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    DVL3 dishevelled segment polarity protein 3 [ Homo sapiens (human) ]

    Gene ID: 1857, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DVL3provided by HGNC
    Official Full Name
    dishevelled segment polarity protein 3provided by HGNC
    Primary source
    HGNC:HGNC:3087
    See related
    Ensembl:ENSG00000161202 MIM:601368; AllianceGenome:HGNC:3087
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRS3
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 25.5), endometrium (RPKM 18.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DVL3 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184155377..184173614)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186964902..186982556)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183873165..183891402)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20902 Neighboring gene eukaryotic translation initiation factor 2B subunit epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14955 Neighboring gene ribosomal protein S3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183873749-183874626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183874627-183875502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183878685-183879185 Neighboring gene Sharpr-MPRA regulatory region 1463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14957 Neighboring gene Sharpr-MPRA regulatory region 464 Neighboring gene adaptor related protein complex 2 subunit mu 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183900972-183901486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183902780-183903494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20904 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:183908066-183909265 Neighboring gene ATP binding cassette subfamily F member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Delicate analysis of post-translational modifications on Dishevelled 3. Wu C, et al. J Proteome Res, 2012 Jul 6. PMID 22612246
    2. Dishevelled Segment Polarity Protein 3 (DVL3) Induced by Bacterial LPS Promotes the Proliferation and Migration of Prostate Cancer Cells through the TLR4 Pathway. Zhang Y, et al. Arch Esp Urol, 2024 Mar. PMID 38583012
    3. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. Danyel M, et al. Am J Med Genet A, 2018 Apr. PMID 29575616
    4. Comparative phosphorylation map of Dishevelled 3 links phospho-signatures to biological outputs. Hanáková K, et al. Cell Commun Signal, 2019 Dec 23. PMID 31870452, Free PMC Article
    5. Disheveled3 enhanced EMT and cancer stem-like cells properties via Wnt/β-catenin/c-Myc/SOX2 pathway in colorectal cancer. Li Z, et al. J Transl Med, 2023 May 5. PMID 37147666, Free PMC Article

    See all (150) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK pathway.
      Title: WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK pathway.
    2. Dishevelled Segment Polarity Protein 3 (DVL3) Induced by Bacterial LPS Promotes the Proliferation and Migration of Prostate Cancer Cells through the TLR4 Pathway.
      Title: Dishevelled Segment Polarity Protein 3 (DVL3) Induced by Bacterial LPS Promotes the Proliferation and Migration of Prostate Cancer Cells through the TLR4 Pathway.
    3. Disheveled3 enhanced EMT and cancer stem-like cells properties via Wnt/beta-catenin/c-Myc/SOX2 pathway in colorectal cancer.
      Title: Disheveled3 enhanced EMT and cancer stem-like cells properties via Wnt/β-catenin/c-Myc/SOX2 pathway in colorectal cancer.
    4. RNA-Binding Protein MEX3A Interacting with DVL3 Stabilizes Wnt/beta-Catenin Signaling in Endometrial Carcinoma.
      Title: RNA-Binding Protein MEX3A Interacting with DVL3 Stabilizes Wnt/β-Catenin Signaling in Endometrial Carcinoma.
    5. Circ_0101802 Facilitates Colorectal Cancer Progression Depending on the Regulation of miR-665/DVL3 Signaling.
      Title: Circ_0101802 Facilitates Colorectal Cancer Progression Depending on the Regulation of miR-665/DVL3 Signaling.
    6. Exosomal Dvl3 promoted the aggressive phenotypic transformation of RA-FLS via wnt pathway.
      Title: Exosomal Dvl3 promoted the aggressive phenotypic transformation of RA-FLS via wnt pathway.
    7. DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
      Title: DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
    8. The Gender-Specific Interaction of DVL3 and GSK3beta Polymorphisms on Major Depressive Disorder Susceptibility in a Chinese Han Population: A Case-Control Study.
      Title: The Gender-Specific Interaction of DVL3 and GSK3β Polymorphisms on Major Depressive Disorder Susceptibility in a Chinese Han Population: A Case-Control Study.
    9. Clinical and molecular characterization of four patients with Robinow syndrome from different families.
      Title: Clinical and molecular characterization of four patients with Robinow syndrome from different families.
    10. DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway.
      Title: DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant Robinow syndrome 3
    MedGen: C4225164 OMIM: 616894 GeneReviews: Autosomal Dominant Robinow Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    A mega-analysis of genome-wide association studies for major depressive disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0208

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables frizzled binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables frizzled binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables frizzled binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway, planar cell polarity pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in Wnt signaling pathway, planar cell polarity pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in non-canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection arborization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein stabilization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    segment polarity protein dishevelled homolog DVL-3
    Names
    dishevelled 3 (homologous to Drosophila dsh)
    dishevelled, dsh homolog 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046860.1 RefSeqGene

      Range
      5067..23304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1269

    mRNA and Protein(s)

    1. NM_004423.4 → NP_004414.3  segment polarity protein dishevelled homolog DVL-3

      See identical proteins and their annotated locations for NP_004414.3

      Status: REVIEWED

      Source sequence(s)
      AC131235, D86963, U75651
      Consensus CDS
      CCDS3253.1
      UniProtKB/Swiss-Prot
      B4E3E5, D3DNT0, O14642, Q13531, Q8N5E9, Q92607, Q92997
      UniProtKB/TrEMBL
      Q8WVA8
      Related
      ENSP00000316054.3, ENST00000313143.9
      Conserved Domains (5) summary
      smart00021
      Location:1 → 82
      DAX; Domain present in Dishevelled and axin
      cd00992
      Location:247 → 334
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04438
      Location:413 → 496
      DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...
      pfam02377
      Location:92 → 245
      Dishevelled; Dishevelled specific domain
      pfam12316
      Location:500 → 706
      Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      184155377..184173614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      186964902..186982556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92997.2 GenPept UniProtKB/Swiss-Prot:Q92997

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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