PFDN2
gene geneOn this page
Summary
PFDN2 (prefoldin subunit 2, HGNC:8867) is a protein-coding gene on chromosome 1q23.3, encoding Prefoldin subunit 2 (Q9UHV9). Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. It is a common-essential gene (DepMap: required in 99.6% of cancer cell lines).
This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils.
Source: NCBI Gene 5202 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 26 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 99.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_012394
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8867 |
| Approved symbol | PFDN2 |
| Name | prefoldin subunit 2 |
| Location | 1q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000143256 |
| Ensembl biotype | protein_coding |
| OMIM | 613466 |
| Entrez | 5202 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000368010, ENST00000468311, ENST00000851379, ENST00000918210, ENST00000918211, ENST00000918212
RefSeq mRNA: 1 — MANE Select: NM_012394
NM_012394
CCDS: CCDS1217
Canonical transcript exons
ENST00000368010 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000958900 | 161102287 | 161102375 |
| ENSE00000958901 | 161102048 | 161102171 |
| ENSE00001957682 | 161117952 | 161118037 |
| ENSE00003674485 | 161100561 | 161100859 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 98.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.9223 / max 673.2269, expressed in 1824 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15590 | 66.9223 | 1824 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.84 | gold quality |
| cortical plate | UBERON:0005343 | 98.57 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.48 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.44 | gold quality |
| spinal cord | UBERON:0002240 | 98.23 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.21 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.18 | gold quality |
| amygdala | UBERON:0001876 | 98.01 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.00 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.99 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.95 | gold quality |
| hypothalamus | UBERON:0001898 | 97.87 | gold quality |
| putamen | UBERON:0001874 | 97.77 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.72 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.72 | gold quality |
| muscle of leg | UBERON:0001383 | 97.69 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.65 | gold quality |
| substantia nigra | UBERON:0002038 | 97.65 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.56 | gold quality |
| pituitary gland | UBERON:0000007 | 97.52 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.25 | gold quality |
| midbrain | UBERON:0001891 | 97.23 | gold quality |
| omental fat pad | UBERON:0010414 | 97.23 | gold quality |
| monocyte | CL:0000576 | 97.22 | gold quality |
| peritoneum | UBERON:0002358 | 97.22 | gold quality |
| neocortex | UBERON:0001950 | 97.18 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.02 | gold quality |
| frontal cortex | UBERON:0001870 | 96.95 | gold quality |
| mononuclear cell | CL:0000842 | 96.89 | gold quality |
| forebrain | UBERON:0001890 | 96.81 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.80 |
| E-MTAB-10042 | yes | 4.06 |
| E-MTAB-9689 | no | 835.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting PFDN2, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-1233-5P | 98.19 | 66.71 | 1201 |
| HSA-MIR-6778-5P | 98.19 | 66.59 | 1239 |
| HSA-MIR-3132 | 97.96 | 67.91 | 711 |
| HSA-MIR-197-5P | 97.23 | 68.10 | 596 |
| HSA-MIR-6823-5P | 96.26 | 65.69 | 919 |
| HSA-MIR-4256 | 96.22 | 67.70 | 669 |
| HSA-MIR-11181-5P | 96.12 | 67.46 | 665 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- Is part of an RNA polymerase II-associated complex with possible chaperone activity. (PMID:19450687)
- knockdown of PFD2 and PFD5 disrupted prefoldin formation in HTT-expressing cells, resulting in accumulation of aggregates of a pathogenic form of HTT and in induction of cell death. (PMID:23720755)
- prefoldin is amplified at 1q23.3-q24.1 in bladder cancer (PMID:23914742)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pfdn2 | ENSDARG00000025391 |
| mus_musculus | Pfdn2 | ENSMUSG00000006412 |
| rattus_norvegicus | ENSRNOG00000083250 | |
| drosophila_melanogaster | Pfdn2 | FBGN0010741 |
| caenorhabditis_elegans | WBGENE00019220 |
Protein
Protein identifiers
Prefoldin subunit 2 — Q9UHV9 (reviewed: Q9UHV9)
All UniProt accessions (2): Q9UHV9, B1AQP2
UniProt curated annotations — full annotation on UniProt →
Function. Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.
