Gene: WNT3A

Basic information

Tag Content
Uniprot ID P56704; Q3SY79; Q3SY80; Q969P2;
Entrez ID 89780
Genbank protein ID AAI03924.1; BAB61052.1; AAI03923.1; AAI03922.1; BAB71136.1;
Genbank nucleotide ID NM_033131.3
Ensembl protein ID ENSP00000284523
Ensembl nucleotide ID ENSG00000154342
Gene name Protein Wnt-3a
Gene symbol WNT3A
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 18413325
Functional description Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20093360, PubMed:21244856, PubMed:24841207, PubMed:26902720). Required for normal embryonic mesoderm development and formation of caudal somites. Required for normal morphogenesis of the developing neural tube (By similarity). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro) (PubMed:26902720).
Sequence
MAPLGYFLLL CSLKQALGSY PIWWSLAVGP QYSSLGSQPI LCASIPGLVP KQLRFCRNYV 60
EIMPSVAEGI KIGIQECQHQ FRGRRWNCTT VHDSLAIFGP VLDKATRESA FVHAIASAGV 120
AFAVTRSCAE GTAAICGCSS RHQGSPGKGW KWGGCSEDIE FGGMVSREFA DARENRPDAR 180
SAMNRHNNEA GRQAIASHMH LKCKCHGLSG SCEVKTCWWS QPDFRAIGDF LKDKYDSASE 240
MVVEKHRESR GWVETLRPRY TYFKVPTERD LVYYEASPNF CEPNPETGSF GTRDRTCNVS 300
SHGIDGCDLL CCGRGHNARA ERRREKCRCV FHWCCYVSCQ ECTRVYDVHT CK 352

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.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologWNT3AA0A452ETX2Capra hircusPredictionMore>>
1:1 orthologWNT3A89780P56704Homo sapiensPublicationMore>>
1:1 orthologWnt3a22416P27467CPOE14.5Mus musculusPublicationMore>>
1:1 orthologWNT3A100615247H2R817Pan troglodytesPredictionMore>>
1:1 ortholog100514950A0A480RFN3Sus scrofaPredictionMore>>
1:1 orthologWNT3A100354583G1SKY6Oryctolagus cuniculusPredictionMore>>
1:1 orthologWnt3a303181F1M077Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
WNT3Ars1745420Genotyping; PDT; and APL18413325

