CleftGeneDB-Search

Gene: Nodal

Basic information

Tag	Content
Uniprot ID	P43021; Q8BH87;
Entrez ID	18119
Genbank protein ID	EDL32144.1; BAC33661.1; BAC38637.1; CAA49914.1;
Genbank nucleotide ID	NM_013611.5
Ensembl protein ID	ENSMUSP00000039653
Ensembl nucleotide ID	ENSMUSG00000037171
Gene name	Nodal
Gene symbol	Nodal
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CLO
Developmental stage
Data sources	Manually collected
Reference	16564040
Functional description	Essential for mesoderm formation and axial patterning during embryonic development.
Sequence	MSAHSLRILL LQACWALLHP RAPTAAALPL WTRGQPSSPS PLAYMLSLYR DPLPRADIIR 60 SLQAQDVDVT GQNWTFTFDF SFLSQEEDLV WAELRLQLPG PMDIPTEGPL TIDIFHQAKG 120 DPERDPADCL ERIWMETFTV IPSQVTFASG STVLEVTKPL SKWLKDPRAL EKQVSSRAEK 180 CWHQPYTPPV PVASTNVLML YSNRPQEQRQ LGGATLLWEA ESSWRAQEGQ LSVERGGWGR 240 RQRRHHLPDR SQLCRRVKFQ VDFNLIGWGS WIIYPKQYNA YRCEGECPNP VGEEFHPTNH 300 AYIQSLLKRY QPHRVPSTCC APVKTKPLSM LYVDNGRVLL EHHKDMIVEE CGCL 354

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NODAL	530748	E1BJ34		Bos taurus	Prediction	More>>
1:1 ortholog	NODAL	489028	E2RP99		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	NODAL	102170202	A0A452DL50		Capra hircus	Prediction	More>>
1:1 ortholog	NODAL	100072735	F6Y3I3		Equus caballus	Prediction	More>>
1:1 ortholog	NODAL	4838	Q96S42		Homo sapiens	Prediction	More>>
1:1 ortholog	Nodal	18119	P43021	CLO	Mus musculus	Publication	More>>
1:1 ortholog	NODAL	466100	H2Q215		Pan troglodytes	Prediction	More>>
1:1 ortholog	NODAL		A0A287AVE0		Sus scrofa	Prediction	More>>
1:1 ortholog	Nodal	294503	D3ZGK9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	spaw		F1QX69		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs248570317	p.Thr70Ala	missense variant	-	NC_000076.6:g.61422993A>G	UniProt
rs235806868	p.Trp91Arg	missense variant	-	NC_000076.6:g.61423056T>C	UniProt
rs224515847	p.Gly100Arg	missense variant	-	NC_000076.6:g.61423083G>C	UniProt
rs257194383	p.Ala118Thr	missense variant	-	NC_000076.6:g.61423137G>A	UniProt
rs260031776	p.Tyr186His	missense variant	-	NC_000076.6:g.61423341T>C	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005125	cytokine activity	IBA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA
GO:0048018	receptor ligand activity	IDA
GO:0070698	type I activin receptor binding	ISO
GO:0070698	type I activin receptor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001701	in utero embryonic development	IMP
GO:0001702	gastrulation with mouth forming second	IMP
GO:0001707	mesoderm formation	IMP
GO:0001707	mesoderm formation	TAS
GO:0001829	trophectodermal cell differentiation	IDA
GO:0001831	trophectodermal cellular morphogenesis	IMP
GO:0001842	neural fold formation	IMP
GO:0001889	liver development	IMP
GO:0001890	placenta development	ISO
GO:0001892	embryonic placenta development	IMP
GO:0001893	maternal placenta development	IMP
GO:0001944	vasculature development	IMP
GO:0001947	heart looping	IGI
GO:0002085	inhibition of neuroepithelial cell differentiation	IMP
GO:0007179	transforming growth factor beta receptor signaling pathway	ISA
GO:0007368	determination of left/right symmetry	IMP
GO:0007368	determination of left/right symmetry	IDA
GO:0007368	determination of left/right symmetry	IGI
GO:0007368	determination of left/right symmetry	TAS
GO:0007369	gastrulation	IMP
GO:0007399	nervous system development	IMP
GO:0007420	brain development	IMP
GO:0007492	endoderm development	IMP
GO:0007507	heart development	IMP
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0009880	embryonic pattern specification	IMP
GO:0009948	anterior/posterior axis specification	IMP
GO:0009952	anterior/posterior pattern specification	IMP
GO:0009952	anterior/posterior pattern specification	IGI
GO:0009966	regulation of signal transduction	IDA
GO:0010085	polarity specification of proximal/distal axis	IMP
GO:0010470	regulation of gastrulation	IGI
GO:0010575	positive regulation of vascular endothelial growth factor production	ISO
GO:0010721	negative regulation of cell development	IMP
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISO
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0016477	cell migration	IMP
GO:0019827	stem cell population maintenance	IGI
GO:0019827	stem cell population maintenance	IMP
GO:0022409	positive regulation of cell-cell adhesion	ISO
GO:0030324	lung development	IMP
GO:0030509	BMP signaling pathway	IBA
GO:0032927	positive regulation of activin receptor signaling pathway	ISO
GO:0033505	floor plate morphogenesis	IMP
GO:0035050	embryonic heart tube development	IMP
GO:0035987	endodermal cell differentiation	ISO
GO:0038092	nodal signaling pathway	IMP
GO:0042074	cell migration involved in gastrulation	IDA
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	ISO
GO:0045165	cell fate commitment	IMP
GO:0045596	negative regulation of cell differentiation	IDA
GO:0045766	positive regulation of angiogenesis	ISO
GO:0045766	positive regulation of angiogenesis	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI
GO:0048327	axial mesodermal cell fate specification	IMP
GO:0048382	mesendoderm development	ISO
GO:0048382	mesendoderm development	IMP
GO:0048546	digestive tract morphogenesis	IMP
GO:0048646	anatomical structure formation involved in morphogenesis	IMP
GO:0048701	embryonic cranial skeleton morphogenesis	IMP
GO:0048729	tissue morphogenesis	IMP
GO:0048859	formation of anatomical boundary	IMP
GO:0050679	positive regulation of epithelial cell proliferation	ISO
GO:0051091	positive regulation of DNA-binding transcription factor activity	ISO
GO:0055123	digestive system development	IMP
GO:0060136	embryonic process involved in female pregnancy	IMP
GO:0060137	maternal process involved in parturition	IMP
GO:0060391	positive regulation of SMAD protein signal transduction	ISO
GO:0060395	SMAD protein signal transduction	IBA
GO:0060395	SMAD protein signal transduction	IDA
GO:0060460	left lung morphogenesis	IMP
GO:0060766	negative regulation of androgen receptor signaling pathway	ISO
GO:0060802	epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification	IMP
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISO
GO:0090009	primitive streak formation	IGI
GO:0090010	transforming growth factor beta receptor signaling pathway involved in primitive streak formation	IMP
GO:1900164	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	IMP
GO:1901164	negative regulation of trophoblast cell migration	ISO
GO:1901383	negative regulation of chorionic trophoblast cell proliferation	ISO

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	IDA
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	IBA
GO:0005615	extracellular space	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0165	Cleavage on pair of basic residues
KW-0202	Cytokine
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR015615	TGF-beta-rel
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta

Gene: Nodal

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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