• Gene id: 4838

Gene Summary

• Gene Symbol: NODAL   Gene   UCSC   Ensembl
• Aliases: HTX5
• Gene name: nodal growth differentiation factor
• Alternate names: nodal homolog,
• Gene location: 10q22.1 (70447947: 70431935)     Exons: 5     NC_000010.11
• Gene summary(Entrez): This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
• OMIM: 601265

Protein Summary

• Protein general information: Q96S42  
  • Name: Nodal homolog
  • Length: 347  
  • Mass: 39,561
  • Tissue specificity: Expressed predominantly in liver, pancreas and placenta. Not detected in heart or brain. Highly expressed in a number of tumors, especially esophageal tumors, in anaplastic thyroid carcinomas, adrenocortical carcinomas, and in non-smal
• Sequence:

  MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRSLQAEDVAVDGQNWTF
  AFDFSFLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGS
  MVLEVTRPLSKWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEG
  QLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLL
  KRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 4N1D
  • PDBsum: 4N1D
  • STRING: ENSP00000287139
• Other Databases: GeneCards:  NODAL  Malacards:  NODAL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0001831	trophectodermal cellular morphogenesis	IEA	biological process
GO:0001842	neural fold formation	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001890	placenta development	IMP	biological process
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001893	maternal placenta development	IEA	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0002085	inhibition of neuroepithelial cell differentiation	IEA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0010085	polarity specification of proximal/distal axis	IEA	biological process
GO:0010470	regulation of gastrulation	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP	biological process
GO:0010721	negative regulation of cell development	IEA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0016015	morphogen activity	NAS	molecular function
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0022409	positive regulation of cell-cell adhesion	IMP	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0032927	positive regulation of activin receptor signaling pathway	IGI	biological process
GO:0033505	floor plate morphogenesis	IEA	biological process
GO:0035987	endodermal cell differentiation	IMP	biological process
GO:0042074	cell migration involved in gastrulation	IEA	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048018	receptor agonist activity	IEA	molecular function
GO:0048327	axial mesodermal cell fate specification	IEA	biological process
GO:0048382	mesendoderm development	IMP	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048859	formation of anatomical boundary	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0060136	embryonic process involved in female pregnancy	IEA	biological process
GO:0060137	maternal process involved in parturition	IEA	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	IMP	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0060460	left lung morphogenesis	IEA	biological process
GO:0060766	negative regulation of androgen receptor signaling pathway	IDA	biological process
GO:0060802	epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070698	type I activin receptor binding	IMP	molecular function
GO:0090010	transforming growth factor beta receptor signaling pathway involved in primitive streak formation	IEA	biological process
GO:1900164	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	IEA	biological process
GO:1900224	positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	ISS	biological process
GO:1901164	negative regulation of trophoblast cell migration	IDA	biological process
GO:1901383	negative regulation of chorionic trophoblast cell proliferation	IDA	biological process
GO:2000036	regulation of stem cell population maintenance	TAS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001829	trophectodermal cell differentiation	IEA	biological process
GO:0001831	trophectodermal cellular morphogenesis	IEA	biological process
GO:0001842	neural fold formation	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001890	placenta development	IMP	biological process
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001893	maternal placenta development	IEA	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0002085	inhibition of neuroepithelial cell differentiation	IEA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0010085	polarity specification of proximal/distal axis	IEA	biological process
GO:0010470	regulation of gastrulation	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP	biological process
GO:0010721	negative regulation of cell development	IEA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0016015	morphogen activity	NAS	molecular function
GO:0016477	cell migration	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0022409	positive regulation of cell-cell adhesion	IMP	biological process
GO:0030324	lung development	IEA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0032927	positive regulation of activin receptor signaling pathway	IGI	biological process
GO:0033505	floor plate morphogenesis	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0035987	endodermal cell differentiation	IMP	biological process
GO:0038092	nodal signaling pathway	IEA	biological process
GO:0042074	cell migration involved in gastrulation	IEA	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048018	receptor agonist activity	IEA	molecular function
GO:0048327	axial mesodermal cell fate specification	IEA	biological process
GO:0048382	mesendoderm development	IEA	biological process
GO:0048382	mesendoderm development	IMP	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048729	tissue morphogenesis	IEA	biological process
GO:0048859	formation of anatomical boundary	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0055123	digestive system development	IEA	biological process
GO:0060136	embryonic process involved in female pregnancy	IEA	biological process
GO:0060137	maternal process involved in parturition	IEA	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	IMP	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0060460	left lung morphogenesis	IEA	biological process
GO:0060766	negative regulation of androgen receptor signaling pathway	IDA	biological process
GO:0060802	epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070698	type I activin receptor binding	IMP	molecular function
GO:0090009	primitive streak formation	IEA	biological process
GO:0090010	transforming growth factor beta receptor signaling pathway involved in primitive streak formation	IEA	biological process
GO:1900164	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	IEA	biological process
GO:1900224	positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	ISS	biological process
GO:1901164	negative regulation of trophoblast cell migration	IDA	biological process
GO:1901383	negative regulation of chorionic trophoblast cell proliferation	IDA	biological process
GO:2000036	regulation of stem cell population maintenance	TAS	biological process
GO:0001890	placenta development	IMP	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0010575	positive regulation of vascular endothelial growth factor production	IMP	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0016015	morphogen activity	NAS	molecular function
GO:0022409	positive regulation of cell-cell adhesion	IMP	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0032927	positive regulation of activin receptor signaling pathway	IGI	biological process
GO:0035987	endodermal cell differentiation	IMP	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0048382	mesendoderm development	IMP	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	IMP	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0060766	negative regulation of androgen receptor signaling pathway	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070698	type I activin receptor binding	IMP	molecular function
GO:1900224	positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	ISS	biological process
GO:1901164	negative regulation of trophoblast cell migration	IDA	biological process
GO:1901383	negative regulation of chorionic trophoblast cell proliferation	IDA	biological process
GO:2000036	regulation of stem cell population maintenance	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Cancer (head and neck)	GAD: 20819778
Cardiovascular disease	GAD: 19064609
Cardiovascular disease	GAD: 19064609
Obesity	GAD: 20734064
Alzheimer's disease	GAD: 16385451
Alzheimer's disease	GAD: 16385451
Endometriosis	INFBASE: 25228630
Obstructive azoospermia	MIK: 26289399
Non obstructive azoospermia	MIK: 26289399
Obstructive azoospermia	MIK: 26289399
Nonobstructive azoospermia (NOA)	MIK: 26289399

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26289399	Obstructive azoospermia (OA) and nonobstructive azoospermia (NOA)				Male infertility