DVL1
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Summary
DVL1 (dishevelled segment polarity protein 1, HGNC:3084) is a protein-coding gene on chromosome 1p36.33, encoding Segment polarity protein dishevelled homolog DVL-1 (O14640). Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors.
DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development.
Source: NCBI Gene 1855 — RefSeq curated summary.
At a glance
- Gene–disease (curated): autosomal dominant Robinow syndrome 2 (Definitive, GenCC) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 847 total — 15 pathogenic, 7 likely-pathogenic
- Phenotypes (HPO): 146
- Druggable target: yes
- MANE Select transcript:
NM_001330311
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3084 |
| Approved symbol | DVL1 |
| Name | dishevelled segment polarity protein 1 |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000107404 |
| Ensembl biotype | protein_coding |
| OMIM | 601365 |
| Entrez | 1855 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron
ENST00000378888, ENST00000378891, ENST00000472445, ENST00000631679, ENST00000632445, ENST00000633096, ENST00000634054, ENST00000874577, ENST00000911402, ENST00000954312, ENST00000954313, ENST00000954314, ENST00000954315
RefSeq mRNA: 2 — MANE Select: NM_001330311
NM_001330311, NM_004421
CCDS: CCDS22, CCDS81252
Canonical transcript exons
ENST00000378888 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000955181 | 1342053 | 1342156 |
| ENSE00000955183 | 1340410 | 1340503 |
| ENSE00000955184 | 1340247 | 1340316 |
| ENSE00001224879 | 1339582 | 1339649 |
| ENSE00001316141 | 1341667 | 1341805 |
| ENSE00001388177 | 1339287 | 1339439 |
| ENSE00001604958 | 1338522 | 1338653 |
| ENSE00001637986 | 1337977 | 1338183 |
| ENSE00001713781 | 1338269 | 1338436 |
| ENSE00001762921 | 1340038 | 1340177 |
| ENSE00001784308 | 1339736 | 1339812 |
| ENSE00001857962 | 1348896 | 1349418 |
| ENSE00003642103 | 1342363 | 1342484 |
| ENSE00003672937 | 1342689 | 1342758 |
| ENSE00003847927 | 1335278 | 1336515 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 98.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9803 / max 73.7123, expressed in 1786 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9755 | 11.4634 | 1784 |
| 9756 | 0.5169 | 289 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 98.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.75 | gold quality |
| muscle of leg | UBERON:0001383 | 97.25 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.22 | gold quality |
| apex of heart | UBERON:0002098 | 97.14 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.89 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.80 | gold quality |
| body of tongue | UBERON:0011876 | 96.54 | gold quality |
| muscle organ | UBERON:0001630 | 96.42 | gold quality |
| diaphragm | UBERON:0001103 | 96.32 | gold quality |
| amygdala | UBERON:0001876 | 96.28 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.11 | gold quality |
| right uterine tube | UBERON:0001302 | 95.98 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.65 | gold quality |
| parotid gland | UBERON:0001831 | 95.58 | gold quality |
| body of stomach | UBERON:0001161 | 95.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.37 | gold quality |
| left testis | UBERON:0004533 | 95.37 | gold quality |
| right testis | UBERON:0004534 | 95.36 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.26 | gold quality |
| putamen | UBERON:0001874 | 95.22 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.15 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.11 | gold quality |
| fundus of stomach | UBERON:0001160 | 95.07 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.96 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.96 | gold quality |
| tibial nerve | UBERON:0001323 | 94.87 | gold quality |
| body of pancreas | UBERON:0001150 | 94.80 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.77 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.20 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFKB
miRNA regulators (miRDB)
34 targeting DVL1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
Literature-anchored findings (GeneRIF, showing 40)
- The DVL1 gene spans a region of approximately 13.8 kb with 15 exons and six rare sequence variations. None of these had any association with late onset AD. (PMID:11803455)
