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] See more...

Aliases for DVL3 Gene

Aliases for DVL3 Gene

  • Dishevelled Segment Polarity Protein 3 2 3 5
  • Segment Polarity Protein Dishevelled Homolog DVL-3 3 4
  • Dishevelled 3 (Homologous To Drosophila Dsh) 2 3
  • Dishevelled, Dsh Homolog 3 (Drosophila) 2
  • Dishevelled, Dsh Homolog 3 3
  • DSH Homolog 3 4
  • Dishevelled-3 4
  • KIAA0208 4
  • DRS3 3

External Ids for DVL3 Gene

Previous GeneCards Identifiers for DVL3 Gene

  • GC03M180749
  • GC03P184867
  • GC03P185275
  • GC03P185194
  • GC03P185357
  • GC03P185358
  • GC03P185360
  • GC03P183873
  • GC03P181280

Summaries for DVL3 Gene

Entrez Gene Summary for DVL3 Gene

  • 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]

GeneCards Summary for DVL3 Gene

DVL3 (Dishevelled Segment Polarity Protein 3) is a Protein Coding gene. Diseases associated with DVL3 include Robinow Syndrome, Autosomal Dominant 3 and Robinow Syndrome. Among its related pathways are Signaling by Wnt and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and protease binding. An important paralog of this gene is DVL2.

UniProtKB/Swiss-Prot Summary for DVL3 Gene

  • Involved in the signal transduction pathway mediated by multiple Wnt genes.

Gene Wiki entry for DVL3 Gene

Additional gene information for DVL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DVL3 Gene

Genomics for DVL3 Gene

GeneHancer (GH) Regulatory Elements for DVL3 Gene

Promoters and enhancers for DVL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J184154 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 525.3 +1.2 1247 4.5 POLR2G SP1 NCOR1 TEAD4 ZFX ZNF639 ZBTB5 REST POLR2A ZBTB10 DVL3 PARL ENSG00000228205 EIF2B5 ABCF3 POLR2H ALG3 ECE2 CAMK2N2 PSMD2
GH03J184155 Promoter 0.3 Ensembl 500.7 -1.2 -1210 0.2 DVL3 ABCF3 AP2M1 ALG3 ECE2 VWA5B2 MIR1224 CAMK2N2 HTR3C HTR3E-AS1
GH03J184330 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 22 +180.1 180093 9 HNRNPK ZNF217 EP300 NRF1 TCF12 POLR2G USF1 SP1 PHF8 JUND FAM131A DVL3 ENSG00000228205 POLR2H EIF2B5 PARL ABCF3 PSMD2 VWA5B2 ECE2
GH03J184015 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 22 -138.5 -138508 4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC POLR2G SP1 PHF8 ABCC5 lnc-HTR3D-2 EIF2B5 DVL3 ENSG00000228205 YEATS2 POLR2H HTR3C AP2M1 ALG3
GH03J184184 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.1 +30.8 30786 3.6 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 POLR2G USF1 SP1 PHF8 SIX5 ABCF3 HSALNG0031211 POLR2H ALG3 EIF2B5 VWA5B2 DVL3 ENSG00000228205 ECE2 MIR1224
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DVL3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DVL3

Top Transcription factor binding sites by QIAGEN in the DVL3 gene promoter:
  • Arnt
  • CREB
  • FAC1
  • HEN1
  • Ik-2
  • MyoD
  • POU2F1
  • POU2F1a
  • TBP
  • YY1

Genomic Locations for DVL3 Gene

Genomic Locations for DVL3 Gene
chr3:184,155,311-184,173,614
(GRCh38/hg38)
Size:
18,304 bases
Orientation:
Plus strand
chr3:183,873,176-183,891,398
(GRCh37/hg19)
Size:
18,223 bases
Orientation:
Plus strand

Genomic View for DVL3 Gene

Genes around DVL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DVL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DVL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DVL3 Gene

Proteins for DVL3 Gene

  • Protein details for DVL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92997-DVL3_HUMAN
    Recommended name:
    Segment polarity protein dishevelled homolog DVL-3
    Protein Accession:
    Q92997
    Secondary Accessions:
    • B4E3E5
    • D3DNT0
    • O14642
    • Q13531
    • Q8N5E9
    • Q92607

