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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 Robinow Syndrome, Autosomal Dominant 3 and Robinow Syndrome. Among its related pathways are Transcription Androgen Receptor nuclear signaling and Endometrial cancer. 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

Additional gene information for DVL3 Gene

No data available for CIViC summary , 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
GH03H183284 2 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -869.0 -868976 4 HDGF PKNOX1 ATF1 ZFP64 SIN3A FEZF1 BRCA1 YY1 ZNF766 ELK1 B3GNT5 DVL3 MCCC1-AS1 PARL RNA5SP151 RPS3P3 EIF2B5 MCCC1 KLHL6 ATP11B
GH03H183634 1.3 ENCODE dbSUPER 15.9 -518.7 -518665 3 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF207 ZNF143 POLR2H YEATS2 DVL3 MCCC1-AS1 PARL KLHL24 RPS3P3 EIF2B5 KLHL6
GH03H183544 1.1 ENCODE dbSUPER 17.1 -610.5 -610539 1 HDGF PKNOX1 RB1 MAX IRF3 BMI1 EBF1 RFX5 POLR2A NFYB DVL3 PARL RPS3P3 POLR2H ATP11B KLHL24 YEATS2 KLHL6-AS1 ENSG00000271682
GH03H184133 1.2 ENCODE 15.3 -20.1 -20074 3 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF766 ZNF207 ZNF143 VWA5B2 DVL3 RPS3P3 AP2M1 ABCC5-AS1 ABCC5 HTR3C CAMK2N2 EIF4G1 ENSG00000273181
GH03H184171 1.6 Ensembl ENCODE dbSUPER 10.9 +19.9 19851 8 HDGF ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS SP3 SP5 VWA5B2 ABCF3 EIF2B5 DVL3 ECE2 EEF1AKMT4-ECE2 EEF1AKMT4 ALG3 MIR1224 CAMK2N2
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000162885 589 2601 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF121 SLC30A9 GLIS2 ELK1 ZNF143

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

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
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DVL3 Gene

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

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.

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 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

CRISPR Products

miRNA for DVL3 Gene

miRTarBase miRNAs that target DVL3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DVL3
  • Applied Biological Materials Clones for DVL3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 2
plasma membrane 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

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,IDA 10644691
GO:0035556 intracellular signal transduction IEA --
GO:0035567 non-canonical Wnt signaling pathway IMP 19137009
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DVL3
  • Applied Biological Materials Clones for DVL3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

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

Primer Products

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 33 34
  • 99.95 (n)
oppossum
(Monodelphis domestica)
Mammalia DVL3 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DVL3 33 34
  • 93.16 (n)
cow
(Bos Taurus)
Mammalia DVL3 34 33
  • 93.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dvl3 16 34 33
  • 90.78 (n)
rat
(Rattus norvegicus)
Mammalia Dvl3 33
  • 90.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DVL3 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves DVL3 34 33
  • 82.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DVL3 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dvl3 33
  • 74.8 (n)
Str.6892 33
zebrafish
(Danio rerio)
Actinopterygii DVL3 (1 of 2) 34
  • 79 (a)
OneToMany
dvl3a 34
  • 73 (a)
OneToMany
LOC100149082 33
  • 70.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004448 33
  • 61.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta dsh 35 33 34
  • 58.84 (n)
worm
(Caenorhabditis elegans)
Secernentea dsh-2 34
  • 29 (a)
ManyToMany
mig-5 34
  • 28 (a)
ManyToMany
dsh-1 34
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11084 34
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8546 33
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

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

Disorder Aliases PubMed IDs
robinow syndrome, autosomal dominant 3
  • autosomal dominant robinow syndrome 3
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
robinow syndrome, autosomal dominant 1
  • autosomal dominant robinow syndrome 1
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 TD … Harris AL (Biochemical and biophysical research communications 1997) 3 4 22 60
  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 60
  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 60
  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 60
  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 45 60

Products for DVL3 Gene

  • Addgene plasmids for DVL3

Sources for DVL3 Gene

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