- CKI epsilon-dependent phosphorylation of Dvl enhances the formation of a complex of Dvl-1 with Frat-1 and this complex leads to the activation of Wnt-3a-induced accumulation of beta-catenin (PMID:12556519)
- Amplification and increased expression of the DVL-1 gene is associated with breast carcinogenesis (PMID:12824876)
- amplification and increased expression of the DVL-1 gene may play some role in the development of a portion of human cervical squamous cell cancer through derangement of the Wnt signaling pathway (PMID:12883684)
- interaction among misfolded SOD1, NEDL1, translocon-associated protein-delta, and Dishevelled-1 forms a ubiquitinated protein complex that is included in potentially cytotoxic protein aggregates (PMID:14684739)
- Ccd1 drastically inhibited JNK activation both by Axin and by Dvl. (PMID:15262978)
- DVL1 was overexpressed in prostate cancer and its overexpression might be related to prostate cancer progression through the Wnt/beta-catenin pathway. (PMID:16457155)
- BMP-2 antagonizes Wnt-3a signaling in osteoblast progenitors by promoting an interaction between Smad1 and Dvl-1 that restricts beta-catenin activation (PMID:16621789)
- The expression of Dishevelleds in mammalian cells provide an estimate of the relative cellular abundance of each Dvl. (PMID:18093802)
- a carboxyl-terminal binding partner, Dvl, has a role in activation of Daam1 (PMID:18162551)
- Our results reveal a mechanism by which nuclear Dvl cooperates with c-Jun to regulate gene transcription stimulated by the canonical Wnt signaling pathway. (PMID:18347071)
- the C6 motif seems to reduce the interaction of Axin with Dvl-1. (PMID:18632848)
- Expression of Dvl-1, Dvl-2 and Dvl-3, is common in non-small cell lung cancer (PMID:18692936)
- These results suggest that membrane accumulation of Par1b induced by Dvl is regulated by its phosphorylation status, which is important for Par1b to regulate the microtubule dynamics. (PMID:18760999)
- Dvl directly interacted with and activated PI4KII alpha by increasing its V(max) for ATP and PtdIns. In addition, Dvl regulated PI4KII alpha and PIP5KI via different domains. (PMID:19561074)
- Mutations in the human naked cuticle homolog NKD1 found in colorectal cancer alter Wnt/Dvl/beta-catenin signaling (PMID:19956716)
- NKD2 antagonizes Wnt signaling: myristoylated NKD2 interacts with Dvl-1 at the plasma membrane, and this interaction leads to their mutual ubiquitin-mediated proteasomal degradation. (PMID:20177058)
- Dishevelled signals through LRP5/6 in human cells and Drosophila embryos. (PMID:20388731)
- the Hippo pathway restricts Wnt/beta-Catenin signaling by promoting an interaction between TAZ and DVL in the cytoplasm (PMID:20412773)
- Study demonstrate that the DIX domains of Dvl and Axin are expressed noticeably in a multi-cistronic system but not in a mono-cistronic system. (PMID:20846493)
- TMEM88 associates with Dvl proteins and regulates Wnt signaling in a context-dependent manner (PMID:21044957)
- 14-3-3beta interacts with human Dapper1, attenuating the ability of hDpr1 to promote Dishevelled (Dvl) degradation, thus enhancing Wnt signaling (PMID:21262972)
- Data reveal a novel Rac1-dependent signalling pathway that, through Nedd4-mediated ubiquitylation of Dvl1, stimulates the maturation of epithelial cell-cell contacts. (PMID:22467858)
- findings did not provide evidence for the implication of DVL1 in the pathogenesis of human NTDs. (PMID:23836490)
- Study showed an association of DVL-1 and DVL-3 with Hirschsprung’s disease. (PMID:24040443)
- DVL1 was localized in the cytoplasm of CRC cells. (PMID:24129181)
- Authors propose a model for Rac1 activation where SIRT1/2 positively modulates the DVL/TIAM1/Rac1 axis and promotes sustained pathway activation. (PMID:24362520)
- DVL is a master regulator of FZD6/G-protein signaling (PMID:24500924)
- Dvl overexpression may contribute to the malignant proliferation and invasion of human glioma. (PMID:25043531)
- Results show that coexpression of IQGAP1 and Dvl in the cytoplasm and nucleus was correlated with the lymph nodal metastase and poor prognosis of non-small cell lung cancer. (PMID:25436461)
