Human Gene DVL2 (ENST00000005340.10_7) from GENCODE V47lift37
  Description: dishevelled segment polarity protein 2 (from RefSeq NM_004422.3)
Gencode Transcript: ENST00000005340.10_7
Gencode Gene: ENSG00000004975.12_14
Transcript (Including UTRs)
   Position: hg19 chr17:7,128,661-7,137,836 Size: 9,176 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr17:7,129,184-7,137,581 Size: 8,398 Coding Exon Count: 15 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:7,128,661-7,137,836)mRNA (may differ from genome)Protein (736 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DVL2_HUMAN
DESCRIPTION: RecName: Full=Segment polarity protein dishevelled homolog DVL-2; Short=Dishevelled-2; AltName: Full=DSH homolog 2;
FUNCTION: Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes (By similarity).
SUBUNIT: Interacts through its PDZ domain with the C-terminal regions of VANGL1 and VANGL2. Interacts with Rac. Interacts with ARRB1; the interaction is enhanced by phosphorylation of DVL1 (By similarity). Can form large oligomers (via DIX domain). Interacts (via DIX domain) with DIXDC1 (via DIX domain). Interacts (via DEP domain) with AP2M1 and the AP-2 complex (By similarity). Interacts with DACT1.
INTERACTION: Self; NbExp=2; IntAct=EBI-740850, EBI-740850; Q9NYF0:DACT1; NbExp=6; IntAct=EBI-740850, EBI-3951744; Q9Z101:Pard6a (xeno); NbExp=6; IntAct=EBI-740850, EBI-81732; A2A5Z6:Smurf2 (xeno); NbExp=8; IntAct=EBI-740850, EBI-2348309; Q14134:TRIM29; NbExp=5; IntAct=EBI-740850, EBI-702370; P49910:ZNF165; NbExp=2; IntAct=EBI-740850, EBI-741694;
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytosol (By similarity). Cytoplasmic vesicle (By similarity). Note=Localizes at the cell membrane upon interaction with frizzled family members and promotes their internalization. Localizes to cytoplasmic puncta (By similarity).
DOMAIN: The DIX domain mediates homooligomerization (By similarity).
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.

-  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: DVL2
Diseases sorted by gene-association score: alk-positive anaplastic large cell lymphoma (7), neural tube defects (2), conotruncal heart malformations (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 26.44 RPKM in Ovary
Total median expression: 681.54 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 -131.80255-0.517 Picture PostScript Text
3' UTR -182.80523-0.350 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
IPR008341 - Dishevelled_2
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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2REY - X-ray MuPIT 3CBX - X-ray MuPIT 3CBY - X-ray MuPIT 3CBZ - X-ray MuPIT 3CC0 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O14641
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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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005109 frizzled binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0030674 protein binding, bridging
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0048365 Rac GTPase binding

