CleftGeneDB-Search

Gene: Wnt5a

Basic information

Tag	Content
Uniprot ID	P22725; Q8BM17; Q8BMF9; Q8VCV6;
Entrez ID	22418
Genbank protein ID	BAC27430.1; BAC29593.1; BAC27468.1; AAH18425.1; AAA40567.1;
Genbank nucleotide ID	NM_009524.3; NM_001256224.1; XM_006518924.2; XM_006518925.3;
Ensembl protein ID	ENSMUSP00000107891; ENSMUSP00000064878;
Ensembl nucleotide ID	ENSMUSG00000021994
Gene name	Protein Wnt-5a
Gene symbol	Wnt5a
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage	E14.5
Data sources	Manually collected
Reference	18948417; 25807483;
Functional description	Ligand for members of the frizzled family of seven transmembrane receptors (PubMed:17117926). Can activate or inhibit canonical Wnt signaling, depending on receptor context (PubMed:16602827). In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (PubMed:16602827). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration (PubMed:17117926). Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor. Mediates motility of melanoma cells (By similarity). Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle (PubMed:10021340). Inhibits type II collagen expression in chondrocytes (By similarity).
Sequence	MKKPIGILSP GVALGTAGGA MSSKFFLMAL ATFFSFAQVV IEANSWWSLG MNNPVQMSEV 60 YIIGAQPLCS QLAGLSQGQK KLCHLYQDHM QYIGEGAKTG IKECQYQFRH RRWNCSTVDN 120 TSVFGRVMQI GSRETAFTYA VSAAGVVNAM SRACREGELS TCGCSRAARP KDLPRDWLWG 180 GCGDNIDYGY RFAKEFVDAR ERERIHAKGS YESARILMNL HNNEAGRRTV YNLADVACKC 240 HGVSGSCSLK TCWLQLADFR KVGDALKEKY DSAAAMRLNS RGKLVQVNSR FNSPTTQDLV 300 YIDPSPDYCV RNESTGSLGT QGRLCNKTSE GMDGCELMCC GRGYDQFKTV QTERCHCKFH 360 WCCYVKCKKC TEIVDQFVCK

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 during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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 ortholog	WNT5A	530005	E1BDG5			Bos taurus	Prediction	More>>
1:1 ortholog	WNT5A	484721	J9P5H0			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WNT5A	102170921	A0A452EUB6			Capra hircus	Prediction	More>>
1:1 ortholog	WNT5A	7474	P41221			Homo sapiens	Publication	More>>
1:1 ortholog	Wnt5a	22418	P22725	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	WNT5A	100627056	A0A287A1J0			Sus scrofa	Prediction	More>>
1:1 ortholog	Wnt5a	64566	F2Z3U1			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
WNT5A	rs566926	Genotyping; PDT; and APL	18413325