- silencing DVL1 sensitized A2780/Taxol cells to paclitaxel, by down-regulating AKT/GSK-3beta/beta-catenin signalling, providing a novel strategy for chemosensitization of ovarian cancer to paclitaxel-induced cytotoxicity. (PMID:25643607)
- Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome, with the osteosclerosis possibly the result of an interaction between the wild-type and mutant alleles, leading to elevated canonical Wnt signaling. (PMID:25817014)
- DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. (PMID:25817016)
- Data indicate Dishevelled (DVL) as a dual function adaptor to recruit negative regulators ZNRF3/RNF43 to Wnt receptors to ensure proper control of pathway activity. (PMID:25891077)
- TMEM88 stimulated triple negative breast cancer cell invasion by interacting with DVLl. (PMID:26325443)
- Specific -1 frameshift variants in the penultimate exon of DVL1 cause autosomal-dominant Robinow syndrome. (PMID:26924530)
- Data show that dishevelled proteins DVL1, 2 and 3 were exclusively expressed in chronic lymphatic leukaemia (CLL) cells as compared to normal peripheral blood mononuclear cells (PBMCs). (PMID:27086035)
- These results identify USP4 as a novel regulator of Dvl in Wnt/beta-catenin signal and show its involvement in Wnt3a-induced osteoblast differentiation (PMID:27128386)
- Data show that receptor for activated C kinase 1 (RACK1) interacts with Dishevelled (Dvl) proteins and promotes their lysosomal degradation, and this effect is enhanced by autophagy induction. (PMID:27129200)
- Lack of DVL prevents NEK2-controlled dissolution of loose centrosomal linker and subsequent centrosomal separation. Increased DVL levels, in contrast, sequester centrosomal NEK2 and mimic monopolar spindle defects induced by a dominant negative version of this kinase. (PMID:27486244)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dvl1a | ENSDARG00000010515 |
| danio_rerio | dvl1b | ENSDARG00000055552 |
| danio_rerio | si:ch73-236e11.2 | ENSDARG00000095919 |
| mus_musculus | Dvl1 | ENSMUSG00000029071 |
| rattus_norvegicus | Dvl1 | ENSRNOG00000019423 |
| drosophila_melanogaster | dsh | FBGN0000499 |
| caenorhabditis_elegans | WBGENE00001101 | |
| caenorhabditis_elegans | WBGENE00001102 | |
| caenorhabditis_elegans | WBGENE00003241 |
Paralogs (3): DVL2 (ENSG00000004975), DIXDC1 (ENSG00000150764), DVL3 (ENSG00000161202)
Protein
Protein identifiers
Segment polarity protein dishevelled homolog DVL-1 — O14640 (reviewed: O14640)
Alternative names: DSH homolog 1
All UniProt accessions (3): O14640, A0A0J9YWZ5, A0A0J9YYK1
UniProt curated annotations — full annotation on UniProt →
Function. Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).
Subunit / interactions. Interacts with CXXC4. Interacts (via PDZ domain) with NXN. Interacts with BRD7 and INVS. Interacts (via PDZ domain) with VANGL1 and VANGL2 (via C-terminus). Interacts with ARRB1; the interaction is enhanced by phosphorylation of DVL1. Interacts with CYLD. Interacts (via PDZ domain) with RYK. Self-associates (via DIX domain) and forms higher homooligomers. Interacts (via PDZ domain) with DACT1 and FZD7, where DACT1 and FZD7 compete for the same binding site. Interacts (via DEP domain) with MUSK; the interaction is direct and mediates the formation a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering. Interacts (via PDZ domain) with TMEM88. Interacts with DCDC2. Interacts with FOXK2. Interacts with PKD1 (via extracellular domain). Interacts (via PDZ domain) with CCDC88C/DAPLE; competes with CCDC88C for binding to frizzled receptor FZD7 and dissociates from CCDC88C following initiation of non-canonical Wnt signaling when CCDC88C displaces DVL1 from ligand-activated FZD7.
Subcellular location. Cell membrane. Cytoplasm. Cytosol. Cytoplasmic vesicle.
Post-translational modifications. Ubiquitinated; undergoes both ‘Lys-48’-linked ubiquitination, leading to its subsequent degradation by the ubiquitin-proteasome pathway, and ‘Lys-63’-linked ubiquitination. The interaction with INVS is required for ubiquitination. Deubiquitinated by CYLD, which acts on ‘Lys-63’-linked ubiquitin chains.
Disease relevance. Robinow syndrome, autosomal dominant 2 (DRS2) [MIM:616331] A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The DIX domain promotes homooligomerization. The DEP domain mediates interaction with the cell membrane.