    Protein attributes for DVL3 Gene

    Size:
    716 amino acids
    Molecular mass:
    78055 Da
    Quaternary structure:
    • Interacts (via the PDZ domain) with the C-terminal regions of VANGL1 and VANGL2 (By similarity). Interacts (via the region containing both the PDZ and DEP domains) with LRRFIP2; the DIX domain may inhibit this interaction. Interacts with CYLD, CEP164 and DAB2. Interacts with DCDC2. Interacts with FOXK1 and FOXK2 (PubMed:25805136). Interacts with DAAM2 (By similarity).
    SequenceCaution:
    • Sequence=BAA13199.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DVL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DVL3 Gene

Post-translational modifications for DVL3 Gene

  • Ubiquitinated. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains.
  • Phosphorylated by CSNK1D.
  • Arginine methylation may function as a switch in regulation of function in Wnt signaling.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DVL3 Gene

No data available for DME Specific Peptides for DVL3 Gene

Domains & Families for DVL3 Gene

Gene Families for DVL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DVL3 Gene

Blocks:
  • PDZ/DHR/GLGF domain
  • Pleckstrin putative G-protein interacting domain
  • Dishevelled protein
  • Dishevelled protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DVL3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61571, highly similar to Segment polarity protein dishevelled homolog DVL-3 (B4E3E5_HUMAN)
  • DSH homolog 3 (DVL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92997

UniProtKB/Swiss-Prot:

DVL3_HUMAN :
  • Belongs to the DSH family.
Family:
  • Belongs to the DSH family.
genes like me logo Genes that share domains with DVL3: view

Function for DVL3 Gene

Molecular function for DVL3 Gene

UniProtKB/Swiss-Prot Function:
Involved in the signal transduction pathway mediated by multiple Wnt genes.
GENATLAS Biochemistry:
Drosophila dishevelled segment polarity gene homolog 3,widely expressed,putatively involved in neural and heart development,activated in WNT signal transduction

Phenotypes From GWAS Catalog for DVL3 Gene

Gene Ontology (GO) - Molecular Function for DVL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 20227366
GO:0005102 signaling receptor binding IPI 17030191
GO:0005109 frizzled binding TAS 25424568
GO:0005515 protein binding IPI,IEA 10330181
GO:0008013 beta-catenin binding IDA 10644691
genes like me logo Genes that share ontologies with DVL3: view
genes like me logo Genes that share phenotypes with DVL3: view

Human Phenotype Ontology for DVL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DVL3 Gene

MGI Knock Outs for DVL3:

Animal Model Products

CRISPR Products

miRNA for DVL3 Gene

miRTarBase miRNAs that target DVL3

Clone Products

  • Addgene plasmids for DVL3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DVL3 Gene

Localization for DVL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DVL3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DVL3 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Intermediate filaments (2)
  • Midbody ring (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DVL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 21880741
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with DVL3: view

Pathways & Interactions for DVL3 Gene

genes like me logo Genes that share pathways with DVL3: view

Pathways by source for DVL3 Gene

1 Cell Signaling Technology pathway for DVL3 Gene
1 GeneTex pathway for DVL3 Gene

SIGNOR curated interactions for DVL3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DVL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IMP 20137080
GO:0007275 multicellular organism development IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0035567 non-canonical Wnt signaling pathway TAS,IMP 25424568
genes like me logo Genes that share ontologies with DVL3: view

Drugs & Compounds for DVL3 Gene

No Compound Related Data Available

Transcripts for DVL3 Gene

mRNA/cDNA for DVL3 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for DVL3

Alternative Splicing Database (ASD) splice patterns (SP) for DVL3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - - - -
SP3:
SP4: - -
SP5: - - -
SP6: -
SP7: - -

ExUns: 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for DVL3 Gene

GeneLoc Exon Structure for
DVL3

Expression for DVL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DVL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DVL3 Gene

This gene is overexpressed in Urinary Bladder (9.0), Placenta (8.1), Heart (7.0), and Gallbladder (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DVL3 Gene



Protein tissue co-expression partners for DVL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DVL3

SOURCE GeneReport for Unigene cluster for DVL3 Gene:

Hs.388116

Evidence on tissue expression from TISSUES for DVL3 Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Intestine(2.8)
  • Lung(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with DVL3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DVL3 Gene

