PFDN5
gene geneOn this page
Also known as PFD5MM-1
Summary
PFDN5 (prefoldin subunit 5, HGNC:8869) is a protein-coding gene on chromosome 12q13.13, encoding Prefoldin subunit 5 (Q99471). Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. It is a selective cancer dependency (DepMap: 78.1% of cell lines).
This gene encodes a member of the prefoldin alpha 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. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described.
Source: NCBI Gene 5204 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 9 total
- Cancer dependency (DepMap): dependent in 78.1% of screened cell lines
- MANE Select transcript:
NM_002624
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8869 |
| Approved symbol | PFDN5 |
| Name | prefoldin subunit 5 |
| Location | 12q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PFD5, MM-1 |
| Ensembl gene | ENSG00000123349 |
| Ensembl biotype | protein_coding |
| OMIM | 604899 |
| Entrez | 5204 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 16 retained_intron, 9 protein_coding, 3 nonsense_mediated_decay
ENST00000243040, ENST00000334478, ENST00000351500, ENST00000547130, ENST00000547228, ENST00000548984, ENST00000549759, ENST00000549995, ENST00000550069, ENST00000550513, ENST00000550846, ENST00000550880, ENST00000550964, ENST00000551018, ENST00000551223, ENST00000552341, ENST00000552548, ENST00000552742, ENST00000553171, ENST00000628881, ENST00000676468, ENST00000677184, ENST00000677199, ENST00000677326, ENST00000677712, ENST00000678256, ENST00000678284, ENST00000935332
RefSeq mRNA: 2 — MANE Select: NM_002624
NM_002624, NM_145897
CCDS: CCDS8853, CCDS8854
Canonical transcript exons
ENST00000334478 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000838249 | 53296244 | 53296275 |
| ENSE00003481121 | 53299269 | 53299450 |
| ENSE00003526800 | 53295542 | 53295639 |
| ENSE00003561223 | 53298045 | 53298150 |
| ENSE00003570076 | 53295839 | 53295941 |
| ENSE00003609680 | 53297850 | 53297924 |
Expression profiles
Bgee: expression breadth ubiquitous, 147 present calls, max score 99.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 291.8818 / max 2953.2634, expressed in 1827 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 125736 | 291.1618 | 1827 |
| 125737 | 0.7200 | 445 |
Top tissues by expression
147 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pituitary gland | UBERON:0000007 | 99.71 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.71 | gold quality |
| granulocyte | CL:0000094 | 99.69 | gold quality |
| left testis | UBERON:0004533 | 99.69 | gold quality |
| endocervix | UBERON:0000458 | 99.68 | gold quality |
| amygdala | UBERON:0001876 | 99.68 | gold quality |
| nucleus accumbens | UBERON:0001882 | 99.68 | gold quality |
| hypothalamus | UBERON:0001898 | 99.68 | gold quality |
| right testis | UBERON:0004534 | 99.68 | gold quality |
| monocyte | CL:0000576 | 99.67 | gold quality |
| leukocyte | CL:0000738 | 99.67 | gold quality |
| right uterine tube | UBERON:0001302 | 99.67 | gold quality |
| substantia nigra | UBERON:0002038 | 99.67 | gold quality |
| left ovary | UBERON:0002119 | 99.67 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.67 | gold quality |
| ovary | UBERON:0000992 | 99.66 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.66 | gold quality |
| temporal lobe | UBERON:0001871 | 99.66 | gold quality |
| putamen | UBERON:0001874 | 99.66 | gold quality |
| thyroid gland | UBERON:0002046 | 99.66 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.66 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.65 | gold quality |
| caudate nucleus | UBERON:0001873 | 99.64 | gold quality |
| Ammon’s horn | UBERON:0001954 | 99.64 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.64 | gold quality |
| right ovary | UBERON:0002118 | 99.63 | gold quality |
| corpus callosum | UBERON:0002336 | 99.63 | gold quality |
| prostate gland | UBERON:0002367 | 99.62 | gold quality |
| fallopian tube | UBERON:0003889 | 99.62 | gold quality |
| body of uterus | UBERON:0009853 | 99.62 | gold quality |
Single-cell (SCXA)
Detected in 16 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 52.69 |
| E-HCAD-9 | yes | 29.55 |