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs219767849	p.His206Tyr	missense variant	-	NC_000080.6:g.28518510C>T	UniProt
rs16808124	p.Arg277Lys	missense variant	-	NC_000080.6:g.28522627G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0003700	DNA-binding transcription factor activity	ISO
GO:0005102	signaling receptor binding	IPI
GO:0005102	signaling receptor binding	TAS
GO:0005109	frizzled binding	ISO
GO:0005109	frizzled binding	IPI
GO:0005109	frizzled binding	IDA
GO:0005109	frizzled binding	IBA
GO:0005115	receptor tyrosine kinase-like orphan receptor binding	ISO
GO:0005125	cytokine activity	IDA
GO:0005515	protein binding	IPI
GO:0019904	protein domain specific binding	IPI
GO:0044212	transcription regulatory region DNA binding	ISO
GO:1902379	chemoattractant activity involved in axon guidance	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000187	activation of MAPK activity	ISO
GO:0001667	ameboidal-type cell migration	IMP
GO:0001736	establishment of planar polarity	IMP
GO:0001756	somitogenesis	IGI
GO:0001819	positive regulation of cytokine production	IDA
GO:0001843	neural tube closure	IGI
GO:0001934	positive regulation of protein phosphorylation	IDA
GO:0001938	positive regulation of endothelial cell proliferation	ISO
GO:0001947	heart looping	IGI
GO:0002009	morphogenesis of an epithelium	IMP
GO:0002053	positive regulation of mesenchymal cell proliferation	IMP
GO:0002741	positive regulation of cytokine secretion involved in immune response	ISO
GO:0003138	primary heart field specification	IGI
GO:0003139	secondary heart field specification	IGI
GO:0003281	ventricular septum development	IGI
GO:0003283	atrial septum development	IGI
GO:0003323	type B pancreatic cell development	IMP
GO:0003344	pericardium morphogenesis	IGI
GO:0003401	axis elongation	IMP
GO:0003402	planar cell polarity pathway involved in axis elongation	IGI
GO:0003402	planar cell polarity pathway involved in axis elongation	IMP
GO:0006468	protein phosphorylation	IGI
GO:0007165	signal transduction	TAS
GO:0007223	Wnt signaling pathway, calcium modulating pathway	ISO
GO:0007223	Wnt signaling pathway, calcium modulating pathway	IMP
GO:0007223	Wnt signaling pathway, calcium modulating pathway	IDA
GO:0007254	JNK cascade	IDA
GO:0007257	activation of JUN kinase activity	ISO
GO:0007267	cell-cell signaling	TAS
GO:0007368	determination of left/right symmetry	IMP
GO:0007409	axonogenesis	IDA
GO:0007411	axon guidance	IDA
GO:0007413	axonal fasciculation	TAS
GO:0007442	hindgut morphogenesis	IMP
GO:0007494	midgut development	IMP
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0008584	male gonad development	IMP
GO:0008595	anterior/posterior axis specification, embryo	IDA
GO:0009887	animal organ morphogenesis	TAS
GO:0009952	anterior/posterior pattern specification	IMP
GO:0010595	positive regulation of endothelial cell migration	ISO
GO:0010628	positive regulation of gene expression	IMP
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IGI
GO:0010820	positive regulation of T cell chemotaxis	ISO
GO:0010976	positive regulation of neuron projection development	IDA
GO:0016055	Wnt signaling pathway	ISO
GO:0016055	Wnt signaling pathway	IGI
GO:0016055	Wnt signaling pathway	IBA
GO:0016477	cell migration	IMP
GO:0016477	cell migration	IGI
GO:0021891	olfactory bulb interneuron development	IMP
GO:0021915	neural tube development	IGI
GO:0022008	neurogenesis	IDA
GO:0022409	positive regulation of cell-cell adhesion	ISO
GO:0030182	neuron differentiation	IBA
GO:0030216	keratinocyte differentiation	IEA
GO:0030324	lung development	IMP
GO:0030326	embryonic limb morphogenesis	IMP
GO:0030514	negative regulation of BMP signaling pathway	IMP
GO:0030901	midbrain development	IDA
GO:0030901	midbrain development	IGI
GO:0032092	positive regulation of protein binding	IDA
GO:0032148	activation of protein kinase B activity	ISO
GO:0032729	positive regulation of interferon-gamma production	IMP
GO:0032755	positive regulation of interleukin-6 production	ISO
GO:0032755	positive regulation of interleukin-6 production	IDA
GO:0032880	regulation of protein localization	IDA
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IGI
GO:0034613	cellular protein localization	ISO
GO:0034613	cellular protein localization	IMP
GO:0035108	limb morphogenesis	IMP
GO:0035567	non-canonical Wnt signaling pathway	IDA
GO:0036342	post-anal tail morphogenesis	IGI
GO:0036342	post-anal tail morphogenesis	IMP
GO:0036517	chemoattraction of serotonergic neuron axon	IDA
GO:0036518	chemorepulsion of dopaminergic neuron axon	IDA
GO:0038031	non-canonical Wnt signaling pathway via JNK cascade	IMP
