DEUP1
geneOn this page
Also known as FLJ25393
Summary
DEUP1 (deuterosome assembly protein 1, HGNC:26344) is a protein-coding gene on chromosome 11q21, encoding Deuterosome assembly protein 1 (Q05D60). Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells.
Enables identical protein binding activity. Predicted to be involved in centriole replication and de novo centriole assembly involved in multi-ciliated epithelial cell differentiation. Predicted to be located in cytoplasm and membrane. Predicted to be active in centriole and deuterosome.
Source: NCBI Gene 159989 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 21 total
- MANE Select transcript:
NM_181645
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26344 |
| Approved symbol | DEUP1 |
| Name | deuterosome assembly protein 1 |
| Location | 11q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25393 |
| Ensembl gene | ENSG00000165325 |
| Ensembl biotype | protein_coding |
| OMIM | 617148 |
| Entrez | 159989 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 non_stop_decay
ENST00000298050, ENST00000525646, ENST00000527307, ENST00000529909, ENST00000530053, ENST00000530273, ENST00000530862, ENST00000531448, ENST00000531792, ENST00000532819, ENST00000534747, ENST00000618031
RefSeq mRNA: 1 — MANE Select: NM_181645
NM_181645
CCDS: CCDS44707
Canonical transcript exons
ENST00000298050 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001092140 | 93371038 | 93371280 |
| ENSE00001092142 | 93370073 | 93370186 |
| ENSE00001092145 | 93385398 | 93385543 |
| ENSE00001092146 | 93364160 | 93364294 |
| ENSE00001092148 | 93389020 | 93389125 |
| ENSE00001425947 | 93356948 | 93357043 |
| ENSE00001532302 | 93330742 | 93330772 |
| ENSE00002151028 | 93437543 | 93438470 |
| ENSE00003461820 | 93396239 | 93396325 |
| ENSE00003495111 | 93394459 | 93394656 |
| ENSE00003545292 | 93332216 | 93332288 |
| ENSE00003590657 | 93408231 | 93408427 |
| ENSE00003671542 | 93415000 | 93415114 |
| ENSE00003731127 | 93355371 | 93355542 |
Expression profiles
Bgee: expression breadth ubiquitous, 140 present calls, max score 92.09.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1388 / max 16.2391, expressed in 50 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 116223 | 0.1007 | 39 |
| 116222 | 0.0311 | 12 |
| 116221 | 0.0071 | 3 |
Top tissues by expression
218 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 92.09 | gold quality |
| left testis | UBERON:0004533 | 88.86 | gold quality |
| right testis | UBERON:0004534 | 88.39 | gold quality |
| testis | UBERON:0000473 | 86.23 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.51 | gold quality |
| right uterine tube | UBERON:0001302 | 81.21 | gold quality |
| oviduct epithelium | UBERON:0004804 | 78.90 | gold quality |
| islet of Langerhans | UBERON:0000006 | 74.51 | gold quality |
| bronchial epithelial cell | CL:0002328 | 71.67 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 71.49 | gold quality |
| bronchus | UBERON:0002185 | 70.26 | gold quality |
| fallopian tube | UBERON:0003889 | 66.58 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 65.72 | gold quality |
| adenohypophysis | UBERON:0002196 | 64.07 | gold quality |
| pituitary gland | UBERON:0000007 | 62.15 | gold quality |
| buccal mucosa cell | CL:0002336 | 61.37 | silver quality |
| lower lobe of lung | UBERON:0008949 | 61.36 | silver quality |
| sural nerve | UBERON:0015488 | 59.86 | silver quality |
| adrenal tissue | UBERON:0018303 | 59.54 | gold quality |
| pancreas | UBERON:0001264 | 58.95 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 58.89 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 58.59 | gold quality |
| ventricular zone | UBERON:0003053 | 58.24 | gold quality |
| spinal cord | UBERON:0002240 | 57.19 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 55.75 | gold quality |
| right adrenal gland | UBERON:0001233 | 55.59 | gold quality |
| calcaneal tendon | UBERON:0003701 | 55.39 | gold quality |
| hypothalamus | UBERON:0001898 | 54.58 | gold quality |
| adrenal gland | UBERON:0002369 | 53.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 12.41 |
| E-ANND-3 | yes | 5.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXN1
miRNA regulators (miRDB)
67 targeting DEUP1, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
Literature-anchored findings (GeneRIF, showing 5)
- suggest that CCDC67 is a putative tumor suppressor gene that is silenced in gastric cancers by promoter CpG methylation and that it may play an important role in cell signaling and migration related to tumorigenesis (PMID:22610074)
- Loss of CCDC67 is associated with papillary thyroid carcinoma. (PMID:26716505)
- Single nucleotide polymorphism in CCDC67 gene is associated with Acute Renal Graft Rejection. (PMID:27272414)
- MiR-96-5p promotes the proliferation, invasion and metastasis of papillary thyroid carcinoma through down-regulating CCDC67. (PMID:31081096)
- E2F4’s cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6. (PMID:34260288)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Deup1 | ENSMUSG00000039977 |
| rattus_norvegicus | Deup1 | ENSRNOG00000061247 |
Paralogs (2): CCDC18 (ENSG00000122483), CEP63 (ENSG00000182923)
Protein
Protein identifiers
Deuterosome assembly protein 1 — Q05D60 (reviewed: Q05D60)
Alternative names: Coiled-coil domain-containing protein 67
All UniProt accessions (10): Q05D60, A0A087WVI3, A0A088AWP1, A0A0A0MTD8, A0A5H1ZRS0, E9PIY2, E9PLL9, E9PLX9, E9PMP4, E9PPB2
UniProt curated annotations — full annotation on UniProt →
Function. Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis.