Orthologs for DVL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DVL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DVL3 31 30
  • 99.95 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DVL3 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DVL3 31 30
  • 93.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DVL3 31 30
  • 93.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dvl3 17 31 30
  • 90.78 (n)
rat
(Rattus norvegicus)
Mammalia Dvl3 30
  • 90.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DVL3 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves DVL3 31 30
  • 82.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DVL3 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dvl3 30
  • 74.8 (n)
Str.6892 30
zebrafish
(Danio rerio)
Actinopterygii DVL3 (1 of 2) 31
  • 79 (a)
OneToMany
dvl3a 31
  • 73 (a)
OneToMany
LOC100149082 30
  • 70.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004448 30
  • 61.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta dsh 31 32 30
  • 58.84 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dsh-2 31
  • 29 (a)
ManyToMany
mig-5 31
  • 28 (a)
ManyToMany
dsh-1 31
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11084 31
  • 48 (a)
OneToMany
Cin.8546 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8546 30
Species where no ortholog for DVL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DVL3 Gene

ENSEMBL:
Gene Tree for DVL3 (if available)
TreeFam:
Gene Tree for DVL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DVL3: view image

Paralogs for DVL3 Gene

Paralogs for DVL3 Gene

(5) SIMAP similar genes for DVL3 Gene using alignment to 4 proteins:

  • DVL3_HUMAN
  • C9K0P9_HUMAN
  • F8WCF1_HUMAN
  • L8ECB2_HUMAN
genes like me logo Genes that share paralogs with DVL3: view

Variants for DVL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DVL3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
627534 Likely Pathogenic: Anteverted nares; Dental crowding; Short toe; Genu valgum; Lumbar hyperlordosis; Clinodactyly of the 5th finger; Short stature; Short finger; Tented upper lip vermilion; Midface retrusion; Neurodevelopmental delay 184,164,505(+) G/A MISSENSE_VARIANT
689755 Pathogenic: Robinow syndrome, autosomal dominant 3 184,170,095(+) GC/G FRAMESHIFT_VARIANT
694689 Pathogenic: Robinow syndrome, autosomal dominant 1 184,170,317(+) A/C SPLICE_ACCEPTOR_VARIANT
715642 Benign: not provided 184,164,326(+) G/A SYNONYMOUS_VARIANT
725028 Likely Benign: not provided 184,170,135(+) CCCCGCACCCATACAA INFRAME_DELETION

Additional dbSNP identifiers (rs#s) for DVL3 Gene

Structural Variations from Database of Genomic Variants (DGV) for DVL3 Gene

Variant ID Type Subtype PubMed ID
dgv131n73 CNV deletion 24416366
esv1000394 CNV deletion 20482838
esv1004549 CNV deletion 20482838
esv2514927 CNV deletion 19546169
esv2671751 CNV deletion 23128226
esv2726295 CNV deletion 23290073
esv3563010 CNV deletion 23714750
esv3598939 CNV loss 21293372
esv8912 CNV loss 19470904
nsv1073698 CNV deletion 25765185
nsv1114459 CNV deletion 24896259
nsv1126661 CNV deletion 24896259
nsv513096 CNV loss 21212237
nsv829812 CNV loss 17160897
nsv965241 CNV duplication 23825009

Variation tolerance for DVL3 Gene

Residual Variation Intolerance Score: 15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.27; 40.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DVL3 Gene

Human Gene Mutation Database (HGMD)
DVL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DVL3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DVL3 Gene

Disorders for DVL3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DVL3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DVL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DVL3_HUMAN
  • Robinow syndrome, autosomal dominant 3 (DRS3) [MIM:616894]: A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects. {ECO:0000269 PubMed:26924530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DVL3

genes like me logo Genes that share disorders with DVL3: view

No data available for Genatlas for DVL3 Gene

Publications for DVL3 Gene

  1. cDNA cloning of a human dishevelled DVL-3 gene, mapping to 3q27, and expression in human breast and colon carcinomas. (PMID: 9344861) Bui TD … Harris AL (Biochemical and biophysical research communications 1997) 3 4 23 54
  2. cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. (PMID: 8817329) Pizzuti A … Dallapiccola B (Human molecular genetics 1996) 2 3 4 54
  3. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. (PMID: 26924530) White JJ … Carvalho CMB (American journal of human genetics 2016) 3 4 54
  4. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. (PMID: 25557784) Schueler M … Hildebrandt F (American journal of human genetics 2015) 3 4 54
  5. A mega-analysis of genome-wide association studies for major depressive disorder. (PMID: 22472876) Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium … Sullivan PF (Molecular psychiatry 2013) 3 41 54

Products for DVL3 Gene

Sources for DVL3 Gene