Gene: Dvl2

Basic information

Tag Content
Uniprot ID Q60838; Q7TN14;
Entrez ID 13543
Genbank protein ID EDL12520.1; AAC52827.1; BAE40307.1; AAH53050.1; BAE35461.1; BAE27460.1;
Genbank nucleotide ID NM_007888.3
Ensembl protein ID ENSMUSP00000019362; ENSMUSP00000099635; ENSMUSP00000140073;
Ensembl nucleotide ID ENSMUSG00000020888
Gene name Segment polarity protein dishevelled homolog DVL-2
Gene symbol Dvl2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical 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.
Sequence
MAGSSAGGGG VGETKVIYHL DEEETPYLVK IPVPAERITL GDFKSVLQRP AGAKYFFKSM 60
DQDFGVVKEE ISDDNARLPC FNGRVVSWLV SSDTPQPEVA PPAHESRTEL VPPPPPLPPL 120
PPERTSGIGD SRPPSFHPNV SSSHENLEPE TETESVVSLR RDRPRRRDSS EHGAGGHRPG 180
GPSRLERHLA GYESSSTLMT SELESTSLGD SDEDDTMSRF SSSTEQSSAS RLLKRHRRRR 240
KQRPPRMERT SSFSSVTDST MSLNIITVTL NMEKYNFLGI SIVGQSNERG DGGIYIGSIM 300
KGGAVAADGR IEPGDMLLQV NDMNFENMSN DDAVRVLRDI VHKPGPIVLT VAKCWDPSPQ 360
AYFTLPRNEP IQPIDPAAWV SHSAALTGAF PAYPGSSSMS TITSGSSLPD GCEGRGLSVH 420
MDMASVTKAM AAPESGLEVR DRMWLKITIP NAFLGSDVVD WLYHHVEGFP ERREARKYAS 480
GLLKAGLIRH TVNKITFSEQ CYYVFGDLSG GCESYLVNLS LNDNDGSSGA SDQDTLAPLP 540
GATPWPLLPT FSYQYPAPHP YSPQPPPYHE LSSYTYGGGS ASSQHSEGSR SSGSTRSDGG 600
AGRTGRPEER APESKSGSGS ESELSSRGGS LRRGGEPGGT GDGGPPPSRG STGAPPNLRA 660
LPGLHPYGAP SGMALPYNPM MVVMMPPPPP PVSTAVQPPG APPVRDLGSV PPELTASRQS 720
FHMAMGNPSE FFVDVM 736

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologDVL2A0A452G485Capra hircusPredictionMore>>
1:1 orthologDVL21856O14641CL/PHomo sapiensPublicationMore>>
1:1 orthologDvl213543Q60838Mus musculusPredictionMore>>
1:1 orthologDVL2455236H2QC24Pan troglodytesPredictionMore>>
1:1 orthologDVL2A0A287AJQ6Sus scrofaPredictionMore>>
1:1 orthologDvl2303251D3ZB71Rattus norvegicusPredictionMore>>
1:1 orthologdvl2F1QM97Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
DVL2rs35594616; p.Gln554Gln PCR-RFLP22887353
DVL2rs222850*CGenotyping26602496