Similarity. Belongs to the DSH family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14640-1 | 1 | yes |
| O14640-2 | 2 |
RefSeq proteins (2): NP_001317240, NP_004412 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000591 | DEP_dom | Domain |
| IPR001158 | DIX | Domain |
| IPR001478 | PDZ | Domain |
| IPR003351 | Dishevelled_protein_dom | Domain |
| IPR008339 | Dishevelled_fam | Family |
| IPR015506 | Dsh/Dvl-rel | Family |
| IPR024580 | Dishevelled_C-dom | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR038207 | DIX_dom_sf | Homologous_superfamily |
Pfam: PF00595, PF00610, PF00778, PF02377, PF12316
UniProt features (25 total): compositionally biased region 7, strand 6, domain 3, sequence conflict 2, helix 2, region of interest 2, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6LCB | X-RAY DIFFRACTION | 1.4 |
| 6TTK | X-RAY DIFFRACTION | 2.38 |
| 6LCA | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14640-F1 | 60.70 | 0.19 |
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): 194
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-201681 | TCF dependent signaling in response to WNT |
| R-HSA-201688 | WNT mediated activation of DVL |
| R-HSA-4086400 | PCP/CE pathway |
| R-HSA-4641258 | Degradation of DVL |
| R-HSA-4641262 | Disassembly of the destruction complex and recruitment of AXIN to the membrane |
| R-HSA-5368598 | Negative regulation of TCF-dependent signaling by DVL-interacting proteins |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-9673324 | WNT5:FZD7-mediated leishmania damping |
MSigDB gene sets: 0 (showing top):
GO Biological Process (41): heart looping (GO:0001947), outflow tract morphogenesis (GO:0003151), regulation of DNA-templated transcription (GO:0006355), neurotransmitter secretion (GO:0007269), axon guidance (GO:0007411), neuromuscular junction development (GO:0007528), positive regulation of neuron projection development (GO:0010976), synaptic vesicle exocytosis (GO:0016079), neural tube development (GO:0021915), convergent extension involved in neural plate elongation (GO:0022007), cytoplasmic microtubule organization (GO:0031122), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), regulation of protein localization (GO:0032880), protein localization to nucleus (GO:0034504), social behavior (GO:0035176), protein localization to microtubule (GO:0035372), intracellular signal transduction (GO:0035556), non-canonical Wnt signaling pathway (GO:0035567), receptor clustering (GO:0043113), positive regulation of transcription by RNA polymerase II (GO:0045944), collateral sprouting (GO:0048668), axon extension (GO:0048675), dendrite morphogenesis (GO:0048813), synapse organization (GO:0050808), protein stabilization (GO:0050821), canonical Wnt signaling pathway (GO:0060070), Wnt signaling pathway, planar cell polarity pathway (GO:0060071), prepulse inhibition (GO:0060134), dendritic spine morphogenesis (GO:0060997), skeletal muscle acetylcholine-gated channel clustering (GO:0071340), cochlea morphogenesis (GO:0090103), presynapse assembly (GO:0099054), regulation of postsynapse organization (GO:0099175), positive regulation of neuron projection arborization (GO:0150012), positive regulation of protein localization to presynapse (GO:1905386), regulation of synaptic vesicle exocytosis (GO:2000300), positive regulation of excitatory postsynaptic potential (GO:2000463), axonogenesis (GO:0007409), Wnt signaling pathway (GO:0016055), convergent extension involved in organogenesis (GO:0060029)
GO Molecular Function (7): frizzled binding (GO:0005109), beta-catenin binding (GO:0008013), enzyme binding (GO:0019899), protein kinase binding (GO:0019901), small GTPase binding (GO:0031267), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (22): cytosol (GO:0005829), microtubule (GO:0005874), postsynaptic density (GO:0014069), lateral plasma membrane (GO:0016328), clathrin-coated vesicle (GO:0030136), growth cone (GO:0030426), cytoplasmic vesicle (GO:0031410), neuron projection (GO:0043005), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), synapse (GO:0045202), Schaffer collateral - CA1 synapse (GO:0098685), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), neuronal dense core vesicle (GO:0098992), Wnt signalosome (GO:1990909), cytoplasm (GO:0005737), plasma membrane (GO:0005886), microtubule cytoskeleton (GO:0015630), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| TCF dependent signaling in response to WNT | 4 |