GO:0040037	negative regulation of fibroblast growth factor receptor signaling pathway	IMP
GO:0042060	wound healing	ISO
GO:0042472	inner ear morphogenesis	IDA
GO:0042472	inner ear morphogenesis	IMP
GO:0042733	embryonic digit morphogenesis	IMP
GO:0043032	positive regulation of macrophage activation	ISO
GO:0043066	negative regulation of apoptotic process	ISO
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IMP
GO:0043507	positive regulation of JUN kinase activity	IDA
GO:0043507	positive regulation of JUN kinase activity	IMP
GO:0043547	positive regulation of GTPase activity	IDA
GO:0045080	positive regulation of chemokine biosynthetic process	ISO
GO:0045165	cell fate commitment	IBA
GO:0045198	establishment of epithelial cell apical/basal polarity	IGI
GO:0045599	negative regulation of fat cell differentiation	ISO
GO:0045732	positive regulation of protein catabolic process	ISO
GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	ISO
GO:0045766	positive regulation of angiogenesis	ISO
GO:0045778	positive regulation of ossification	ISO
GO:0045807	positive regulation of endocytosis	IDA
GO:0045836	positive regulation of meiotic nuclear division	IGI
GO:0045860	positive regulation of protein kinase activity	IDA
GO:0045892	negative regulation of transcription, DNA-templated	ISO
GO:0045893	positive regulation of transcription, DNA-templated	ISO
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0046330	positive regulation of JNK cascade	IMP
GO:0046546	development of primary male sexual characteristics	IMP
GO:0048022	negative regulation of melanin biosynthetic process	IDA
GO:0048146	positive regulation of fibroblast proliferation	ISO
GO:0048341	paraxial mesoderm formation	IGI
GO:0048546	digestive tract morphogenesis	IMP
GO:0048570	notochord morphogenesis	IGI
GO:0048706	embryonic skeletal system development	ISO
GO:0048806	genitalia development	ISO
GO:0048812	neuron projection morphogenesis	IDA
GO:0048843	negative regulation of axon extension involved in axon guidance	IGI
GO:0048850	hypophysis morphogenesis	IMP
GO:0050679	positive regulation of epithelial cell proliferation	IMP
GO:0050680	negative regulation of epithelial cell proliferation	IDA
GO:0050680	negative regulation of epithelial cell proliferation	IMP
GO:0050718	positive regulation of interleukin-1 beta secretion	ISO
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA
GO:0050718	positive regulation of interleukin-1 beta secretion	IGI
GO:0050718	positive regulation of interleukin-1 beta secretion	IMP
GO:0050729	positive regulation of inflammatory response	ISO
GO:0050807	regulation of synapse organization	ISO
GO:0050919	negative chemotaxis	IGI
GO:0051092	positive regulation of NF-kappaB transcription factor activity	ISO
GO:0051216	cartilage development	IEA
GO:0051885	positive regulation of timing of anagen	IDA
GO:0051964	negative regulation of synapse assembly	IDA
GO:0060026	convergent extension	IMP
GO:0060028	convergent extension involved in axis elongation	IGI
GO:0060028	convergent extension involved in axis elongation	IMP
GO:0060029	convergent extension involved in organogenesis	IGI
GO:0060065	uterus development	IMP
GO:0060067	cervix development	IMP
GO:0060068	vagina development	IMP
GO:0060070	canonical Wnt signaling pathway	IGI
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0060070	canonical Wnt signaling pathway	IMP
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	ISO
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IGI
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IMP
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IDA
GO:0060157	urinary bladder development	IMP
GO:0060324	face development	ISO
GO:0060340	positive regulation of type I interferon-mediated signaling pathway	ISO
GO:0060599	lateral sprouting involved in mammary gland duct morphogenesis	IDA
GO:0060606	tube closure	IMP
GO:0060638	mesenchymal-epithelial cell signaling	IMP
GO:0060686	negative regulation of prostatic bud formation	IMP
GO:0060744	mammary gland branching involved in thelarche	IDA
GO:0060750	epithelial cell proliferation involved in mammary gland duct elongation	IDA
GO:0060760	positive regulation of response to cytokine stimulus	ISO
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	IDA
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	IGI
GO:0060775	planar cell polarity pathway involved in gastrula mediolateral intercalation	IGI
GO:0060809	mesodermal to mesenchymal transition involved in gastrulation	IGI
GO:0060907	positive regulation of macrophage cytokine production	ISO
