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Aliases for DVL3 Gene

Aliases for DVL3 Gene

  • Dishevelled Segment Polarity Protein 3 2 3 5
  • Dishevelled 3 (Homologous To Drosophila Dsh) 2 3
  • Segment Polarity Protein Dishevelled Homolog DVL-3 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 Autosomal Dominant Robinow Syndrome 3 and Robinow Syndrome, Autosomal Dominant 1. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and HTLV-I infection. GO annotations related to this gene include protein heterodimerization activity and protease binding. An important paralog of this gene is DVL2.

UniProtKB/Swiss-Prot for DVL3 Gene

  • May play a role in the signal transduction pathway mediated by multiple Wnt genes.

Gene Wiki entry for DVL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DVL3 Gene

Genomics for DVL3 Gene

Regulatory Elements for DVL3 Gene

Enhancers for DVL3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F184171 1 Ensembl ENCODE 10.8 +19.9 19851 8.0 HDGF CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS ZNF263 MCM3 VWA5B2 ABCF3 EIF2B5 DVL3 ALG3 ECE2 MIR1224 CAMK2N2 PARL AP2M1
GH03F184154 0.4 ENCODE 8.2 +1.1 1086 4.2 ARID4B SIN3A DMAP1 ZNF121 SLC30A9 GLIS2 ELK1 ZNF143 KLF7 KLF13 EIF2B5 ALG3 ECE2 CAMK2N2 ABCF3 PSMD2 VWA5B2 MIR1224 EIF4G1 SNORD66
GH03F184184 0.6 ENCODE 7.3 +30.8 30787 3.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 VWA5B2 POLR2H ABCF3 EIF2B5 ALG3 ECE2 MIR1224 CAMK2N2 PSMD2 EIF4G1
GH03F184133 0.6 ENCODE 6.4 -20.1 -20074 3.1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 ZNF143 PARL VWA5B2 EEF1A1P8 POLR2H MAGEF1 HSP90AA5P AP2M1 ABCC5-AS1 ENSG00000273403 ABCC5
GH03F184330 1.1 Ensembl ENCODE 4.9 +180.1 180094 9.0 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS KLF13 DEK ABCF3 PARL PSMD2 VWA5B2 ECE2 DVL3 FAM131A SNORD66
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DVL3 on UCSC Golden Path with GeneCards custom track

Promoters for DVL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001381256 790 3800 ARID4B SIN3A DMAP1 ZNF121 SLC30A9 GLIS2 ELK1 ZNF143 KLF7 KLF13

Genomic Location for DVL3 Gene

Chromosome:
3
Start:
184,155,311 bp from pter
End:
184,173,610 bp from pter
Size:
18,300 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).
    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

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

Other Protein References for DVL3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DVL3 (DVL3)

No data available for DME Specific Peptides for DVL3 Gene

Domains & Families for DVL3 Gene

Suggested Antigen Peptide Sequences for DVL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q92997

UniProtKB/Swiss-Prot:

DVL3_HUMAN :
  • Contains 1 DEP domain.
  • Belongs to the DSH family.
Domain:
  • Contains 1 DEP domain.
  • Contains 1 DIX domain.
  • Contains 1 PDZ (DHR) domain.
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

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

Gene Ontology (GO) - Molecular Function for DVL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 20227366
GO:0005102 receptor binding IPI 17030191
GO:0005109 frizzled binding IPI 19388021
GO:0005515 protein binding IPI 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

Animal Models for DVL3 Gene

MGI Knock Outs for DVL3:

Animal Model Products

miRNA for DVL3 Gene

miRTarBase miRNAs that target DVL3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DVL3

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for DVL3 Gene COMPARTMENTS Subcellular localization image for DVL3 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
plasma membrane 1

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 --
GO:1990909 Wnt signalosome IEA --
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

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:0003007 heart morphogenesis IEA --
GO:0003148 outflow tract septum morphogenesis IEA --
GO:0007275 multicellular organism development IEA --
GO:0016055 Wnt signaling pathway IEA,IDA 10644691
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

Unigene Clusters for DVL3 Gene

Dishevelled, dsh homolog 3 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DVL3

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for DVL3 Gene



Protein tissue co-expression partners for DVL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of DVL3 Gene:

DVL3

SOURCE GeneReport for Unigene cluster for DVL3 Gene:

Hs.388116
genes like me logo Genes that share expression patterns with DVL3: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.95 (n)
oppossum
(Monodelphis domestica)
Mammalia DVL3 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DVL3 34 35
  • 93.16 (n)
dog
(Canis familiaris)
Mammalia DVL3 34 35
  • 93.16 (n)
mouse
(Mus musculus)
Mammalia Dvl3 34 16 35
  • 90.78 (n)
rat
(Rattus norvegicus)
Mammalia Dvl3 34
  • 90.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DVL3 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves DVL3 34 35
  • 82.46 (n)
lizard
(Anolis carolinensis)
Reptilia DVL3 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dvl3 34
  • 74.8 (n)
Str.6892 34
zebrafish
(Danio rerio)
Actinopterygii DVL3 (1 of 2) 35
  • 79 (a)
OneToMany
dvl3a 35
  • 73 (a)
OneToMany
LOC100149082 34
  • 70.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004448 34
  • 61.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta dsh 36 34 35
  • 58.84 (n)
worm
(Caenorhabditis elegans)
Secernentea dsh-2 35
  • 29 (a)
ManyToMany
mig-5 35
  • 28 (a)
ManyToMany
dsh-1 35
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11084 35
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8546 34
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)

Paralogs for DVL3 Gene

Paralogs for DVL3 Gene

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

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

Variants for DVL3 Gene

Sequence variations from dbSNP and Humsavar for DVL3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_036116 A breast cancer sample
rs869025215 Pathogenic 184,170,092(+) CGGGG(-/G)CCGCC reference, frameshift-variant
rs869025216 Pathogenic 184,170,317(+) CCTAC(A/G)GGCAG splice-acceptor-variant
rs869025217 Pathogenic 184,170,318(+) CTACA(A/G)GCAGT splice-acceptor-variant
rs869025218 Pathogenic 184,170,320(+) ACAGG(-/C)AGTCG reference, frameshift-variant

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)

Relevant External Links for DVL3 Gene

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

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

Disorders for DVL3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autosomal dominant robinow syndrome 3
  • drs3
robinow syndrome, autosomal dominant 1
  • robinow syndrome
autosomal dominant robinow syndrome
  • fetal face syndrome
- 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.

Relevant External Links for DVL3

Genetic Association Database (GAD)
DVL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 T.D. … Harris A.L. (Biochem. Biophys. Res. Commun. 1997) 3 4 22 64
  2. cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. (PMID: 8817329) Pizzuti A. … Dallapiccola B. (Hum. Mol. Genet. 1996) 2 3 4 64
  3. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. (PMID: 26924530) White J.J. … Carvalho C.M. (Am. J. Hum. Genet. 2016) 3 4 64
  4. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. (PMID: 25557784) Schueler M. … Hildebrandt F. (Am. J. Hum. Genet. 2015) 3 4 64
  5. A mega-analysis of genome-wide association studies for major depressive disorder. (PMID: 22472876) . … Sullivan P.F. (Mol. Psychiatry 2013) 3 46 64

Products for DVL3 Gene

Sources for DVL3 Gene

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