Subunit / interactions. Heterohexamer of two PFD-alpha type and four PFD-beta type subunits. Component of the PAQosome complex which is responsible for the biogenesis of several protein complexes and which consists of R2TP complex members RUVBL1, RUVBL2, RPAP3 and PIH1D1, URI complex members PFDN2, PFDN6, PDRG1, UXT and URI1 as well as ASDURF, POLR2E and DNAAF10/WDR92. Interacts with URI1; the interaction is phosphorylation-dependent and occurs in a growth-dependent manner.
Subcellular location. Nucleus. Cytoplasm. Mitochondrion.
Similarity. Belongs to the prefoldin subunit beta family.
RefSeq proteins (1): NP_036526* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002777 | PFD_beta-like | Family |
| IPR009053 | Prefoldin | Homologous_superfamily |
| IPR027235 | PFD2 | Family |
Pfam: PF01920
UniProt features (7 total): sequence conflict 3, compositionally biased region 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7WU7 | ELECTRON MICROSCOPY | 3.85 |
| 6NR8 | ELECTRON MICROSCOPY | 7.8 |
| 6NRD | ELECTRON MICROSCOPY | 8.2 |
| 6NRC | ELECTRON MICROSCOPY | 8.3 |
| 6NR9 | ELECTRON MICROSCOPY | 8.5 |
| 6NRB | ELECTRON MICROSCOPY | 8.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHV9-F1 | 81.22 | 0.64 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-389957 | Prefoldin mediated transfer of substrate to CCT/TriC |
MSigDB gene sets: 138 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, USF_C, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_STABILIZATION, USF_01, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_PROTEIN_FOLDING, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, USF_02, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION
GO Biological Process (4): protein folding (GO:0006457), protein stabilization (GO:0050821), positive regulation of cytoskeleton organization (GO:0051495), negative regulation of amyloid fibril formation (GO:1905907)
GO Molecular Function (4): amyloid-beta binding (GO:0001540), protein folding chaperone (GO:0044183), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)
GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), prefoldin complex (GO:0016272), protein folding chaperone complex (GO:0101031), RPAP3/R2TP/prefoldin-like complex (GO:1990062), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| protein-containing complex | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| regulation of protein stability | 1 |
| cytoskeleton organization | 1 |
| positive regulation of organelle organization | 1 |
| regulation of cytoskeleton organization | 1 |
| negative regulation of protein metabolic process | 1 |
| negative regulation of supramolecular fiber organization | 1 |
| regulation of amyloid fibril formation | 1 |
| amyloid fibril formation | 1 |
| peptide binding | 1 |
| molecular_function | 1 |
| protein folding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| intracellular protein-containing complex | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
2042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PFDN2 | PFDN6 | O15212 | 997 |
| PFDN2 | PDRG1 | Q9NUG6 | 996 |
| PFDN2 | UXT | Q9UBK9 | 995 |
| PFDN2 | POLR2E | P19388 | 993 |
| PFDN2 | PFDN1 | O60925 | 986 |
| PFDN2 | PFDN4 | Q9NQP4 | 986 |
| PFDN2 | DNAAF10 | Q96MX6 | 982 |
| PFDN2 | URI1 | O94763 | 966 |
| PFDN2 | VBP1 | P61758 | 928 |
| PFDN2 | PFDN5 | Q99471 | 912 |
| PFDN2 | RUVBL1 | P82276 | 903 |
| PFDN2 | ACTBL2 | Q562R1 | 888 |
| PFDN2 | RUVBL2 | Q9Y230 | 884 |
| PFDN2 | RPAP3 | Q9H6T3 | 833 |
| PFDN2 | TENT4A | Q5XG87 | 776 |
IntAct