Subunit / interactions. Interacts with CEP152; the interaction is mutually exclusive with CEP63.
Subcellular location. Cytoplasm.
Miscellaneous. CEP63 and DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, DEUP1 mediates de novo centriole amplification in multiciliated cells.
Similarity. Belongs to the CEP63 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q05D60-1 | 1 | yes |
| Q05D60-2 | 2 |
RefSeq proteins (1): NP_857596* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR031470 | CEP63/Deup1_N | Domain |
| IPR057656 | CEP63/Deup1_CC | Domain |
Pfam: PF17045, PF25771
UniProt features (14 total): coiled-coil region 5, sequence variant 4, splice variant 2, chain 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q05D60-F1 | 78.06 | 0.54 |
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 (1): 547
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 69 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CENTRIOLE_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_CELL_PROJECTION_ORGANIZATION, SOX5_01, GOBP_CENTROSOME_DUPLICATION, GOCC_CENTRIOLE, GOBP_CELL_CYCLE_PROCESS, chr11q21, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_ES_HCP_WITH_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED
GO Biological Process (4): centriole replication (GO:0007099), cell projection organization (GO:0030030), de novo centriole assembly involved in multi-ciliated epithelial cell differentiation (GO:0098535), multi-ciliated epithelial cell differentiation (GO:1903251)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), centriole (GO:0005814), deuterosome (GO:0098536), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| intracellular membraneless organelle | 2 |
| cell cycle process | 1 |
| centrosome duplication | 1 |
| centriole assembly | 1 |
| cellular component organization | 1 |
| de novo centriole assembly | 1 |
| multi-ciliated epithelial cell differentiation | 1 |
| columnar/cuboidal epithelial cell differentiation | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| microtubule organizing center | 1 |
Protein interactions and networks
STRING
672 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DEUP1 | CCDC78 | A2IDD5 | 744 |
| DEUP1 | CCNO | P22674 | 661 |
| DEUP1 | SASS6 | Q6UVJ0 | 654 |
| DEUP1 | PLK4 | O00444 | 653 |
| DEUP1 | TMEM135 | Q86UB9 | 647 |
| DEUP1 | STIL | Q15468 | 644 |
| DEUP1 | MCIDAS | D6RGH6 | 638 |
| DEUP1 | CDC20B | Q86Y33 | 628 |
| DEUP1 | GMNC | A6NCL1 | 622 |
| DEUP1 | MAN2A1 | Q16706 | 571 |
| DEUP1 | FOXJ1 | Q92949 | 565 |
| DEUP1 | CEP152 | O94986 | 540 |
| DEUP1 | CEP70 | Q8NHQ1 | 496 |
| DEUP1 | CEP57 | Q86XR8 | 486 |
| DEUP1 | CEP78 | Q5JTW2 | 476 |
IntAct
225 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DEUP1 | TXLNA | psi-mi:“MI:0915”(physical association) | 0.720 |
| DEUP1 | DEUP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TXLNB | DEUP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DEUP1 | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TXLNA | DEUP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DEUP1 | TXLNB | psi-mi:“MI:0915”(physical association) | 0.720 |
| EXOC5 | DEUP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DEUP1 | DGCR6L | psi-mi:“MI:0915”(physical association) | 0.720 |
| DGCR6L | DEUP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (116): CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid), CCDC67 (Two-hybrid)
ESM2 similar proteins: A0JMQ7, A0JMY4, A2AUM9, A2BDR7, A2BGP7, A6NI79, A6PWD2, A6QNP9, B1AJZ9, D3YV10, G9G127, O35550, O35551, O75330, O94986, P0CB05, Q05D60, Q0VFN8, Q0VFX2, Q15276, Q17QT2, Q3UPP8, Q498G2, Q4KLY0, Q4PJT6, Q4R703, Q4V7B0, Q5JU67, Q5NVN6, Q5U3A8, Q5U3Z6, Q5U4W1, Q5ZL12, Q66KE8, Q6DFC2, Q6DIS8, Q6IMY1, Q6NRC9, Q6P402, Q7M6Y5