| E-MTAB-10042 | yes | 12.14 |
| E-CURD-89 | no | 1229.67 |
| E-MTAB-8205 | no | 1199.89 |
| E-MTAB-7381 | no | 797.47 |
| E-CURD-53 | no | 666.89 |
| E-HCAD-4 | no | 215.36 |
| E-HCAD-1 | no | 78.12 |
| E-HCAD-8 | no | 50.67 |
| E-MTAB-6701 | no | 35.30 |
| E-MTAB-9467 | no | 30.21 |
| E-CURD-46 | no | 26.71 |
| E-MTAB-8410 | no | 12.15 |
| E-GEOD-125970 | no | 6.23 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
3 targeting PFDN5, 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-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-3189-5P | 97.55 | 66.71 | 655 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 78.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 9)
- Physical interaction of p73 with c-Myc and MM1, a c-Myc-binding protein, and modulation of the p73 function. (PMID:11844794)
- MM-1alpha, MM-1gamma, and MM-1gamma, but not MM-1beta, were found to repress transcription activity of c-Myc (PMID:16173081)
- Wnt4 gene, a member of the Wnt-beta-catenin pathway, was identified as a target gene of MM-1. (PMID:18281035)
- MM-1, a c-Myc interacting protein, interacts with HCV ARFP/F protein, which can result in the enhancement of the c-Myc activity. (PMID:18398700)
- Rabring7 stimulates c-Myc degradation via mono-ubiquitination of MM-1 (PMID:22844532)
- 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)
- Results from a study on gene expression variability markers in early-stage human embryos shows that PFDN5 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
- Lysine demethylase 5C inhibits transcription of prefoldin subunit 5 to activate c-Myc signal transduction and colorectal cancer progression. (PMID:38216914)
- PFDN5 plays a dual role in breast cancer and regulates tumor immune microenvironment: Insights from integrated bioinformatics analysis and experimental validation. (PMID:39396557)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pfdn5 | ENSDARG00000035043 |
| mus_musculus | Pfdn5 | ENSMUSG00000001289 |
| rattus_norvegicus | Pfdn5 | ENSRNOG00000012985 |
| drosophila_melanogaster | Pfdn5 | FBGN0038976 |
| caenorhabditis_elegans | WBGENE00020112 |
Protein
Protein identifiers
Prefoldin subunit 5 — Q99471 (reviewed: Q99471)
Alternative names: Myc modulator 1, c-Myc-binding protein Mm-1
All UniProt accessions (7): A0A0D9SFR8, A0A7I2V5H9, Q99471, F8VNW6, F8VQZ2, H3BMQ1, H3BPF6
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. Represses the transcriptional activity of MYC.
Subunit / interactions. Heterohexamer of two PFD-alpha type and four PFD-beta type subunits. Binds to MYC; interacts with its N-terminal domain.
Subcellular location. Nucleus Cytoplasm Nucleus.
Tissue specificity. Highly expressed in pancreas and skeletal muscle and moderately in other tissues.
Miscellaneous. Does not repress transcription activity of MYC.
Similarity. Belongs to the prefoldin subunit alpha family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99471-1 | 1, MM1-alpha | yes |
| Q99471-2 | 2, MM1-beta | |
| Q99471-3 | 3, MM1-gamma |
RefSeq proteins (2): NP_002615, NP_665904 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004127 | Prefoldin_subunit_alpha | Family |
| IPR009053 | Prefoldin | Homologous_superfamily |
| IPR011599 | PFD_alpha_archaea | Family |
Pfam: PF02996
UniProt features (7 total): modified residue 3, splice variant 2, initiator methionine 1, chain 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-Q99471-F1 | 92.45 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 2, 42, 56
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: 187 (showing top):
ENK_UV_RESPONSE_KERATINOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_PROTEIN_MATURATION, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_PROTEIN_STABILIZATION, GOBP_PROTEIN_FOLDING, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, AFFAR_YY1_TARGETS_DN, GOBP_SENSORY_ORGAN_DEVELOPMENT
GO Biological Process (9): regulation of DNA-templated transcription (GO:0006355), protein folding (GO:0006457), negative regulation of DNA-templated transcription (GO:0045892), retina development in camera-type eye (GO:0060041), negative regulation of canonical Wnt signaling pathway (GO:0090090), negative regulation of amyloid fibril formation (GO:1905907), RNA polymerase I assembly (GO:1990113), RNA polymerase II core complex assembly (GO:1990114), RNA polymerase III assembly (GO:1990115)