| Signaling by WNT | 1 |
| Beta-catenin independent WNT signaling | 1 |
| RHO GTPase Effectors | 1 |
| Killing mechanisms | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| protein binding | 3 |
| synapse | 3 |
| establishment of localization in cell | 2 |
| presynapse | 2 |
| signal release from synapse | 2 |
| intracellular anatomical structure | 2 |
| plasma membrane | 2 |
| cytoplasm | 2 |
| embryonic heart tube morphogenesis | 1 |
| determination of heart left/right asymmetry | 1 |
| heart morphogenesis | 1 |
| anatomical structure morphogenesis | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| neurotransmitter transport | 1 |
| chemical synaptic transmission | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| synapse organization | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| positive regulation of cell projection organization | 1 |
| neurotransmitter secretion | 1 |
| regulated exocytosis | 1 |
| vesicle-mediated transport in synapse | 1 |
| synaptic vesicle cycle | 1 |
| nervous system development | 1 |
| tube development | 1 |
| chordate embryonic development | 1 |
| epithelium development | 1 |
| neural plate elongation | 1 |
| convergent extension involved in gastrulation | 1 |
| convergent extension involved in organogenesis | 1 |
| microtubule cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| positive regulation of proteasomal protein catabolic process | 1 |
Protein interactions and networks
STRING
2659 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DVL1 | AXIN1 | O15169 | 999 |
| DVL1 | DAAM1 | Q9Y4D1 | 998 |
| DVL1 | LRP5 | O75197 | 997 |
| DVL1 | GSK3B | P49841 | 995 |
| DVL1 | LRP6 | O75581 | 994 |
| DVL1 | INVS | Q9Y283 | 990 |
| DVL1 | CCDC88C | Q9P219 | 983 |
| DVL1 | VANGL2 | Q9ULK5 | 976 |
| DVL1 | ANKRD6 | Q9Y2G4 | 973 |
| DVL1 | CTNNB1 | P35222 | 973 |
| DVL1 | FZD7 | O75084 | 969 |
| DVL1 | VANGL1 | Q8TAA9 | 961 |
| DVL1 | CXXC5 | Q7LFL8 | 960 |
| DVL1 | FRAT1 | Q92837 | 954 |
| DVL1 | DACT1 | Q9NYF0 | 953 |
IntAct
120 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DVL1 | Axin1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| Axin1 | DVL1 | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| DVL1 | Axin1 | psi-mi:“MI:0407”(direct interaction) | 0.800 |
| Axin1 | DVL1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| DVL1 | Axin1 | psi-mi:“MI:0403”(colocalization) | 0.800 |
| CSNK1E | DVL1 | psi-mi:“MI:0915”(physical association) | 0.640 |
| DVL1 | CSNK1E | psi-mi:“MI:0407”(direct interaction) | 0.640 |
| CSNK1E | DVL1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.640 |
| DVL3 | DVL1 | psi-mi:“MI:0915”(physical association) | 0.630 |
| DVL1 | DVL3 | psi-mi:“MI:0915”(physical association) | 0.630 |
| DVL3 | DVL1 | psi-mi:“MI:0407”(direct interaction) | 0.630 |
| DVL1 | DVL2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| DVL1 | DVL2 | psi-mi:“MI:0914”(association) | 0.620 |
| DVL1 | APC | psi-mi:“MI:0915”(physical association) | 0.620 |
| APC | DVL1 | psi-mi:“MI:0914”(association) | 0.620 |
| Cxxc4 | DVL1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| Cxxc4 | DVL1 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| DVL1 | Cxxc4 | psi-mi:“MI:0403”(colocalization) | 0.610 |
| PLK1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.560 |
| SCYL2 | DVL1 | psi-mi:“MI:0915”(physical association) | 0.540 |
BioGRID (170): NCK2 (Two-hybrid), TRIM69 (Two-hybrid), WWTR1 (Affinity Capture-Western), FLNC (Affinity Capture-MS), DVL2 (Affinity Capture-MS), DVL1 (Affinity Capture-MS), DVL1 (Affinity Capture-MS), DVL1 (Proximity Label-MS), DVL1 (Proximity Label-MS), DVL1 (Proximity Label-MS), DVL1 (Proximity Label-MS), DVL1 (Proximity Label-MS), DVL1 (Proximity Label-MS), DVL1 (Proximity Label-MS), DVL1 (Proximity Label-MS)