Diamond homologs: B9V5F5, F7DP49, P0CB05, Q05D60, Q5U3Z6, Q7M6Y5, Q95JK1, Q3UPP8, Q4KLY0, Q4R703, Q5HZK9, Q5NVN6, Q6PGZ0, Q96MT8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2576 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:93330771:AGGTA:A | donor_loss | 1.0000 |
| 11:93355362:A:AG | acceptor_gain | 1.0000 |
| 11:93355362:AATT:A | acceptor_gain | 1.0000 |
| 11:93355363:A:G | acceptor_gain | 1.0000 |
| 11:93356943:TGCA:T | acceptor_loss | 1.0000 |
| 11:93356945:CA:C | acceptor_loss | 1.0000 |
| 11:93356946:A:G | acceptor_loss | 1.0000 |
| 11:93356947:G:GC | acceptor_loss | 1.0000 |
| 11:93356947:GGTA:G | acceptor_gain | 1.0000 |
| 11:93357042:AAGTA:A | donor_loss | 1.0000 |
| 11:93357043:AG:A | donor_loss | 1.0000 |
| 11:93357044:G:GG | donor_gain | 1.0000 |
| 11:93357044:GT:G | donor_loss | 1.0000 |
| 11:93357045:T:A | donor_loss | 1.0000 |
| 11:93364154:TTACA:T | acceptor_loss | 1.0000 |
| 11:93364156:ACAG:A | acceptor_loss | 1.0000 |
| 11:93364157:CAGTT:C | acceptor_loss | 1.0000 |
| 11:93364158:A:AG | acceptor_gain | 1.0000 |
| 11:93364159:G:GG | acceptor_gain | 1.0000 |
| 11:93364159:G:T | acceptor_loss | 1.0000 |
| 11:93364159:GT:G | acceptor_gain | 1.0000 |
| 11:93364159:GTTTT:G | acceptor_gain | 1.0000 |
| 11:93389015:TGTAG:T | acceptor_loss | 1.0000 |
| 11:93389016:GTAGA:G | acceptor_loss | 1.0000 |
| 11:93389018:A:AC | acceptor_loss | 1.0000 |
| 11:93389018:A:AG | acceptor_gain | 1.0000 |
| 11:93389019:G:GG | acceptor_gain | 1.0000 |
| 11:93389019:GA:G | acceptor_gain | 1.0000 |
| 11:93389019:GACTT:G | acceptor_gain | 1.0000 |
| 11:93389123:AAGGT:A | donor_loss | 1.0000 |
AlphaMissense
4050 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:93355403:T:C | L21S | 0.999 |
| 11:93355447:T:A | W36R | 0.999 |
| 11:93355447:T:C | W36R | 0.999 |
| 11:93355449:G:C | W36C | 0.998 |
| 11:93355449:G:T | W36C | 0.998 |
| 11:93355394:T:C | L18P | 0.997 |
| 11:93371180:T:C | L230P | 0.996 |
| 11:93355394:T:A | L18H | 0.995 |
| 11:93355412:A:C | Q24P | 0.995 |
| 11:93355490:G:C | R50P | 0.995 |
| 11:93355415:T:G | I25S | 0.994 |
| 11:93355510:G:C | A57P | 0.994 |
| 11:93356958:T:C | L71P | 0.994 |
| 11:93355448:G:C | W36S | 0.993 |
| 11:93437655:T:C | L584P | 0.993 |
| 11:93355425:G:A | M28I | 0.992 |
| 11:93355425:G:C | M28I | 0.992 |
| 11:93355425:G:T | M28I | 0.992 |
| 11:93357024:T:C | L93P | 0.992 |
| 11:93357033:T:C | L96P | 0.991 |
| 11:93371243:T:C | L251P | 0.991 |
| 11:93371255:T:C | L255P | 0.991 |
| 11:93355415:T:A | I25N | 0.990 |
| 11:93364170:T:C | L103P | 0.990 |
| 11:93394535:T:C | L373P | 0.990 |
| 11:93437634:T:C | L577P | 0.989 |
| 11:93355478:G:C | R46P | 0.988 |
| 11:93355487:T:C | L49P | 0.988 |
| 11:93394547:T:C | L377P | 0.988 |
| 11:93371188:G:C | A233P | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000013205 (11:93434589 C>T), RS1000023917 (11:93378979 C>T), RS1000056719 (11:93347906 AT>A,ATT), RS1000057269 (11:93332885 A>G), RS1000073142 (11:93393855 G>A), RS1000095535 (11:93419567 A>G), RS1000165584 (11:93375142 G>C), RS1000215728 (11:93358159 A>C), RS1000233744 (11:93372220 G>A,T), RS1000263536 (11:93405217 T>C), RS1000290875 (11:93407955 G>T), RS1000294970 (11:93365337 A>G), RS1000374350 (11:93401300 A>C), RS1000384344 (11:93434979 G>A), RS1000391022 (11:93364911 A>C)
Disease associations
OMIM: gene MIM:617148 | disease phenotypes: MIM:173900
GenCC curated gene-disease
Mondo (1): polycystic kidney disease (MONDO:0020642)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001444_21 | Pulmonary function decline | 4.000000e-06 |
| GCST001762_792 | Obesity-related traits | 4.000000e-06 |
| GCST002934_1 | Zinc levels | 2.000000e-07 |
