Human Gene DVL3 (ENST00000313143.9_5) from GENCODE V47lift37
  Description: dishevelled segment polarity protein 3 (from RefSeq NM_004423.4)
Gencode Transcript: ENST00000313143.9_5
Gencode Gene: ENSG00000161202.20_13
Transcript (Including UTRs)
   Position: hg19 chr3:183,873,165-183,891,402 Size: 18,238 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr3:183,873,424-183,888,543 Size: 15,120 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:183,873,165-183,891,402)mRNA (may differ from genome)Protein (716 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DVL3_HUMAN
DESCRIPTION: RecName: Full=Segment polarity protein dishevelled homolog DVL-3; Short=Dishevelled-3; AltName: Full=DSH homolog 3;
FUNCTION: May play a role in the signal transduction pathway mediated by multiple Wnt genes.
SUBUNIT: 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.
INTERACTION: Q9Y608:LRRFIP2; NbExp=2; IntAct=EBI-739789, EBI-1023718; O43395:PRPF3; NbExp=2; IntAct=EBI-739789, EBI-744322;
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
PTM: Ubiquitinated. Deubiquitinated by CYLD, which acts on 'Lys- 63'-linked ubiquitin chains.
PTM: Phosphorylated by CSNK1D.
SIMILARITY: Belongs to the DSH family.
SIMILARITY: Contains 1 DEP domain.
SIMILARITY: Contains 1 DIX domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
SEQUENCE CAUTION: Sequence=BAA13199.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DVL3
Diseases sorted by gene-association score: robinow syndrome, autosomal dominant 3* (919), robinow syndrome* (306), robinow syndrome, autosomal dominant 1* (283), autosomal dominant robinow syndrome* (213)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.40 RPKM in Cervix - Endocervix
Total median expression: 1200.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -166.90259-0.644 Picture PostScript Text
3' UTR -849.622859-0.297 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000591 - DEP_dom
IPR008342 - Dishevelled_3
IPR024580 - Dishevelled_C-dom
IPR008339 - Dishevelled_fam
IPR003351 - Dishevelled_protein_dom
IPR001158 - DIX
IPR015506 - Dsh/Dvl-rel
IPR001478 - PDZ
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00595 - PDZ domain
PF00610 - Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
PF00778 - DIX domain
PF02377 - Dishevelled specific domain
PF12316 - Segment polarity protein dishevelled (Dsh) C terminal

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
50156 - PDZ domain-like
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on Q92997
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0005102 receptor binding
GO:0005109 frizzled binding
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0046982 protein heterodimerization activity
GO:0048365 Rac GTPase binding

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0007275 multicellular organism development
GO:0016055 Wnt signaling pathway
GO:0035556 intracellular signal transduction
GO:0035567 non-canonical Wnt signaling pathway
GO:0038031 non-canonical Wnt signaling pathway via JNK cascade
GO:0042493 response to drug
GO:0043507 positive regulation of JUN kinase activity
GO:0043547 positive regulation of GTPase activity
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050821 protein stabilization
GO:0060070 canonical Wnt signaling pathway
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090179 planar cell polarity pathway involved in neural tube closure
GO:1903827 regulation of cellular protein localization
GO:1904886 beta-catenin destruction complex disassembly