206 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VBP1 | PFDN2 | psi-mi:“MI:0915”(physical association) | 0.870 |
| PFDN5 | PFDN2 | psi-mi:“MI:0915”(physical association) | 0.850 |
| URI1 | POLR2E | psi-mi:“MI:0914”(association) | 0.850 |
| CHAF1B | CBX5 | psi-mi:“MI:0914”(association) | 0.790 |
| POLR2E | POLR1C | psi-mi:“MI:0914”(association) | 0.770 |
| PFDN2 | PFDN1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PFDN1 | PFDN2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.740 |
| PPP1CC | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.740 |
| PFDN2 | URI1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PFDN2 | PDRG1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PFDN4 | PFDN6 | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2E | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| L3MBTL2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PFDN2 | RPAP3 | psi-mi:“MI:0915”(physical association) | 0.710 |
| PPP1CA | CCDC85C | psi-mi:“MI:0914”(association) | 0.670 |
| PPP1CA | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.670 |
| PFDN2 | POLR3A | psi-mi:“MI:0914”(association) | 0.670 |
| POLR3A | PFDN2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MAPK7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (430): PFDN2 (Affinity Capture-MS), PFDN2 (Affinity Capture-MS), CD2AP (Co-fractionation), FLNA (Co-fractionation), HINT1 (Co-fractionation), NUP50 (Co-fractionation), PFDN2 (Co-fractionation), PFDN2 (Co-fractionation), PFDN2 (Co-fractionation), PFDN2 (Co-fractionation), PFDN2 (Co-fractionation), PFDN2 (Co-fractionation), PFDN2 (Co-fractionation), PFDN5 (Co-fractionation), PRKAB1 (Co-fractionation)
ESM2 similar proteins: A1A4P5, A1DGS2, A2R7Z2, B0BN18, O04350, O35685, O70591, O75347, O76031, P48427, P48428, P50502, P50503, P80584, Q07866, Q08851, Q08DB5, Q0VCY1, Q13190, Q15691, Q17QG2, Q3ZBD9, Q4SPU8, Q5D016, Q5R581, Q5R601, Q5R7N3, Q5R7Z5, Q5RF31, Q5U2U0, Q5ZLC7, Q5ZLF0, Q61166, Q63525, Q66HR2, Q66T82, Q68FJ8, Q6P848, Q6V291, Q8K1E0
Diamond homologs: A1A4P5, A8WVJ9, B0BN18, O70591, P40005, Q55GN3, Q9LJ98, Q9N5M2, Q9UHV9, Q9UTC9, Q9VTE5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PFDN2 | “form complex” | “URI1 prefoldin co-chaperone” | binding |
| PFDN2 | “form complex” | “Prefoldin co-chaperone” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 181 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 |
|---|---|---|---|
| RNA Polymerase III Chain Elongation | 7 | 39.0× | 4e-08 |
| FGFR2 mutant receptor activation | 5 | 33.4× | 7e-06 |
| RNA Polymerase III Transcription Termination | 7 | 30.5× | 2e-07 |
| RNA Polymerase III Transcription Initiation From Type 2 Promoter | 8 | 29.7× | 4e-08 |
| RNA Polymerase III Transcription Initiation From Type 1 Promoter | 8 | 28.6× | 4e-08 |
| RNA Polymerase III Transcription Initiation From Type 3 Promoter | 8 | 28.6× | 4e-08 |
| Activation of AMPK downstream of NMDARs | 8 | 26.7× | 6e-08 |
| Signaling by FGFR2 IIIa TM | 5 | 26.4× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| microtubule cytoskeleton organization | 11 | 8.7× | 2e-05 |
| protein stabilization | 16 | 7.0× | 1e-06 |
| mitotic cell cycle | 8 | 7.0× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
329 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:161100857:TAT:T | acceptor_gain | 1.0000 |
| 1:161100858:AT:A | acceptor_gain | 1.0000 |
| 1:161100860:C:CC | acceptor_gain | 1.0000 |
| 1:161100860:C:CG | acceptor_loss | 1.0000 |
| 1:161102043:CTCA:C | donor_loss | 1.0000 |
| 1:161102046:A:AC | donor_gain | 1.0000 |
| 1:161102047:C:CC | donor_gain | 1.0000 |
