Gene Gene information from NCBI Gene database.
Entrez ID 1857
Gene name Dishevelled segment polarity protein 3
Gene symbol DVL3
Synonyms (NCBI Gene)
DRS3
Chromosome 3
Chromosome location 3q27.1
Summary This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs753876000 G>A,T Likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs869025215 G>- Pathogenic Frameshift variant, coding sequence variant
rs869025216 A>C,G Pathogenic Splice acceptor variant
rs869025217 G>A,C Pathogenic, likely-pathogenic Splice acceptor variant
rs869025218 C>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1006
miRTarBase ID miRNA Experiments Reference
MIRT030326 hsa-miR-26b-5p Microarray 19088304
MIRT050752 hsa-miR-17-3p CLASH 23622248
MIRT048809 hsa-miR-93-5p CLASH 23622248
MIRT044424 hsa-miR-320a CLASH 23622248
MIRT039825 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 21880741
GO:0002020 Function Protease binding IPI 20227366
GO:0005102 Function Signaling receptor binding IEA
GO:0005102 Function Signaling receptor binding IPI 17030191
GO:0005109 Function Frizzled binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601368 3087 ENSG00000161202
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92997
Protein name Segment polarity protein dishevelled homolog DVL-3 (Dishevelled-3) (DSH homolog 3)
Protein function Involved in the signal transduction pathway mediated by multiple Wnt genes.
PDB 6V7O , 6ZBQ , 6ZBZ , 6ZC3 , 6ZC4 , 6ZC6 , 6ZC7 , 6ZC8 , 8S6A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00778 DIX 2 80 DIX domain Family
PF02377 Dishevelled 87 245 Dishevelled specific domain Family
PF00595 PDZ 249 334 PDZ domain Domain
PF00610 DEP 425 494 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF12316 Dsh_C 500 706 Segment polarity protein dishevelled (Dsh) C terminal Family
Sequence
Sequence length 716
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Notch signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  WNT mediated activation of DVL
PCP/CE pathway
Degradation of DVL
Disassembly of the destruction complex and recruitment of AXIN to the membrane
RHO GTPases Activate Formins
WNT5:FZD7-mediated leishmania damping
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant Robinow syndrome 1 Pathogenic; Likely pathogenic rs869025215, rs869025216, rs869025217, rs869025218, rs869025219 RCV000208632
RCV000208665
RCV000208714
RCV000208637
RCV000208671
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant Robinow syndrome 2 Pathogenic; Likely pathogenic rs869025215, rs869025216, rs869025217, rs869025218, rs869025219, rs1553811652 RCV003126593
RCV003126594
RCV003126595
RCV003126596
RCV003126597
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant Robinow syndrome 3 Likely pathogenic; Pathogenic rs2109022762, rs869025215, rs869025216, rs869025217, rs869025218, rs869025219, rs2473697428, rs1577052471, rs1577052785, rs2109023862 RCV001809133
RCV000210480
RCV000210487
RCV000210483
RCV000210486
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT ROBINOW SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLINODACTYLY OF THE 5TH FINGER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory kidney Accessory Kidney HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 28107606
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly BEFREE 29573971
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly Pubtator 29573971 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35499309 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 30468298
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 30468298 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant Robinow syndrome Robinow Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Avascular necrosis of the capital femoral epiphysis Avascular Necrosis Of The Capital Femoral Epiphysis HPO_DG
★☆☆☆☆
Found in Text Mining only