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  U75651 - Human dishevelled 3 (DVL3) mRNA, complete cds.
AK304686 - Homo sapiens cDNA FLJ61571 complete cds, highly similar to Segment polarity protein dishevelled homolog DVL-3.
JD437011 - Sequence 418035 from Patent EP1572962.
JD407010 - Sequence 388034 from Patent EP1572962.
LF385115 - JP 2014500723-A/192618: Polycomb-Associated Non-Coding RNAs.
D86963 - Homo sapiens mRNA for KIAA0208 gene, partial cds.
JD128613 - Sequence 109637 from Patent EP1572962.
U49262 - Human dishevelled (DVL) mRNA, complete cds.
BC032459 - Homo sapiens dishevelled, dsh homolog 3 (Drosophila), mRNA (cDNA clone MGC:40316 IMAGE:5200610), complete cds.
JD127949 - Sequence 108973 from Patent EP1572962.
AF006013 - Homo sapiens dishevelled 3 (DVL3) mRNA, complete cds.
CU689382 - Synthetic construct Homo sapiens gateway clone IMAGE:100017781 5' read DVL3 mRNA.
AB463014 - Synthetic construct DNA, clone: pF1KB9776, Homo sapiens DVL3 gene for dishevelled, dsh homolog 3, without stop codon, in Flexi system.
KJ896738 - Synthetic construct Homo sapiens clone ccsbBroadEn_06132 DVL3 gene, encodes complete protein.
DQ891616 - Synthetic construct clone IMAGE:100004246; FLH178665.01X; RZPDo839F09128D dishevelled, dsh homolog 3 (Drosophila) (DVL3) gene, encodes complete protein.
DQ894808 - Synthetic construct Homo sapiens clone IMAGE:100009268; FLH178661.01L; RZPDo839F09127D dishevelled, dsh homolog 3 (Drosophila) (DVL3) gene, encodes complete protein.
AK093469 - Homo sapiens cDNA FLJ36150 fis, clone TESTI2025269, highly similar to SEGMENT POLARITY PROTEIN DISHEVELLED HOMOLOG DVL-3.
AX748146 - Sequence 1671 from Patent EP1308459.
BC018289 - Homo sapiens, clone IMAGE:3454067, mRNA, partial cds.
AL110278 - Homo sapiens mRNA; cDNA DKFZp586M1622 (from clone DKFZp586M1622); partial cds.
U48252 - Human protein kinase C-binding protein RACK8 mRNA, partial cds.
JD387774 - Sequence 368798 from Patent EP1572962.
JD337979 - Sequence 319003 from Patent EP1572962.
JD054435 - Sequence 35459 from Patent EP1572962.
JD104904 - Sequence 85928 from Patent EP1572962.
JD308680 - Sequence 289704 from Patent EP1572962.
JD092713 - Sequence 73737 from Patent EP1572962.
JD104517 - Sequence 85541 from Patent EP1572962.
JD126311 - Sequence 107335 from Patent EP1572962.
JD399758 - Sequence 380782 from Patent EP1572962.
JD152624 - Sequence 133648 from Patent EP1572962.
JD058703 - Sequence 39727 from Patent EP1572962.
JD372837 - Sequence 353861 from Patent EP1572962.
JD196997 - Sequence 178021 from Patent EP1572962.
JD253604 - Sequence 234628 from Patent EP1572962.
JD086116 - Sequence 67140 from Patent EP1572962.
JD130429 - Sequence 111453 from Patent EP1572962.
JD385957 - Sequence 366981 from Patent EP1572962.
JD111517 - Sequence 92541 from Patent EP1572962.
JD086003 - Sequence 67027 from Patent EP1572962.
JD455952 - Sequence 436976 from Patent EP1572962.
JD270052 - Sequence 251076 from Patent EP1572962.
JD399821 - Sequence 380845 from Patent EP1572962.
JD518570 - Sequence 499594 from Patent EP1572962.
JD157288 - Sequence 138312 from Patent EP1572962.
JD466877 - Sequence 447901 from Patent EP1572962.
JD558136 - Sequence 539160 from Patent EP1572962.
JD077154 - Sequence 58178 from Patent EP1572962.
JD127862 - Sequence 108886 from Patent EP1572962.
JD141848 - Sequence 122872 from Patent EP1572962.
JD024601 - Sequence 5625 from Patent EP1572962.
JD418170 - Sequence 399194 from Patent EP1572962.
JD511049 - Sequence 492073 from Patent EP1572962.
JD222097 - Sequence 203121 from Patent EP1572962.
JD459696 - Sequence 440720 from Patent EP1572962.
JD534055 - Sequence 515079 from Patent EP1572962.
JD120486 - Sequence 101510 from Patent EP1572962.
JD133802 - Sequence 114826 from Patent EP1572962.
JD133803 - Sequence 114827 from Patent EP1572962.
JD419943 - Sequence 400967 from Patent EP1572962.
JD051087 - Sequence 32111 from Patent EP1572962.
JD502729 - Sequence 483753 from Patent EP1572962.
JD310162 - Sequence 291186 from Patent EP1572962.
JD110030 - Sequence 91054 from Patent EP1572962.
JD237173 - Sequence 218197 from Patent EP1572962.
JD466655 - Sequence 447679 from Patent EP1572962.
JD523307 - Sequence 504331 from Patent EP1572962.
JD185123 - Sequence 166147 from Patent EP1572962.
JD054574 - Sequence 35598 from Patent EP1572962.
JD330399 - Sequence 311423 from Patent EP1572962.
JD518368 - Sequence 499392 from Patent EP1572962.
JD118179 - Sequence 99203 from Patent EP1572962.
JD509132 - Sequence 490156 from Patent EP1572962.
JD359593 - Sequence 340617 from Patent EP1572962.
JD531584 - Sequence 512608 from Patent EP1572962.
JD348414 - Sequence 329438 from Patent EP1572962.
JD158727 - Sequence 139751 from Patent EP1572962.
JD411831 - Sequence 392855 from Patent EP1572962.
JD089170 - Sequence 70194 from Patent EP1572962.
JD551322 - Sequence 532346 from Patent EP1572962.
JD430656 - Sequence 411680 from Patent EP1572962.
JD047408 - Sequence 28432 from Patent EP1572962.
JD518328 - Sequence 499352 from Patent EP1572962.
JD118009 - Sequence 99033 from Patent EP1572962.
JD118010 - Sequence 99034 from Patent EP1572962.
JD372516 - Sequence 353540 from Patent EP1572962.
JD073772 - Sequence 54796 from Patent EP1572962.
JD447285 - Sequence 428309 from Patent EP1572962.
JD517989 - Sequence 499013 from Patent EP1572962.
JD220040 - Sequence 201064 from Patent EP1572962.
JD220041 - Sequence 201065 from Patent EP1572962.
JD559218 - Sequence 540242 from Patent EP1572962.
JD136419 - Sequence 117443 from Patent EP1572962.
JD355266 - Sequence 336290 from Patent EP1572962.
JD337921 - Sequence 318945 from Patent EP1572962.
JD092810 - Sequence 73834 from Patent EP1572962.
JD348887 - Sequence 329911 from Patent EP1572962.
JD162033 - Sequence 143057 from Patent EP1572962.
JD172453 - Sequence 153477 from Patent EP1572962.
JD398055 - Sequence 379079 from Patent EP1572962.
JD418439 - Sequence 399463 from Patent EP1572962.
JD240024 - Sequence 221048 from Patent EP1572962.
JD230567 - Sequence 211591 from Patent EP1572962.
JD507953 - Sequence 488977 from Patent EP1572962.
MA620692 - JP 2018138019-A/192618: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92997 (Reactome details) participates in the following event(s):