ESM2 similar proteins: A0A0G2K2P5, A0JNJ1, B1WAP7, G9CGD6, O14640, O75122, O88382, O95049, O97758, P34908, P39447, P51141, P54792, P70175, Q05AS8, Q07157, Q16825, Q5F488, Q5IS48, Q5SGD7, Q5TCQ9, Q5XI81, Q61062, Q62136, Q62728, Q62936, Q6DKE2, Q6P9H4, Q6ZM86, Q812E4, Q86UL8, Q8BMA3, Q8IVH8, Q8JHI3, Q8TDW5, Q920B0, Q924I2, Q925T6, Q92997, Q95168
Diamond homologs: A0A8C0TYJ0, B1WAP7, G5ECY0, O14640, O14641, O15018, O15169, O35625, O35889, O42400, O54824, O55164, O70239, O70240, O75970, O88566, P31007, P31016, P51140, P51141, P51142, P54792, P55196, P57094, P57105, P70175, P78352, Q05AS8, Q12923, Q12959, Q14005, Q155Q3, Q15700, Q22227, Q28C55, Q2VUH7, Q3T0C9, Q5IS48, Q5PYH5, Q5PYH6
SIGNOR signaling
41 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RYK | up-regulates | DVL1 | binding |
| DVL1 | “up-regulates activity” | CTNNB1 | binding |
| FZD3 | “up-regulates activity” | DVL1 | binding |
| INVS | down-regulates | DVL1 | ubiquitination |
| SMAD1 | up-regulates | DVL1 | binding |
| DVL1 | “up-regulates activity” | LRP6 | binding |
| DVL1 | “down-regulates activity” | APC | binding |
| DVL1 | “down-regulates activity” | GSK3B | binding |
| WNT5A | “up-regulates activity” | DVL1 | |
| DVL1 | up-regulates | JUN | binding |
| WNT3A | “up-regulates activity” | DVL1 | |
| DVL1 | “up-regulates activity” | DAAM1 | binding |
| DVL1 | “up-regulates activity” | RAC1 | binding |
| ANAPC2 | down-regulates | DVL1 | binding |
| WWTR1 | down-regulates | DVL1 | binding |
| FZD6 | “up-regulates activity” | DVL1 | binding |
| DVL1 | “up-regulates activity” | RAC1 | |
| DVL1 | up-regulates | RND1 | |
| SDC4 | up-regulates | DVL1 | binding |
| YAP1 | down-regulates | DVL1 | binding |
| CSNK1E | “up-regulates activity” | DVL1 | phosphorylation |
| DVL1 | “down-regulates activity” | GSK3B/Axin/APC | binding |
| Frizzled | “up-regulates activity” | DVL1 | binding |
| FZD1 | “up-regulates activity” | DVL1 | binding |
| FZD4 | “up-regulates activity” | DVL1 | binding |
| FZD2 | “up-regulates activity” | DVL1 | binding |
| FZD5 | “up-regulates activity” | DVL1 | binding |
| DVL1 | “up-regulates activity” | RHOA | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 88 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 |
|---|---|---|---|
| PCP/CE pathway | 5 | 27.8× | 8e-05 |
| Loss of Nlp from mitotic centrosomes | 6 | 17.6× | 8e-05 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 6 | 17.6× | 8e-05 |
| AURKA Activation by TPX2 | 6 | 16.9× | 9e-05 |
| Anchoring of the basal body to the plasma membrane | 8 | 16.8× | 6e-06 |
| Recruitment of mitotic centrosome proteins and complexes | 6 | 15.1× | 2e-04 |
| Regulation of PLK1 Activity at G2/M Transition | 6 | 14.1× | 2e-04 |
| Recruitment of NuMA to mitotic centrosomes | 6 | 12.9× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| centriole replication | 5 | 47.6× | 3e-05 |
| Wnt signaling pathway, planar cell polarity pathway | 5 | 29.6× | 2e-04 |
| cilium assembly | 10 | 9.6× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
847 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 15 |
| Likely pathogenic | 7 |
| Uncertain significance | 333 |
| Likely benign | 326 |
| Benign | 86 |
Top pathogenic / likely-pathogenic (22)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1335929 | NM_001330311.2(DVL1):c.1131C>A (p.Tyr377Ter) | Pathogenic |
| 208043 | NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) | Pathogenic |
| 208044 | NM_001330311.2(DVL1):c.1580_1592del (p.His527fs) | Pathogenic |
| 208045 | NM_001330311.2(DVL1):c.1594del (p.Trp532fs) | Pathogenic |
| 208046 | NM_001330311.2(DVL1):c.1583del (p.Pro528fs) | Pathogenic |
| 208047 | NM_001330311.2(DVL1):c.1690del (p.Ser564fs) | Pathogenic |
| 208048 | NM_001330311.2(DVL1):c.1604del (p.Gly535fs) | Pathogenic |
| 208049 | NM_001330311.2(DVL1):c.1637del (p.Pro546fs) | Pathogenic |
| 208050 | NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs) | Pathogenic |
| 219223 | NM_001330311.2(DVL1):c.1598del (p.Pro533fs) | Pathogenic |
| 3764194 | NM_001330311.2(DVL1):c.1695del (p.Ser567fs) | Pathogenic |
| 520999 | NM_001330311.2(DVL1):c.1579del (p.His527fs) | Pathogenic |
| 807594 | NM_001330311.2(DVL1):c.1547del (p.Thr516fs) | Pathogenic |
| 981467 | NM_001330311.2(DVL1):c.1667del (p.Pro556fs) | Pathogenic |
| 984981 | NM_001330311.2(DVL1):c.1631del (p.Gly544fs) | Pathogenic |
| 1709442 | NM_001330311.2(DVL1):c.363-1G>C | Likely pathogenic |
| 373812 | NM_001330311.2(DVL1):c.1324_1331dup (p.Val445fs) | Likely pathogenic |
| 488045 | NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) | Likely pathogenic |
| 488046 | NM_001330311.2(DVL1):c.1698del (p.Ser567fs) | Likely pathogenic |
| 524041 | NM_001330311.2(DVL1):c.1694_1706del (p.Thr565fs) | Likely pathogenic |
| 931630 | NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs) | Likely pathogenic |
| 981468 | NM_001330311.2(DVL1):c.1715-1G>A | Likely pathogenic |
SpliceAI
2137 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1337065:C:CT | acceptor_gain | 1.0000 |
| 1:1338267:A:AC | donor_gain | 1.0000 |
| 1:1338268:C:CC | donor_gain | 1.0000 |
| 1:1338268:CTG:C | donor_gain | 1.0000 |
| 1:1338514:CCACT:C | donor_loss | 1.0000 |
| 1:1338515:CACTC:C | donor_loss | 1.0000 |
| 1:1338516:ACTCA:A | donor_loss | 1.0000 |
| 1:1338517:CT:C | donor_loss | 1.0000 |
| 1:1338518:TCA:T | donor_loss | 1.0000 |
| 1:1338519:CA:C | donor_loss | 1.0000 |
| 1:1338520:A:AC | donor_gain | 1.0000 |
| 1:1338521:C:CC | donor_gain | 1.0000 |
| 1:1338521:C:CT | donor_loss | 1.0000 |
| 1:1338649:CAGCT:C | acceptor_gain | 1.0000 |
| 1:1338650:AGCT:A | acceptor_gain | 1.0000 |
| 1:1338651:GCTC:G | acceptor_loss | 1.0000 |
| 1:1338652:CT:C | acceptor_gain | 1.0000 |
| 1:1338654:C:CC | acceptor_gain | 1.0000 |
| 1:1338654:CTG:C | acceptor_loss | 1.0000 |
| 1:1338657:C:CT | acceptor_gain | 1.0000 |
| 1:1338658:A:T | acceptor_gain | 1.0000 |
| 1:1338662:C:CT | acceptor_gain | 1.0000 |
| 1:1339285:A:AC | donor_gain | 1.0000 |
| 1:1339286:C:CC | donor_gain | 1.0000 |
| 1:1339452:C:CT | acceptor_gain | 1.0000 |
| 1:1339494:CAGGG:C | acceptor_gain | 1.0000 |
| 1:1339734:AC:A | donor_gain | 1.0000 |
| 1:1339735:CC:C | donor_gain | 1.0000 |
| 1:1339810:CAC:C | acceptor_gain | 1.0000 |
| 1:1339813:CT:C | acceptor_loss | 1.0000 |
AlphaMissense
4555 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1338297:G:C | C493W | 1.000 |
| 1:1338309:G:C | F489L | 1.000 |
| 1:1338309:G:T | F489L | 1.000 |
| 1:1338310:A:G | F489S | 1.000 |
| 1:1338311:A:G | F489L | 1.000 |
| 1:1338436:C:T | G447E | 1.000 |
| 1:1338522:C:A | G447W | 1.000 |
| 1:1338522:C:G | G447R | 1.000 |
| 1:1338522:C:T | G447R | 1.000 |
| 1:1338530:G:T | A444D | 1.000 |
| 1:1338551:A:G | L437P | 1.000 |
| 1:1338551:A:T | L437H | 1.000 |
| 1:1338553:C:A | W436C | 1.000 |
| 1:1338553:C:G | W436C | 1.000 |
| 1:1338555:A:G | W436R | 1.000 |
| 1:1338555:A:T | W436R | 1.000 |
| 1:1338560:C:G | R434P | 1.000 |
| 1:1339629:G:T | A336D | 1.000 |
| 1:1339632:A:T | V335E | 1.000 |
| 1:1339638:A:G | L333P | 1.000 |
| 1:1339638:A:T | L333H | 1.000 |
| 1:1339760:A:G | L321P | 1.000 |
| 1:1339760:A:T | L321Q | 1.000 |
| 1:1339772:G:T | A317D | 1.000 |
| 1:1339796:A:G | F309S | 1.000 |
| 1:1340039:T:G | Q303P | 1.000 |
| 1:1340042:A:G | L302P | 1.000 |
| 1:1340045:A:C | L301W | 1.000 |
| 1:1340045:A:G | L301S | 1.000 |
| 1:1340051:T:A | D299V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000219681 (1:1346469 G>A), RS1000310620 (1:1338943 A>C), RS1000324436 (1:1342331 G>A), RS1000892093 (1:1336952 G>C), RS1001146154 (1:1349371 C>T), RS1001267916 (1:1336813 G>A,C), RS1001375231 (1:1339185 G>A), RS1001515279 (1:1349709 G>C), RS1001707902 (1:1335278 T>G), RS1001724002 (1:1346855 C>T), RS1001856223 (1:1337407 A>G,T), RS1001982494 (1:1346082 C>T), RS1002457796 (1:1345893 C>A,T), RS1002468853 (1:1343341 G>A), RS1002563932 (1:1343553 T>C)
Disease associations
OMIM: gene MIM:601365 | disease phenotypes: MIM:616331, MIM:180700, MIM:618300
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| autosomal dominant Robinow syndrome 2 | Definitive | Autosomal dominant |
| autosomal dominant Robinow syndrome | Supportive | Autosomal dominant |
Mondo (5): autosomal dominant Robinow syndrome 2 (MONDO:0014591), autosomal dominant Robinow syndrome 1 (MONDO:0024455), intellectual disability (MONDO:0001071), ciliary dyskinesia, primary, 40 (MONDO:0032664), autosomal dominant Robinow syndrome (MONDO:0008389)