GO Molecular Function (4): amyloid-beta binding (GO:0001540), transcription corepressor activity (GO:0003714), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), prefoldin complex (GO:0016272), intermediate filament cytoskeleton (GO:0045111), 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 |
|---|---|
| protein-containing complex assembly | 3 |
| DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cellular process | 1 |
| protein maturation | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 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 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
| cytoskeleton | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
2251 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PFDN5 | VBP1 | P61758 | 988 |
| PFDN5 | PFDN4 | Q9NQP4 | 987 |
| PFDN5 | PFDN6 | O15212 | 984 |
| PFDN5 | PFDN1 | O60925 | 980 |
| PFDN5 | PFDN2 | Q9UHV9 | 912 |
| PFDN5 | MYC | P01106 | 781 |
| PFDN5 | UXT | Q9UBK9 | 753 |
| PFDN5 | TCP1 | P17987 | 657 |
| PFDN5 | PDRG1 | Q9NUG6 | 601 |
| PFDN5 | MYG1 | Q9HB07 | 590 |
| PFDN5 | SLC61A1 | Q6N075 | 560 |
| PFDN5 | URI1 | O94763 | 540 |
| PFDN5 | CCT7 | Q99832 | 536 |
| PFDN5 | CSTPP1 | Q9H6J7 | 524 |
| PFDN5 | LCA5L | O95447 | 497 |
IntAct
485 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IKZF3 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PFDN5 | IKZF3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PFDN4 | PFDN6 | psi-mi:“MI:0914”(association) | 0.730 |
| DDB2 | CCT2 | psi-mi:“MI:0914”(association) | 0.730 |
| PSME3 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PFDN5 | PSME3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PFDN5 | vIRF-3 | psi-mi:“MI:0915”(physical association) | 0.680 |
| vIRF-3 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.680 |
| vIRF-3 | PFDN5 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| PFDN5 | vIRF-3 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| PFDN5 | CALCOCO2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| VBP1 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| GLRX3 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PFDN5 | GLRX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BHLHE40 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| PFDN5 | FAM110A | psi-mi:“MI:0915”(physical association) | 0.560 |
| NTAQ1 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PFDN5 | SCNM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNB2 | PFDN6 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (432): PFDN5 (Affinity Capture-MS), PSME3 (Two-hybrid), CALCOCO2 (Two-hybrid), GLRX3 (Two-hybrid), IKZF3 (Two-hybrid), PFDN5 (Affinity Capture-MS), PFDN5 (Affinity Capture-MS), PFDN5 (Affinity Capture-MS), PFDN5 (Affinity Capture-MS), PFDN5 (Affinity Capture-MS), FLNA (Co-fractionation), GFPT1 (Co-fractionation), PFDN5 (Co-fractionation), PFDN5 (Co-fractionation), PFDN5 (Co-fractionation)
ESM2 similar proteins: A7T0W1, A8WVJ9, A8X0Z1, A8XPL7, A8Y197, O14334, O14450, O15212, O18054, O94307, P40005, P48363, P52553, P52554, P57741, P57742, P61758, P61759, Q03958, Q04493, Q10143, Q12ZJ7, Q17435, Q17827, Q17Q89, Q21993, Q2HIK4, Q2TBR6, Q2TBX2, Q54JS0, Q54LS2, Q54V55, Q55GN3, Q5RAY0, Q5RCG9, Q5TJE6, Q61SU8, Q8HYI9, Q8I3Y6, Q99471
Diamond homologs: A8XPL7, O94307, P57742, Q04493, Q21993, Q54V55, Q5RAY0, Q8HYI9, Q99471, Q9VCZ8, Q9WU28, A0B9G1, A1RXA9, Q0W5H4, O58263, Q5JIE3, Q8U3T0, Q8PYQ1, A5UL29, B0R7X6, B6YWD9, B9LUU4, O66961, Q12ZJ7, Q18EV0, Q2NGQ5, Q3IUJ7, Q46F99, Q58362, Q5JE63, Q5UY26, Q8TIN6, Q8TUY7, Q9HMN2, Q54ND3, A0RUF1, A2STI6, A3CWZ2, A6UQB4, A6UWR8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PFDN5 | “form complex” | “Prefoldin co-chaperone” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 139 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 |
|---|---|---|---|
| Prefoldin mediated transfer of substrate to CCT/TriC | 7 | 40.0× | 1e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
9 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
