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FLASH GENE
Symbol DVL3 contributors: mct - updated : 11-04-2014
HGNC name dishevelled, dsh homolog 3 (Drosophila)
HGNC id 3087
Corresponding disease
RBNS3 Robinow syndrome 3
Location 3q27.1      Physical location : 183.873.283 - 183.891.313
Synonym name dishevelled 3 (homologous to Drosophila dsh)
Synonym symbol(s) KIAA0208
DNA
TYPE functioning gene
STRUCTURE 18.03 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
DRE1 3q27.3 DRE1 protein FLJ10201 3q27.3 hypothetical protein FLJ10201 FLJ12748 3q27.3 hypothetical protein FLJ12748 PSARL 3q27.3 presenilin associated, rhomboid-like LOC391598 3 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) LOC391599 3 similar to cytochrome P450 2P1 ABCC5 3q27 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 LOC389179 3 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) HTR3D 3q27.3 5-hydroxytryptamine receptor 3 subunit D HTR3C 3q27.3 5-hydroxytryptamine receptor 3 subunit C LOC389180 3 similar to 5-hydroxytryptamine receptor 3 subunit C HTR3E 3q27.3 5-hydroxytryptamine serotonin receptor 3E LOC285244 3q27.3 similar to Heat shock protein HSP 90-alpha (HSP 86) EIF2B5 3q27 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa DVL3 3q27 dishevelled, dsh homolog 3 (Drosophila) LOC389181 3 hypothetical gene supported by U14990; U14992; NM_001005 AP2M1 3q28 adaptor-related protein complex 2, mu 1 subunit ABCF3 3q25-q25.2 ATP-binding cassette, sub-family F (GCN20), member 3 LOC90113 3q27.3 hypothetical protein BC009862 ALG3 3q27.3 asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase) MGC2408 3q27.3 hypothetical protein MGC2408 CAM-KIIN 3q27.3 CaM-KII inhibitory protein ECE2 3q27q28 endothelin converting enzyme 2 PSMD2 3q27.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 EIF4G1 3q27-qter eukaryotic translation initiation factor 4 gamma, 1 MGC21688 3q27.3 hypothetical protein MGC21688 CLCN2 3q27-q28 chloride channel 2 POLR2H 3q28 polymerase (RNA) II (DNA directed) polypeptide H THPO 3q27-q28 thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor) CHRD 3q27 chordin LOC285248 3q27.3 hypothetical LOC285248 LOC391600 3 similar to RIKEN cDNA 2310042E22
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 5062 - 716 - -
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 pharynx   highly
Endocrinethyroid   highly
Reproductivefemale systembreast   
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text placenta, fetal tissues
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal DSH/DIX motif
  • Dlg, Discs-large suppressor tumor protein (DHR/GLGZ/PDZ) motif
  • C-terminal region beyond the DEP domain displaying unique and interesting character, and sequence essential for the formation of punctae
    • conjugated PhosphoP
    mono polymer homomer , heteromer , oligo
    HOMOLOGY
    interspecies homolog to Drosophila dishevelled segment polarity gene 3
    ortholog to murine Dvl3
    homolog to C.elegans t05c12.6b
    intraspecies paralog to DVL1, DVL2
    Homologene
    FAMILY DSH family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • activated in WNT signal transduction
  • putatively involved in neural and heart development
  • DVL1, DVL2, DVL3 are core components in the correct routing and transmission of canonical and non-canonical Wnt signals, most likely by acting in large multiprotein complexes
  • multivalent scaffold essential to cell signaling in development
  • positive regulator in Wnt/CTNNB1 signaling and an oncogenic player in cervical cancer tumorigenesis
  • association of DVL1 and DVL3 with Hirschsprung disease (HSCR), it may play an important role in the pathogenesis of HSCR
    • CELLULAR PROCESS cell life, proliferation/growth
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text embryogenesis and morphogenesis
    PATHWAY
    metabolism
    signaling signal transduction
  • important component of Wnt/CTNNB1 signaling pathway
    • a component
  • very large DVL3-based supermolecular complexes form in response to WNT3A
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of LRRK2 with the dishevelled family of phosphoproteins (DVL1-3), key regulators of Wnt (Wingless/Int) signalling pathways is important for axon guidance
  • translocates IPMK to the cell membrane in response to Wnt
  • genetic interactions between FZD2, FZD7 and VANGL2, DVL3 and WNT genes reflect interactions among different signaling pathways in developmental processes that are highly sensitive to perturbations in Frizzled signaling
  • AMPK activators suppress cervical cancer cell growth by impairing DVL3 protein synthesis via AMPK/MTOR signaling and/or partially promoting the proteasomal degradation of DVL3
  • PDZRN3 ubiquitinates Dishevelled 3 (DVL3), to promote endocytosis of the Frizzled/DVL3 complex, for planar cell polarity (PCP) signal transduction
  • stimulated by the hyperphosphorylation of DVL3 by CNSK1E, ROR2 has been shown to interact with DVL3
    • cell & other
    REGULATION
    Other regulated by post-translational modifications
    ASSOCIATED DISORDERS
    corresponding disease(s) RBNS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS