytic activity, acting on a protein | 2 |
| catalytic activity | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| generation of precursor metabolites and energy | 1 |
| intramolecular oxidoreductase activity, transposing S-S bonds | 1 |
| disulfide oxidoreductase activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
1719 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PDIA5 | ATF6 | P18850 | 701 |
| PDIA5 | ERP27 | Q96DN0 | 558 |
| PDIA5 | TXNDC12 | O95881 | 548 |
| PDIA5 | ERP29 | P30040 | 519 |
| PDIA5 | HSPA5 | P11021 | 488 |
| PDIA5 | ERO1B | Q86YB8 | 478 |
| PDIA5 | HYOU1 | Q9Y4L1 | 475 |
| PDIA5 | TMX4 | Q9H1E5 | 463 |
| PDIA5 | ABHD5 | Q8WTS1 | 437 |
| PDIA5 | CNDP2 | Q96KP4 | 431 |
| PDIA5 | SEC22A | Q96IW7 | 429 |
| PDIA5 | DNAJB9 | Q9UBS3 | 423 |
| PDIA5 | TMX2 | Q9Y320 | 417 |
| PDIA5 | AGR3 | Q8TD06 | 415 |
| PDIA5 | MARCO | Q9UEW3 | 411 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| MUCL1 | PDIA5 | psi-mi:“MI:0914”(association) | 0.640 |
| KRTAP10-7 | PDIA5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDIA5 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| MDFI | PDIA5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDIA5 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| PDIA5 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANTXR1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| LGMN | ATG7 | psi-mi:“MI:0914”(association) | 0.530 |
| NENF | BLVRB | psi-mi:“MI:0914”(association) | 0.530 |
| RNASET2 | PDIA5 | psi-mi:“MI:0914”(association) | 0.530 |
| CST6 | CTSV | psi-mi:“MI:0914”(association) | 0.530 |
| CCL22 | PLXNA2 | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| ANTXR1 | WFS1 | psi-mi:“MI:0914”(association) | 0.530 |
| TOR1AIP1 | TXN | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (144): PDIA5 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-3 (Two-hybrid), PDIA5 (Affinity Capture-RNA), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS)
ESM2 similar proteins: A2VE29, A6QLU8, D3Z6P0, H2N4I1, O00391, O08841, P04785, P05307, P07237, P08003, P09102, P09103, P13667, P21195, P30040, P38657, P38659, P57759, P81628, P97278, P97346, Q0VCM5, Q13087, Q14554, Q29052, Q2HWU2, Q2KIL5, Q499T2, Q4VIT4, Q503L9, Q5E936, Q5I0H9, Q5R5B6, Q5RCH2, Q5WA72, Q61702, Q67IX6, Q6DKJ4, Q6GM16, Q6IUU3
Diamond homologs: A0A8M1N5Y4, D3Z6P0, D4B2L8, G4NFB7, H2N4I1, O00391, O08841, O13704, O13811, O22263, O48773, P00275, P04785, P05307, P07237, P08003, P09102, P09103, P0A4L1, P0A4L2, P11598, P12243, P12865, P13667, P17967, P21195, P23400, P27773, P29828, P30101, P32474, P34329, P38657, P38658, P38659, P38660, P38661, P46843, P52230, P52588
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Innate Immune System | 12 | 4.3× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3487 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:123083637:G:GT | donor_gain | 1.0000 |
| 3:123102495:G:GG | donor_gain | 1.0000 |
| 3:123106747:A:AG | acceptor_gain | 1.0000 |
| 3:123106748:G:GA | acceptor_gain | 1.0000 |
| 3:123106748:GTCC:G | acceptor_gain | 1.0000 |
| 3:123106838:AAAGG:A | donor_loss | 1.0000 |
| 3:123106839:AAGG:A | donor_loss | 1.0000 |
| 3:123106840:AG:A | donor_loss | 1.0000 |
| 3:123106841:GGTA:G | donor_loss | 1.0000 |
| 3:123106842:G:T | donor_loss | 1.0000 |
| 3:123106843:T:G | donor_loss | 1.0000 |
| 3:123111005:G:GG | donor_gain | 1.0000 |
| 3:123124154:T:G | donor_gain | 1.0000 |
| 3:123124154:T:TG | donor_gain | 1.0000 |
| 3:123124156:GA:G | donor_gain | 1.0000 |
| 3:123124158:G:GG | donor_gain | 1.0000 |
| 3:123124262:C:CA | acceptor_gain | 1.0000 |
| 3:123124262:C:G | acceptor_gain | 1.0000 |
| 3:123124340:AGAA:A | donor_gain | 1.0000 |