GO:0061036	positive regulation of cartilage development	IDA
GO:0061036	positive regulation of cartilage development	IMP
GO:0061053	somite development	IGI
GO:0061347	planar cell polarity pathway involved in outflow tract morphogenesis	IMP
GO:0061348	planar cell polarity pathway involved in ventricular septum morphogenesis	IMP
GO:0061349	planar cell polarity pathway involved in cardiac right atrium morphogenesis	IMP
GO:0061350	planar cell polarity pathway involved in cardiac muscle tissue morphogenesis	IMP
GO:0061354	planar cell polarity pathway involved in pericardium morphogenesis	IMP
GO:0062009	secondary palate development	ISO
GO:0070245	positive regulation of thymocyte apoptotic process	IMP
GO:0071219	cellular response to molecule of bacterial origin	IDA
GO:0071222	cellular response to lipopolysaccharide	IEA
GO:0071277	cellular response to calcium ion	IEA
GO:0071346	cellular response to interferon-gamma	IEA
GO:0071425	hematopoietic stem cell proliferation	ISO
GO:0071425	hematopoietic stem cell proliferation	IDA
GO:0071425	hematopoietic stem cell proliferation	IMP
GO:0071542	dopaminergic neuron differentiation	IGI
GO:0071542	dopaminergic neuron differentiation	IMP
GO:0071542	dopaminergic neuron differentiation	IDA
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA
GO:0072201	negative regulation of mesenchymal cell proliferation	ISO
GO:0090009	primitive streak formation	IGI
GO:0090037	positive regulation of protein kinase C signaling	ISO
GO:0090082	positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway	IGI
GO:0090090	negative regulation of canonical Wnt signaling pathway	ISO
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA
GO:0090103	cochlea morphogenesis	IGI
GO:0090103	cochlea morphogenesis	IMP
GO:0090179	planar cell polarity pathway involved in neural tube closure	IMP
GO:0090630	activation of GTPase activity	IDA
GO:0097325	melanocyte proliferation	IDA
GO:0099175	regulation of postsynapse organization	ISO
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	ISO
GO:0150012	positive regulation of neuron projection arborization	ISO
GO:0150012	positive regulation of neuron projection arborization	IGI
GO:1900020	positive regulation of protein kinase C activity	ISO
GO:1901216	positive regulation of neuron death	IDA
GO:1903827	regulation of cellular protein localization	IDA
GO:1904469	positive regulation of tumor necrosis factor secretion	IGI
GO:1904469	positive regulation of tumor necrosis factor secretion	IMP
GO:1904934	negative regulation of cell proliferation in midbrain	IMP
GO:1904938	planar cell polarity pathway involved in axon guidance	IMP
GO:1904938	planar cell polarity pathway involved in axon guidance	IDA
GO:1904948	midbrain dopaminergic neuron differentiation	IDA
GO:1904948	midbrain dopaminergic neuron differentiation	IMP
GO:1904948	midbrain dopaminergic neuron differentiation	IGI
GO:1904953	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	IDA
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	IDA
GO:2000052	positive regulation of non-canonical Wnt signaling pathway	IDA
GO:2000484	positive regulation of interleukin-8 secretion	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	IBA
GO:0005737	cytoplasm	ISO
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0009986	cell surface	IDA
GO:0031012	extracellular matrix	IDA
GO:0098794	postsynapse	IEA
GO:0098978	glutamatergic synapse	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-162582	Signal Transduction	IEA
R-MMU-195721	Signaling by WNT	IEA
R-MMU-199991	Membrane Trafficking	IEA
R-MMU-201681	TCF dependent signaling in response to WNT	IEA
R-MMU-3238698	WNT ligand biogenesis and trafficking	IEA
R-MMU-3858494	Beta-catenin independent WNT signaling	IEA
R-MMU-4086398	Ca2+ pathway	IEA
R-MMU-4086400	PCP/CE pathway	IEA
R-MMU-4608870	Asymmetric localization of PCP proteins	IEA
R-MMU-5099900	WNT5A-dependent internalization of FZD4	IEA
R-MMU-5140745	WNT5A-dependent internalization of FZD2, FZD5 and ROR2	IEA
R-MMU-5653656	Vesicle-mediated transport	IEA
R-MMU-8856825	Cargo recognition for clathrin-mediated endocytosis	IEA
R-MMU-8856828	Clathrin-mediated endocytosis	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0891	Chondrogenesis
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0903	Direct protein sequencing
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
IPR026538	Wnt5a
IPR043158	Wnt_C
IPR018161	Wnt_CS

PROSITE

PROSITE ID	PROSITE Term
PS00246	WNT1

Pfam

Pfam ID	Pfam Term
PF00110	wnt

Gene: Wnt5a

Basic information

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction