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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DVL1
dishevelled segment polarity protein 1
Chromosome 1 Β· 1p36.33
NCBI Gene: 1855Ensembl: ENSG00000107404.22HGNC: HGNC:3084UniProt: O14640
176PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lateral plasma membraneWnt signaling pathway, planar cell polarity pathwayprotein kinase bindingpositive regulation of transcription by RNA polymerase IIautosomal dominant Robinow syndromeRobinow syndromegenetic disorderciliary dyskinesia, primary, 40
✦AI Summary

DVL1 (dishevelled segment polarity protein 1) is a core signaling molecule that transduces Wnt signals from the cell membrane to downstream effectors, functioning in both canonical and non-canonical Wnt pathways 1. DVL1 binds to frizzled family receptors and requires nuclear localization to regulate cell proliferation in myoblasts 1. Additionally, DVL1 forms a ternary complex with PAK1 and MUSK to regulate acetylcholine receptor clustering during neuromuscular junction formation. DVL1 plays significant roles in multiple disease contexts. Mutations in DVL1 are associated with Robinow syndrome, an autosomal dominant skeletal dysplasia characterized by short limbs and facial anomalies, reflecting DVL1's importance in non-canonical Wnt-mediated skeletal morphogenesis 2. DVL1 is frequently overexpressed in prostate cancer (65% of cases), with expression levels correlating with tumor grade and progression through Wnt/Ξ²-catenin pathway activation 3. In hepatocellular carcinoma, DVL1 induction promotes Wnt pathway activation and ferroptosis resistance, marking it as a prognostic indicator of poor sorafenib response 4. DVL1 is also highly expressed in diabetes and has been identified as a potential molecular target 5, and shows elevated expression in retinoblastoma with positive correlations to N-myc 6. Clinically, DVL1 represents a therapeutic target for cancers dependent on aberrant Wnt signaling and potentially for metabolic diseases.

Sources cited
1
DVL1 is necessary for proliferation in human myoblasts, requires nuclear localization to regulate proliferation, and functions in myogenic differentiation independent of Ξ²-catenin nuclear translocation
PMID: 35589804
2
DVL1 mutations are associated with Robinow syndrome and dysmorphic skeletal disorders; DVL1 is a component of the non-canonical Wnt pathway regulating skeletal morphogenesis
PMID: 30814377
3
DVL1 is overexpressed in 65% of prostate cancer cases with expression correlating to histological grade and beta-catenin expression
PMID: 16457155
4
DVL1 is an indispensable Wnt activator and prognostic indicator of poor survival in sorafenib-treated hepatocellular carcinoma patients; DDX5 overexpression suppresses DVL1 and enhances sorafenib efficacy
PMID: 38036507
5
DVL1 is highly expressed in diabetes samples and may serve as a molecular target for diabetes management
PMID: 39495995
6
DVL1 shows elevated expression in retinoblastoma with positive correlation to N-myc expression across different retinoblastoma subtypes
PMID: 39738380
Disease Associationsβ“˜21
autosomal dominant Robinow syndromeOpen Targets
0.74Strong
Robinow syndromeOpen Targets
0.73Strong
genetic disorderOpen Targets
0.42Moderate
ciliary dyskinesia, primary, 40Open Targets
0.12Weak
neoplasmOpen Targets
0.10Weak
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
neuroendocrine neoplasmOpen Targets
0.05Suggestive
retinoblastomaOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
prostate cancerOpen Targets
0.04Suggestive
intellectual disability, autosomal recessive 6Open Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
hereditary geniospasmOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
urinary bladder carcinomaOpen Targets
0.03Suggestive
Robinow syndrome, autosomal dominant 2UniProt
Pathogenic Variants24
NM_001330311.2(DVL1):c.1594del (p.Trp532fs)Pathogenic
Autosomal dominant Robinow syndrome 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 532
NM_001330311.2(DVL1):c.1695del (p.Ser567fs)Pathogenic
not provided|Autosomal dominant Robinow syndrome 2
β˜…β˜…β˜†β˜†2024β†’ Residue 567
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜…β˜†β˜†2024β†’ Residue 524
NM_001330311.2(DVL1):c.363-1G>CLikely pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2022
NM_001330311.2(DVL1):c.1637del (p.Pro546fs)Pathogenic
Autosomal dominant Robinow syndrome 2|Autosomal dominant Robinow syndrome 1
β˜…β˜†β˜†β˜†2022β†’ Residue 546
NM_001330311.2(DVL1):c.1631del (p.Gly544fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2020β†’ Residue 544
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)Likely pathogenic
Autosomal dominant Robinow syndrome 1
β˜…β˜†β˜†β˜†2019β†’ Residue 562
NM_001330311.2(DVL1):c.1547del (p.Thr516fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2018β†’ Residue 516
NM_001330311.2(DVL1):c.1131C>A (p.Tyr377Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 377
NM_001330311.2(DVL1):c.1694_1706del (p.Thr565fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 565
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2017β†’ Residue 527
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)Likely pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2017β†’ Residue 564
NM_001330311.2(DVL1):c.1698del (p.Ser567fs)Likely pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2017β†’ Residue 567
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs)Likely pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2017β†’ Residue 562
NM_001330311.2(DVL1):c.1324_1331dup (p.Val445fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 445
NM_001330311.2(DVL1):c.1579del (p.His527fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2016β†’ Residue 527
NM_001330311.2(DVL1):c.1598del (p.Pro533fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2015β†’ Residue 533
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2015β†’ Residue 549
NM_001330311.2(DVL1):c.1583del (p.Pro528fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2015β†’ Residue 528
NM_001330311.2(DVL1):c.1604del (p.Gly535fs)Pathogenic
Autosomal dominant Robinow syndrome 2
β˜…β˜†β˜†β˜†2015β†’ Residue 535
View on ClinVar β†—
Related Genes
AXIN1Protein interaction100%DIXDC1Protein interaction100%PTK7Protein interaction100%LRRK2Protein interaction100%VANGL1Protein interaction99%VANGL2Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Ovary
82%
Lung
74%
Heart
59%
Brain
40%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
DVL1AXIN1DIXDC1PTK7LRRK2VANGL1VANGL2
PROTEIN STRUCTURE
Preparing viewer…
PDB6LCB Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.66–1.05]
RankingsWhere DVL1 stands among ~20K protein-coding genes
  • #2,478of 20,598
    Most Researched176 Β· top quartile
  • #2,002of 5,498
    Most Pathogenic Variants24
  • #10,442of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedDVL1
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
1.00
2
DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
PMID: 35589804
Sci Rep Β· 2022
0.90
3
Upregulation and overexpression of DVL1, the human counterpart of the Drosophila dishevelled gene, in prostate cancer.
PMID: 16457155
Tumori Β· 2005
0.80
4
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
PMID: 35047859
HGG Adv Β· 2022
0.72
5
Exploration and identification of diabetes targets in nursing: CDH1 and DVL1.
PMID: 39495995
Medicine (Baltimore) Β· 2024
0.70