| 3:123124341:GAA:G | donor_gain | 1.0000 |
| 3:123124341:GAAG:G | donor_gain | 1.0000 |
| 3:123124344:G:GG | donor_gain | 1.0000 |
| 3:123124345:T:A | donor_loss | 1.0000 |
| 3:123130612:CCCAT:C | donor_gain | 1.0000 |
| 3:123130617:G:GG | donor_gain | 1.0000 |
| 3:123145518:ACAG:A | acceptor_gain | 1.0000 |
| 3:123145519:CAGGG:C | acceptor_loss | 1.0000 |
| 3:123145520:AG:A | acceptor_gain | 1.0000 |
| 3:123145521:GG:G | acceptor_gain | 1.0000 |
| 3:123145521:GGGT:G | acceptor_gain | 1.0000 |
AlphaMissense
3437 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:123106791:T:A | W144R | 0.996 |
| 3:123106791:T:C | W144R | 0.996 |
| 3:123106793:G:C | W144C | 0.995 |
| 3:123106793:G:T | W144C | 0.995 |
| 3:123089274:T:C | L50P | 0.993 |
| 3:123150347:T:A | V419D | 0.993 |
| 3:123130599:T:A | V298D | 0.992 |
| 3:123106819:T:A | V153D | 0.989 |
| 3:123116275:G:C | A196P | 0.988 |
| 3:123089257:A:C | R44S | 0.987 |
| 3:123089257:A:T | R44S | 0.987 |
| 3:123102773:T:G | Y122D | 0.987 |
| 3:123130605:T:C | F300S | 0.986 |
| 3:123146115:C:A | A333E | 0.986 |
| 3:123146117:G:C | A334P | 0.986 |
| 3:123146121:T:A | V335D | 0.986 |
| 3:123102433:T:A | C94S | 0.985 |
| 3:123102433:T:C | C94R | 0.985 |
| 3:123102434:G:C | C94S | 0.985 |
| 3:123102490:T:G | Y113D | 0.985 |
| 3:123106761:T:C | F134L | 0.984 |
| 3:123106763:T:A | F134L | 0.984 |
| 3:123106763:T:G | F134L | 0.984 |
| 3:123130519:G:C | W271C | 0.984 |
| 3:123130519:G:T | W271C | 0.984 |
| 3:123130596:T:C | L297P | 0.984 |
| 3:123106750:C:T | S130F | 0.983 |
| 3:123124073:C:A | A206D | 0.983 |
| 3:123161334:C:A | A453D | 0.983 |
| 3:123116242:T:C | C185R | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000014097 (3:123154316 C>T), RS1000070658 (3:123160282 C>G,T), RS1000093544 (3:123119737 G>A), RS1000110187 (3:123149258 G>A), RS1000147126 (3:123098580 G>A), RS1000165896 (3:123107557 A>G), RS1000238439 (3:123107990 G>A), RS1000245816 (3:123071955 A>G,T), RS1000255189 (3:123154625 C>T), RS1000359369 (3:123101190 A>G), RS1000381945 (3:123095855 G>A), RS1000382957 (3:123136945 T>C), RS1000428022 (3:123148834 G>A), RS1000467757 (3:123090901 C>G), RS1000484562 (3:123160099 G>A)
Disease associations
OMIM: gene MIM:616942 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001337_12 | Platelet count | 4.000000e-09 |
| GCST003194_30 | Fibrinogen levels | 2.000000e-08 |
| GCST004121_24 | Fibrinogen levels | 8.000000e-09 |
| GCST004122_17 | Fibrinogen levels | 1.000000e-07 |
| GCST004442_16 | Interleukin-17 levels | 5.000000e-10 |
| GCST004599_79 | Mean platelet volume | 1.000000e-32 |
| GCST004603_252 | Platelet count | 2.000000e-28 |
| GCST004607_257 | Plateletcrit | 7.000000e-11 |
| GCST004616_143 | Platelet distribution width | 5.000000e-34 |
| GCST90002395_381 | Mean platelet volume | 2.000000e-72 |
| GCST90002400_394 | Plateletcrit | 2.000000e-15 |
| GCST90002401_122 | Platelet distribution width | 4.000000e-79 |
| GCST90002402_319 | Platelet count | 3.000000e-52 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0008174 | interleukin 17 measurement |
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067135 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 8 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| chloroacetaldehyde | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| JP8 aviation fuel | decreases expression | 1 |
| adefovir dipivoxil | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Cidofovir | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652007 | Binding | Binding affinity to human PDIA5 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2AD | Abcam HeLa PDIA5 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.