Orphanet (3): Autosomal dominant Robinow syndrome (Orphanet:3107), Robinow syndrome (Orphanet:97360), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
146 total (30 of 146 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000036 | Abnormal penis morphology |
| HP:0000039 | Epispadias |
| HP:0000047 | Hypospadias |
| HP:0000054 | Micropenis |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000060 | Clitoral hypoplasia |
| HP:0000064 | Hypoplastic labia minora |
| HP:0000075 | Renal duplication |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000158 | Macroglossia |
| HP:0000164 | Abnormality of the dentition |
| HP:0000168 | Abnormality of the gingiva |
| HP:0000175 | Cleft palate |
| HP:0000185 | Cleft soft palate |
| HP:0000189 | Narrow palate |
| HP:0000200 | Short lingual frenulum |
| HP:0000202 | Orofacial cleft |
| HP:0000207 | Triangular mouth |
| HP:0000212 | Gingival overgrowth |
| HP:0000215 | Thick upper lip vermilion |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000256 | Macrocephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000272 | Malar flattening |
| HP:0000278 | Retrognathia |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_103 | Inflammatory bowel disease | 2.000000e-07 |
| GCST004133_40 | Ulcerative colitis | 3.000000e-06 |
| GCST009957_1 | Nicotine dependence | 4.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6027 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 10 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.73 | Kd | 186 | nM | CHEMBL3814692 |
PubChem BioAssay actives
1 with measured affinity, of 63 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-[2-bromo-6-ethoxy-4-[(Z)-(3-oxo-1-benzothiophen-2-ylidene)methyl]phenoxy]acetic acid | 1305262: Binding affinity to His-tagged Dvl-1 PDZ domain (247 to 337 residues) (unknown origin) expressed in Escherichia coli BL21 (DE3) by fluorescence spectroscopy | kd | 0.1860 | uM |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects cotreatment, increases methylation | 2 |
| Estradiol | affects expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| trichostatin A | affects cotreatment, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| tamibarotene | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| PKF115-584 | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Decitabine | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Cannabinoids | affects methylation, increases abundance | 1 |
| Carmustine | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Curcumin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estrogens | affects cotreatment, increases expression | 1 |
| Malathion | increases expression | 1 |
| Niclosamide | increases expression | 1 |
ChEMBL screening assays
11 unique, capped per target: 10 binding, 1 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1227548 | Binding | Inhibition of Dvl1 overexpressed in human HEK293S assessed as inhibition of beta-casein/TCF reporter signaling at 20 uM after 18 hrs by TOPglow reporter assay | Inhibition of Wnt signaling by Dishevelled PDZ peptides. — Nat Chem Biol |
| CHEMBL931111 | Functional | Antagonist activity at human Dvl1 assessed as inhibition of interaction between Dvl1 PDZ domain and Fz7 PDZ domain by alphaScreen assay | Indole-2-amide based biochemical antagonist of Dishevelled PDZ domain interaction down-regulates Dishevelled-driven Tcf transcriptional activity. — Bioorg Med Chem Lett |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0C7 | Ubigene HeLa DVL1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
197 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
| NCT02746614 | Not specified | COMPLETED | Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability |
| NCT02836405 | Not specified | COMPLETED | TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders |
Related Atlas pages
- Associated diseases: autosomal dominant Robinow syndrome 2, autosomal dominant Robinow syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant Robinow syndrome, autosomal dominant Robinow syndrome 1, autosomal dominant Robinow syndrome 2, ciliary dyskinesia, primary, 40, nicotine dependence