Biological Process:
GO:0001843 neural tube closure
GO:0001934 positive regulation of protein phosphorylation
GO:0003007 heart morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007379 segment specification
GO:0007507 heart development
GO:0016055 Wnt signaling pathway
GO:0022007 convergent extension involved in neural plate elongation
GO:0034613 cellular protein localization
GO:0035282 segmentation
GO:0035329 hippo signaling
GO:0035556 intracellular signal transduction
GO:0035567 non-canonical Wnt signaling pathway
GO:0043507 positive regulation of JUN kinase activity
GO:0043547 positive regulation of GTPase activity
GO:0044340 canonical Wnt signaling pathway involved in regulation of cell proliferation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051259 protein oligomerization
GO:0060029 convergent extension involved in organogenesis
GO:0060070 canonical Wnt signaling pathway
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0061024 membrane organization
GO:0061098 positive regulation of protein tyrosine kinase activity
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090103 cochlea morphogenesis
GO:0090179 planar cell polarity pathway involved in neural tube closure
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1904886 beta-catenin destruction complex disassembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016235 aggresome
GO:0016328 lateral plasma membrane
GO:0016604 nuclear body
GO:0030136 clathrin-coated vesicle
GO:0031410 cytoplasmic vesicle
GO:0045177 apical part of cell
GO:0045334 clathrin-coated endocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  LF209159 - JP 2014500723-A/16662: Polycomb-Associated Non-Coding RNAs.
AK304229 - Homo sapiens cDNA FLJ61066 complete cds, highly similar to Segment polarity protein dishevelled homolog DVL-2.
AK026019 - Homo sapiens cDNA: FLJ22366 fis, clone HRC06626, highly similar to AF006012 Homo sapiens dishevelled 2 (DVL2) mRNA.
BC014844 - Homo sapiens dishevelled, dsh homolog 2 (Drosophila), mRNA (cDNA clone MGC:9545 IMAGE:3852554), complete cds.
LF326477 - JP 2014500723-A/133980: Polycomb-Associated Non-Coding RNAs.
AK297099 - Homo sapiens cDNA FLJ50985 complete cds, highly similar to Segment polarity protein dishevelled homologDVL-2.
LF326476 - JP 2014500723-A/133979: Polycomb-Associated Non-Coding RNAs.
LF326475 - JP 2014500723-A/133978: Polycomb-Associated Non-Coding RNAs.
AF006012 - Homo sapiens dishevelled 2 (DVL2) mRNA, complete cds.
JD184239 - Sequence 165263 from Patent EP1572962.
JD385573 - Sequence 366597 from Patent EP1572962.
JD051739 - Sequence 32763 from Patent EP1572962.
JD396473 - Sequence 377497 from Patent EP1572962.
JD211011 - Sequence 192035 from Patent EP1572962.
JD244026 - Sequence 225050 from Patent EP1572962.
JD183176 - Sequence 164200 from Patent EP1572962.
JF432818 - Synthetic construct Homo sapiens clone IMAGE:100074136 dishevelled, dsh homolog 2 (Drosophila) (DVL2) gene, encodes complete protein.
KJ891076 - Synthetic construct Homo sapiens clone ccsbBroadEn_00470 DVL2 gene, encodes complete protein.
BT009822 - Homo sapiens dishevelled, dsh homolog 2 (Drosophila) mRNA, complete cds.
AK312829 - Homo sapiens cDNA, FLJ93266.
AB527783 - Synthetic construct DNA, clone: pF1KB5736, Homo sapiens DVL2 gene for dishevelled, dsh homolog 2, without stop codon, in Flexi system.
LF326474 - JP 2014500723-A/133977: Polycomb-Associated Non-Coding RNAs.
AK297285 - Homo sapiens cDNA FLJ57324 complete cds, highly similar to Segment polarity protein dishevelled homolog DVL-2.
AK309771 - Homo sapiens cDNA, FLJ99812.
CU677097 - Synthetic construct Homo sapiens gateway clone IMAGE:100020047 5' read DVL2 mRNA.
LF326473 - JP 2014500723-A/133976: Polycomb-Associated Non-Coding RNAs.
LF326471 - JP 2014500723-A/133974: Polycomb-Associated Non-Coding RNAs.
MA562054 - JP 2018138019-A/133980: Polycomb-Associated Non-Coding RNAs.
MA562053 - JP 2018138019-A/133979: Polycomb-Associated Non-Coding RNAs.
MA562052 - JP 2018138019-A/133978: Polycomb-Associated Non-Coding RNAs.
MA562051 - JP 2018138019-A/133977: Polycomb-Associated Non-Coding RNAs.
MA562050 - JP 2018138019-A/133976: Polycomb-Associated Non-Coding RNAs.
MA562048 - JP 2018138019-A/133974: Polycomb-Associated Non-Coding RNAs.
MA444736 - JP 2018138019-A/16662: Polycomb-Associated Non-Coding RNAs.

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

Protein O14641 (Reactome details) participates in the following event(s):

R-HSA-2066299 DVL2 binds phosphorylated WWTR1 (TAZ)
R-HSA-4641147 DACT1 binds DVL2
R-HSA-5138441 WNT5A-FZD4 recruits DVL2
R-NUL-350365 Dvl2 binds to Rac1:GTP
R-NUL-350485 RhoA:GTP binds to activated Daam1
R-NUL-350375 Dvl2 binds to Daam1
R-HSA-5138432 DVL2 is phosphorylated by PKC
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-4608825 DVL2 is phosphorylated after WNT5A binding to FZD
R-HSA-5138433 p-DVL2 recruits AP-2 and beta-arrestin 2 to promote clathrin-mediated endocytosis
R-HSA-3772435 WNT signaling stimulates CSNK1-dependent phosphorylation of DVL
R-HSA-3858482 DVL is recruited to the receptor
R-HSA-4608854 SMURF1/2 are recruited to the DVL2:PARD6A complex
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-8866269 ARRB bind GPCRs
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-8866283 ARBB recruits GPCRs into clathrin-coated pits
R-HSA-4608852 SMURF1/2 ubiquitinates PRICKLE1
R-HSA-3772436 DVL-associated PIP5K1B phosphorylates PI4P to PI(4,5)P2
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-2028269 Signaling by Hippo
R-HSA-4641258 Degradation of DVL
R-HSA-5099900 WNT5A-dependent internalization of FZD4
R-HSA-201688 WNT mediated activation of DVL
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins
R-HSA-162582 Signal Transduction
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-4086400 PCP/CE pathway
R-HSA-4608870 Asymmetric localization of PCP proteins
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-195721 Signaling by WNT
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-195258 RHO GTPase Effectors
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-194315 Signaling by Rho GTPases
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: D3DTN3, DVL2_HUMAN, ENST00000005340.1, ENST00000005340.2, ENST00000005340.3, ENST00000005340.4, ENST00000005340.5, ENST00000005340.6, ENST00000005340.7, ENST00000005340.8, ENST00000005340.9, NM_004422, O14641, Q53XM0, uc317bvt.1, uc317bvt.2
UCSC ID: ENST00000005340.10_7
RefSeq Accession: NM_004422.3
Protein: O14641 (aka DVL2_HUMAN)

-  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.