R-HSA-201717 CSNK2-mediated phosphorylation of DVL
R-HSA-1504213 DVL is bound by the CUL3:KLHL12:RBX1 ubiquitin ligase complex
R-HSA-5368582 CXXC4 binds DVL to prevent AXIN binding
R-NUL-5368583 Cxxc4 binds DVL to prevent AXIN binding
R-NUL-5368587 DVL binds Ccdc88c
R-HSA-5368588 DVL binds CCDC88C
R-HSA-3772435 WNT signaling stimulates CSNK1-dependent phosphorylation of DVL
R-HSA-3858482 DVL is recruited to the receptor
R-HSA-1504188 FZD recruits DVL to the receptor complex
R-HSA-3772434 Phosphorylated DVL recruits PIP5K1B to the plasma membrane
R-HSA-3858475 ppDVL recruits RAC
R-HSA-3858489 ppDVL binds DAAM1
R-HSA-3858480 WNT-dependent phosphorylation of DVL
R-HSA-1504190 DVL is ubiquitinated by CUL3:KLHL12:RBX1
R-HSA-201691 Phosphorylation of LRP5/6 cytoplasmic domain by CSNKI
R-NUL-1458902 frog CK1gamma phosphorylates LRP5/6
R-HSA-201677 Phosphorylation of LRP5/6 cytoplasmic domain by membrane-associated GSK3beta
R-HSA-1504186 DVL recruits GSK3beta:AXIN1 to the receptor complex
R-HSA-3858495 DAAM1 recruits GTP-bound RHOA
R-HSA-3965450 DAAM1 recruits PFN1
R-HSA-3772436 DVL-associated PIP5K1B phosphorylates PI4P to PI(4,5)P2
R-HSA-201688 WNT mediated activation of DVL
R-HSA-4641258 Degradation of DVL
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins
R-HSA-4086400 PCP/CE pathway
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-195721 Signaling by WNT
R-HSA-195258 RHO GTPase Effectors
R-HSA-162582 Signal Transduction
R-HSA-194315 Signaling by Rho GTPases

-  Other Names for This Gene
  Alternate Gene Symbols: B4E3E5, D3DNT0, DVL3_HUMAN, ENST00000313143.1, ENST00000313143.2, ENST00000313143.3, ENST00000313143.4, ENST00000313143.5, ENST00000313143.6, ENST00000313143.7, ENST00000313143.8, KIAA0208, NM_004423, O14642, Q13531, Q8N5E9, Q92607, Q92997, uc317piw.1, uc317piw.2
UCSC ID: ENST00000313143.9_5
RefSeq Accession: NM_004423.4
Protein: Q92997 (aka DVL3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DVL3:
rob-ad (Autosomal Dominant Robinow Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.