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005109 frizzled bindingISO
GO:0005109 frizzled bindingIPI
GO:0005109 frizzled bindingIBA
GO:0005515 protein bindingIPI
GO:0019901 protein kinase bindingIPI
GO:0019904 protein domain specific bindingIPI
GO:0030674 protein binding, bridgingIDA
GO:0042802 identical protein bindingISO
GO:0042802 identical protein bindingIPI
GO:0043621 protein self-associationIDA
GO:0048365 Rac GTPase bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0001843 neural tube closureIMP
GO:0001934 positive regulation of protein phosphorylationISO
GO:0003007 heart morphogenesisIGI
GO:0003151 outflow tract morphogenesisIMP
GO:0006366 transcription by RNA polymerase IIISO
GO:0007379 segment specificationIMP
GO:0007507 heart developmentIMP
GO:0022007 convergent extension involved in neural plate elongationIGI
GO:0022007 convergent extension involved in neural plate elongationIMP
GO:0034613 cellular protein localizationIDA
GO:0035282 segmentationIGI
GO:0035556 intracellular signal transductionIEA
GO:0035567 non-canonical Wnt signaling pathwayISO
GO:0043507 positive regulation of JUN kinase activityISO
GO:0043507 positive regulation of JUN kinase activityIDA
GO:0043547 positive regulation of GTPase activityIDA
GO:0044340 canonical Wnt signaling pathway involved in regulation of cell proliferationISO
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0051091 positive regulation of DNA-binding transcription factor activityISO
GO:0060029 convergent extension involved in organogenesisIGI
GO:0060070 canonical Wnt signaling pathwayISO
GO:0060070 canonical Wnt signaling pathwayIGI
GO:0060070 canonical Wnt signaling pathwayIMP
GO:0060070 canonical Wnt signaling pathwayIDA
GO:0060070 canonical Wnt signaling pathwayIBA
GO:0060071 Wnt signaling pathway, planar cell polarity pathwayISO
GO:0060071 Wnt signaling pathway, planar cell polarity pathwayIGI
GO:0061098 positive regulation of protein tyrosine kinase activityIGI
GO:0090103 cochlea morphogenesisIGI
GO:0090179 planar cell polarity pathway involved in neural tube closureIGI
GO:0090179 planar cell polarity pathway involved in neural tube closureIMP
GO:0090179 planar cell polarity pathway involved in neural tube closureIBA
GO:0150012 positive regulation of neuron projection arborizationIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIMP
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIDA
GO:0005829 cytosolIDA
GO:0005829 cytosolIBA
GO:0005856 cytoskeletonNAS
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneIGI
GO:0005938 cell cortexISO
GO:0016235 aggresomeISO
GO:0016328 lateral plasma membraneIDA
GO:0016604 nuclear bodyISO
GO:0030136 clathrin-coated vesicleIDA
GO:0031410 cytoplasmic vesicleISO
GO:0045177 apical part of cellIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-194315 Signaling by Rho GTPasesIEA
R-MMU-195258 RHO GTPase EffectorsIEA
R-MMU-195721 Signaling by WNTIEA
R-MMU-199991 Membrane TraffickingIEA
R-MMU-201681 TCF dependent signaling in response to WNTIEA
R-MMU-201688 WNT mediated activation of DVLIEA
R-MMU-2028269 Signaling by HippoIEA
R-MMU-3858494 Beta-catenin independent WNT signalingIEA
R-MMU-4086400 PCP/CE pathwayIEA
R-MMU-4608870 Asymmetric localization of PCP proteinsIEA
R-MMU-4641258 Degradation of DVLIEA
R-MMU-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membraneIEA
R-MMU-5099900 WNT5A-dependent internalization of FZD4IEA
R-MMU-5653656 Vesicle-mediated transportIEA
R-MMU-5663220 RHO GTPases Activate ForminsIEA
R-MMU-8856825 Cargo recognition for clathrin-mediated endocytosisIEA
R-MMU-8856828 Clathrin-mediated endocytosisIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-1003 Cell membrane
KW-0963 Cytoplasm
KW-0968 Cytoplasmic vesicle
KW-0217 Developmental protein
KW-0472 Membrane
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0879 Wnt signaling pathway

Interpro

InterPro ID InterPro Term
IPR000591 DEP_dom
IPR024580 Dishevelled_C-dom
IPR008339 Dishevelled_fam
IPR003351 Dishevelled_protein_dom
IPR001158 DIX
IPR038207 DIX_dom_sf
IPR015506 Dsh/Dvl-rel
IPR008341 DVL2
IPR001478 PDZ
IPR036034 PDZ_sf
IPR029071 Ubiquitin-like_domsf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS50186 DEP
PS50841 DIX
PS50106 PDZ

Pfam

Pfam ID Pfam Term
PF00610 DEP
PF02377 Dishevelled
PF00778 DIX
PF12316 Dsh_C
PF00595 PDZ

Protein-protein interaction

Protein-miRNA interaction