Entity Details

Primary name NODAL
Entity type gene
Source Source Link

Details

PrimaryID4838
RefseqGeneNG_012448
SymbolNODAL
Namenodal growth differentiation factor
Chromosome10
Location10q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNODAL_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001831 trophectodermal cellular morphogenesis
GO:0001842 neural fold formation
GO:0001889 liver development
GO:0001890 placenta development
GO:0001892 embryonic placenta development
GO:0001893 maternal placenta development
GO:0001944 vasculature development
GO:0001947 heart looping
GO:0002085 inhibition of neuroepithelial cell differentiation
GO:0005125 cytokine activity
GO:0005615 extracellular space
GO:0007420 brain development
GO:0008083 growth factor activity
GO:0009880 embryonic pattern specification
GO:0010085 polarity specification of proximal/distal axis
GO:0010470 regulation of gastrulation
GO:0010575 positive regulation of vascular endothelial growth factor production
GO:0010721 negative regulation of cell development
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016015 morphogen activity
GO:0019827 stem cell population maintenance
GO:0022409 positive regulation of cell-cell adhesion
GO:0030509 BMP signaling pathway
GO:0032927 positive regulation of activin receptor signaling pathway
GO:0033505 floor plate morphogenesis
GO:0035987 endodermal cell differentiation
GO:0042074 cell migration involved in gastrulation
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045766 positive regulation of angiogenesis
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048327 axial mesodermal cell fate specification
GO:0048382 mesendoderm development
GO:0048546 digestive tract morphogenesis
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048859 formation of anatomical boundary
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051091 positive regulation of DNA-binding transcription factor activity
GO:0060136 embryonic process involved in female pregnancy
GO:0060137 maternal process involved in parturition
GO:0060391 positive regulation of SMAD protein signal transduction
GO:0060395 SMAD protein signal transduction
GO:0060460 left lung morphogenesis
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0060802 epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070698 type I activin receptor binding
GO:0090010 transforming growth factor beta receptor signaling pathway involved in primitive streak formation
GO:1900164 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
GO:1900224 positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
GO:1901164 negative regulation of trophoblast cell migration
GO:1901383 negative regulation of chorionic trophoblast cell proliferation
GO:2000036 regulation of stem cell population maintenance

Diseases

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Disease IDSourceNameDescription
270100 OMIMHeterotaxy, visceral, 5, autosomal (HTX5)A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
NODALKRT31BioGRID, IntAct32296183 details
NODALTDGF1BioGRID28126904 details
NODALACVR1BBioGRID28126904 details
NODALACVR2ABioGRID28126904 details
NODALACVR2BBioGRID28126904 details
NODALRSPRY1BioGRID, IntAct28514442 details