| 1:161102047:CCTG:C | donor_gain | 1.0000 |
| 1:161102167:CTAGG:C | acceptor_gain | 1.0000 |
| 1:161102168:TAGG:T | acceptor_gain | 1.0000 |
| 1:161102169:AGG:A | acceptor_gain | 1.0000 |
| 1:161102170:GG:G | acceptor_gain | 1.0000 |
| 1:161102172:C:CC | acceptor_gain | 1.0000 |
| 1:161102177:A:AC | acceptor_gain | 1.0000 |
| 1:161102177:A:C | acceptor_gain | 1.0000 |
| 1:161102282:CTCA:C | donor_loss | 1.0000 |
| 1:161102283:TCA:T | donor_loss | 1.0000 |
| 1:161102284:CA:C | donor_loss | 1.0000 |
| 1:161102317:G:C | donor_gain | 1.0000 |
| 1:161102371:ATCAC:A | acceptor_gain | 1.0000 |
| 1:161102372:TCAC:T | acceptor_gain | 1.0000 |
| 1:161102373:CAC:C | acceptor_gain | 1.0000 |
| 1:161102373:CACC:C | acceptor_gain | 1.0000 |
| 1:161102375:CCTA:C | acceptor_loss | 1.0000 |
| 1:161102376:CTAA:C | acceptor_loss | 1.0000 |
| 1:161102380:C:CT | acceptor_gain | 1.0000 |
| 1:161102384:G:C | acceptor_gain | 1.0000 |
| 1:161102384:G:GC | acceptor_gain | 1.0000 |
| 1:161117949:CA:C | donor_loss | 1.0000 |
| 1:161117950:A:AT | donor_loss | 1.0000 |
AlphaMissense
997 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:161100804:A:G | L115P | 1.000 |
| 1:161100825:A:G | L108P | 1.000 |
| 1:161102067:A:C | L90W | 1.000 |
| 1:161102088:A:T | V83D | 1.000 |
| 1:161102094:C:G | R81P | 1.000 |
| 1:161102103:A:G | L78P | 1.000 |
| 1:161102103:A:T | L78Q | 1.000 |
| 1:161102121:C:G | R72P | 1.000 |
| 1:161102122:G:T | R72S | 1.000 |
| 1:161102126:G:C | C70W | 1.000 |
| 1:161102127:C:T | C70Y | 1.000 |
| 1:161102128:A:G | C70R | 1.000 |
| 1:161102133:C:G | R68P | 1.000 |
| 1:161102134:G:T | R68S | 1.000 |
| 1:161102154:A:G | L61P | 1.000 |
| 1:161102167:C:T | V57M | 1.000 |
| 1:161102169:A:G | L56P | 1.000 |
| 1:161100693:A:G | L152S | 0.999 |
| 1:161100777:A:C | I124S | 0.999 |
| 1:161100777:A:T | I124N | 0.999 |
| 1:161100792:C:G | R119P | 0.999 |
| 1:161100837:A:G | L104P | 0.999 |
| 1:161102066:C:A | L90F | 0.999 |
| 1:161102066:C:G | L90F | 0.999 |
| 1:161102067:A:G | L90S | 0.999 |
| 1:161102076:A:G | L87P | 0.999 |
| 1:161102103:A:C | L78R | 0.999 |
| 1:161102112:C:A | G75V | 0.999 |
| 1:161102112:C:T | G75E | 0.999 |
| 1:161102113:C:G | G75R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000050394 (1:161119877 G>A), RS1000111474 (1:161109513 T>G), RS1000347712 (1:161102801 T>C), RS1000448521 (1:161108164 A>C), RS1000820564 (1:161104893 A>G,T), RS1000934890 (1:161104501 T>C), RS1001077302 (1:161115290 C>A,T), RS1001090256 (1:161107813 C>T), RS1001124523 (1:161111053 G>A), RS1001361497 (1:161114764 A>C), RS1001498301 (1:161110071 T>C), RS1001564603 (1:161111674 G>C), RS1001744696 (1:161104573 C>T), RS1001843079 (1:161116037 A>G), RS1001961229 (1:161116475 C>T)
Disease associations
OMIM: gene MIM:613466 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295976 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.00 | IC50 | 1e+04 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 9 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178542: Inhibition of PFDN2 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 10.0000 | uM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| bisphenol F | affects cotreatment, increases expression | 2 |
| sodium arsenite | increases expression | 2 |
| sodium arsenate | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| dinophysistoxin 1 | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118701 | Binding | Binding affinity to PFDN2 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1MV | HyCyte SK-HEP-1 KO-hPFDN2 | Cancer cell line | Male |
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.