659 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:53295940:GG:G | donor_gain | 1.0000 |
| 12:53295941:GG:G | donor_gain | 1.0000 |
| 12:53297849:GAT:G | acceptor_gain | 1.0000 |
| 12:53297926:T:A | donor_loss | 1.0000 |
| 12:53298040:T:A | acceptor_gain | 1.0000 |
| 12:53298041:GTAG:G | acceptor_loss | 1.0000 |
| 12:53298043:A:AG | acceptor_gain | 1.0000 |
| 12:53298044:G:GA | acceptor_gain | 1.0000 |
| 12:53298044:GA:G | acceptor_gain | 1.0000 |
| 12:53298044:GAC:G | acceptor_gain | 1.0000 |
| 12:53298044:GACA:G | acceptor_gain | 1.0000 |
| 12:53298146:ACAGG:A | donor_gain | 1.0000 |
| 12:53298147:CAGG:C | donor_gain | 1.0000 |
| 12:53298147:CAGGG:C | donor_loss | 1.0000 |
| 12:53298148:AGG:A | donor_gain | 1.0000 |
| 12:53298149:GG:G | donor_gain | 1.0000 |
| 12:53298149:GGG:G | donor_gain | 1.0000 |
| 12:53298150:GG:G | donor_gain | 1.0000 |
| 12:53298151:G:GG | donor_gain | 1.0000 |
| 12:53298151:G:T | donor_gain | 1.0000 |
| 12:53298151:GTA:G | donor_loss | 1.0000 |
| 12:53299267:A:AG | acceptor_gain | 1.0000 |
| 12:53299268:G:GC | acceptor_gain | 1.0000 |
| 12:53299268:GCC:G | acceptor_gain | 1.0000 |
| 12:53295635:ACCAG:A | donor_loss | 0.9900 |
| 12:53295636:CCAGG:C | donor_loss | 0.9900 |
| 12:53295637:CAGGT:C | donor_loss | 0.9900 |
| 12:53295638:AG:A | donor_loss | 0.9900 |
| 12:53295639:GG:G | donor_loss | 0.9900 |
| 12:53295640:GTG:G | donor_loss | 0.9900 |
AlphaMissense
1026 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:53296259:T:A | V64D | 1.000 |
| 12:53297857:T:A | V72D | 1.000 |
| 12:53297901:G:A | G87R | 1.000 |
| 12:53297901:G:C | G87R | 1.000 |
| 12:53297902:G:A | G87E | 1.000 |
| 12:53297902:G:T | G87V | 1.000 |
| 12:53295611:T:C | L15P | 0.999 |
| 12:53295620:T:C | L18P | 0.999 |
| 12:53295632:T:C | L22P | 0.999 |
| 12:53295860:T:C | S32P | 0.999 |
| 12:53295873:T:C | L36P | 0.999 |
| 12:53295902:G:C | A46P | 0.999 |
| 12:53296265:T:C | L66P | 0.999 |
| 12:53297862:G:A | G74R | 0.999 |
| 12:53297862:G:C | G74R | 0.999 |
| 12:53297862:G:T | G74W | 0.999 |
| 12:53297863:G:A | G74E | 0.999 |
| 12:53298057:G:C | A99P | 0.999 |
| 12:53298058:C:A | A99D | 0.999 |
| 12:53298080:G:C | K106N | 0.999 |
| 12:53298080:G:T | K106N | 0.999 |
| 12:53298091:T:C | L110P | 0.999 |
| 12:53298124:T:C | L121P | 0.999 |
| 12:53299272:T:A | V131D | 0.999 |
| 12:53295885:A:C | Q40P | 0.998 |
| 12:53296262:C:A | P65Q | 0.998 |
| 12:53297890:T:C | L83P | 0.998 |
| 12:53297899:T:A | V86E | 0.998 |
| 12:53297902:G:C | G87A | 0.998 |
| 12:53297907:G:T | G89W | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000658582 (12:53299549 T>C), RS1000872246 (12:53297837 T>C), RS1001310089 (12:53294360 C>T), RS1001886505 (12:53293652 A>T), RS1002146273 (12:53299013 G>C), RS1002159135 (12:53298887 G>A), RS1002540669 (12:53296417 T>C), RS1002591722 (12:53296191 T>A), RS1003212322 (12:53297895 G>A), RS1003286789 (12:53299148 A>G), RS1004252513 (12:53294684 G>A), RS1004415213 (12:53299884 G>A,T), RS1004668312 (12:53294435 A>C), RS1006339538 (12:53296121 A>C,G), RS1006609964 (12:53298433 C>A,T)
Disease associations
OMIM: gene MIM:604899 | 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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| Arsenic | increases expression, decreases expression, affects methylation, affects cotreatment, increases abundance | 2 |
| Benzo(a)pyrene | increases methylation, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| biochanin A | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| methylselenic acid | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| chloropicrin | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Ethanol | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Calcitriol | increases expression | 1 |
| Carbon Tetrachloride | decreases expression | 1 |
| Cisplatin | affects expression, affects reaction | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Folic Acid | affects expression, affects reaction | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ouabain | affects expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Vitamin E | increases expression | 1 |
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.