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003713 transcription coactivator activityIEA
GO:0005102 signaling receptor bindingIPI
GO:0005109 frizzled bindingIBA
GO:0005515 protein bindingIPI
GO:0019904 protein domain specific bindingIEA
GO:0039706 co-receptor bindingIPI
GO:0048018 receptor ligand activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0001649 osteoblast differentiationIEA
GO:0001701 in utero embryonic developmentIEA
GO:0001819 positive regulation of cytokine productionIEA
GO:0001934 positive regulation of protein phosphorylationIDA
GO:0001947 heart loopingIEA
GO:0002092 positive regulation of receptor internalizationIDA
GO:0003136 negative regulation of heart induction by canonical Wnt signaling pathwayIDA
GO:0007411 axon guidanceIEA
GO:0008283 cell population proliferationIMP
GO:0008284 positive regulation of cell population proliferationISS
GO:0010387 COP9 signalosome assemblyISS
GO:0010628 positive regulation of gene expressionIDA
GO:0010977 negative regulation of neuron projection developmentISS
GO:0016055 Wnt signaling pathwayIBA
GO:0016055 Wnt signaling pathwayTAS
GO:0021527 spinal cord association neuron differentiationIEA
GO:0021766 hippocampus developmentIEA
GO:0021846 cell proliferation in forebrainISS
GO:0021874 Wnt signaling pathway involved in forebrain neuroblast divisionIEA
GO:0021904 dorsal/ventral neural tube patterningIEA
GO:0030097 hemopoiesisIEA
GO:0030182 neuron differentiationISS
GO:0030182 neuron differentiationIBA
GO:0030198 extracellular matrix organizationIEA
GO:0030879 mammary gland developmentIEA
GO:0030890 positive regulation of B cell proliferationIEA
GO:0032092 positive regulation of protein bindingIDA
GO:0033138 positive regulation of peptidyl-serine phosphorylationIDA
GO:0033278 cell proliferation in midbrainTAS
GO:0034613 cellular protein localizationIEA
GO:0035914 skeletal muscle cell differentiationIEA
GO:0036342 post-anal tail morphogenesisIEA
GO:0036465 synaptic vesicle recyclingTAS
GO:0042472 inner ear morphogenesisIEA
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic processIEA
GO:0045165 cell fate commitmentIBA
GO:0045599 negative regulation of fat cell differentiationIEA
GO:0045893 positive regulation of transcription, DNA-templatedISS
GO:0045944 positive regulation of transcription by RNA polymerase IIISS
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0048337 positive regulation of mesodermal cell fate specificationIDA
GO:0048343 paraxial mesodermal cell fate commitmentIEA
GO:0048643 positive regulation of skeletal muscle tissue developmentIEA
GO:0048697 positive regulation of collateral sprouting in absence of injuryIEA
GO:0048843 negative regulation of axon extension involved in axon guidanceIEA
GO:0050768 negative regulation of neurogenesisISS
GO:0050804 modulation of chemical synaptic transmissionIEA
GO:0050807 regulation of synapse organizationIDA
GO:0050807 regulation of synapse organizationIMP
GO:0051091 positive regulation of DNA-binding transcription factor activityIEA
GO:0060070 canonical Wnt signaling pathwayIDA
GO:0060070 canonical Wnt signaling pathwayIMP
GO:0061098 positive regulation of protein tyrosine kinase activityIEA
GO:0061184 positive regulation of dermatome developmentIDA
GO:0061317 canonical Wnt signaling pathway involved in cardiac muscle cell fate commitmentIDA
GO:0062009 secondary palate developmentIMP
GO:0070507 regulation of microtubule cytoskeleton organizationIEA
GO:0070527 platelet aggregationIEA
GO:0071300 cellular response to retinoic acidISS
GO:0090245 axis elongation involved in somitogenesisIEA
GO:0090263 positive regulation of canonical Wnt signaling pathwayIDA
GO:0090676 calcium ion transmembrane transport via low voltage-gated calcium channelIEA
GO:0099054 presynapse assemblyTAS
GO:0099527 postsynapse to nucleus signaling pathwayIEA
GO:1901215 negative regulation of neuron deathIEA
GO:1903078 positive regulation of protein localization to plasma membraneIEA
GO:1904339 negative regulation of dopaminergic neuron differentiationIEA
GO:1904798 positive regulation of core promoter bindingIEA
GO:1904886 beta-catenin destruction complex disassemblyTAS
GO:1904953 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationTAS
GO:1905606 regulation of presynapse assemblyIDA
GO:1905606 regulation of presynapse assemblyIMP
GO:2000049 positive regulation of cell-cell adhesion mediated by cadherinIEA
GO:2000081 positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferationIEA
GO:2000179 positive regulation of neural precursor cell proliferationIEA
GO:2000347 positive regulation of hepatocyte proliferationIEA
GO:2000727 positive regulation of cardiac muscle cell differentiationIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceISS
GO:0005615 extracellular spaceIBA
GO:0005615 extracellular spaceIDA
GO:0005788 endoplasmic reticulum lumenTAS
GO:0005796 Golgi lumenTAS
GO:0005886 plasma membraneTAS
GO:0009986 cell surfaceISS
GO:0030666 endocytic vesicle membraneTAS
GO:0031901 early endosome membraneTAS
GO:0070062 extracellular exosomeTAS
GO:0098793 presynapseIEA
GO:0098978 glutamatergic synapseIDA
GO:0098978 glutamatergic synapseIMP
GO:1990851 Wnt-Frizzled-LRP5/6 complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-162582 Signal TransductionTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-1643685 DiseaseTAS
R-HSA-195721 Signaling by WNTTAS
R-HSA-195721 Signaling by WNTIEA
R-HSA-201681 TCF dependent signaling in response to WNTTAS
R-HSA-201681 TCF dependent signaling in response to WNTIEA
R-HSA-3238698 WNT ligand biogenesis and traffickingTAS
R-HSA-3238698 WNT ligand biogenesis and traffickingIEA
R-HSA-372790 Signaling by GPCRIEA
R-HSA-373080 Class B/2 (Secretin family receptors)IEA
R-HSA-3772470 Negative regulation of TCF-dependent signaling by WNT ligand antagonistsIEA
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membraneTAS
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membraneIEA
R-HSA-4641263 Regulation of FZD by ubiquitinationTAS
R-HSA-4791275 Signaling by WNT in cancerTAS
R-HSA-500792 GPCR ligand bindingIEA
R-HSA-5340588 RNF mutants show enhanced WNT signaling and proliferationTAS
R-HSA-5663202 Diseases of signal transductionTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-1015 Disulfide bond
KW-0272 Extracellular matrix
KW-0325 Glycoprotein
KW-0449 Lipoprotein
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0879 Wnt signaling pathway

Interpro

InterPro ID InterPro Term
IPR005817 Wnt
IPR009141 Wnt3
IPR043158 Wnt_C
IPR018161 Wnt_CS

PROSITE

PROSITE ID PROSITE Term
PS00246 WNT1

Pfam

Pfam ID Pfam Term
PF00110 wnt

Protein-protein interaction

Protein-miRNA interaction