| GCST009202_6 | Rostral middle frontal gyrus volume | 8.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004713 | FEV/FVC ratio |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007690 | Polycystic Kidney Diseases | C12.050.351.968.419.403.875; C12.200.777.419.403.875; C12.950.419.403.875; C16.131.077.717; C16.320.184.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| arsenite | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Antirheumatic Agents | affects expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
25 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02140814 | PHASE2 | COMPLETED | Uncontrolled, Open Label, Pilot and Feasibility Study of Niacinamide in Polycystic Kidney Disease |
| NCT02558595 | PHASE2 | COMPLETED | Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2) |
| NCT02697617 | PHASE2 | COMPLETED | Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease |
| NCT02166489 | PHASE1 | COMPLETED | Mesenchymal Stem Cells Transplantation in Patients With Chronic Renal Failure Due to Polycystic Kidney Disease |
| NCT01009957 | PHASE2/PHASE3 | TERMINATED | Everolimus on CKD Progression in ADPKD Patients |
| NCT01680250 | PHASE2/PHASE3 | UNKNOWN | Sirolimus for Massive Polycystic Liver |
| NCT00286156 | PHASE1/PHASE2 | COMPLETED | Pilot Study of Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD) |
| NCT03423810 | EARLY_PHASE1 | COMPLETED | Assessing a Dose-Response Relationship of Hydralazine and Its Effects on DNA Methyltransferase 1 in Polycystic Kidney Disease Patients |
| NCT00792155 | Not specified | RECRUITING | Polycystic Kidney Disease Data Repository |
| NCT01873235 | Not specified | RECRUITING | PKD Clinical and Translational Core Study |
| NCT01931644 | Not specified | COMPLETED | At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions |
| NCT02142101 | Not specified | COMPLETED | Evaluation of Gut Bacteria in Patients With Polycystic Kidney Disease |
| NCT02739750 | Not specified | COMPLETED | Pioglitazone and Lumbar Bone Marrow Fat in Chronic Kidney Disease |
| NCT02936791 | Not specified | RECRUITING | Early PKD Observational Cohort Study |
| NCT03726463 | Not specified | UNKNOWN | Evaluation of Iliac and Renal Artery for Mechanism of Intracranial Aneurysm in ADPKD |
| NCT03889392 | Not specified | COMPLETED | Evaluation of Nephrectomy Specimen for Intracranial Aneurysm Development in ADPKD |
| NCT03948113 | Not specified | COMPLETED | Outcome of Autosomal Dominant Polycystic Kidney Disease Patients on Peritoneal Dialysis: a National Retrospective Study Based on Two French Registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network). |
| NCT04039061 | Not specified | RECRUITING | ADPKD Patient Registry |
| NCT05215964 | Not specified | UNKNOWN | The Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease |
| NCT06036992 | Not specified | ACTIVE_NOT_RECRUITING | Study and Management of Cystic Complications in Autosomal Dominant Polycystic Kidney Disease |
| NCT06325644 | Not specified | RECRUITING | Well-Formulated Ketogenic Diet Polycystic Kidney Disease |
| NCT06728228 | Not specified | RECRUITING | Amnioinfusion for Fetal Renal Failure |
| NCT06841224 | Not specified | ENROLLING_BY_INVITATION | The Factors Affecting IPP in Peritoneal Dialysis Patients with Polycystic Kidney Disease |
| NCT06867471 | Not specified | RECRUITING | Effects of Exogenous Ketosis on Proteinuria and Renal Function |
| NCT07310641 | Not specified | COMPLETED | Descriptive Analysis of Preimplantation Genetic Test (PGT)in Couples With Polycystic Kidney Disease (PKD). In the ADPKD Subgroup Evaluation of Outcomes and Complications Comparing Couples in Which the Father is Affected With Couples in Which the Mother is Affected |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): polycystic kidney disease