ENSG00000156574


Homo sapiens

Features
Gene ID: ENSG00000156574
  
Biological name :NODAL
  
Synonyms : NODAL / nodal growth differentiation factor / Q96S42
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q22.1
Gene start: 70432315
Gene end: 70447951
  
Corresponding Affymetrix probe sets: 230916_at (Human Genome U133 Plus 2.0 Array)   237896_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000287139
Ensembl peptide - ENSP00000394468
NCBI entrez gene - 4838     See in Manteia.
OMIM - 601265
RefSeq - NM_018055
RefSeq Peptide - NP_060525
swissprot - Q96S42
swissprot - H7C0E4
Ensembl - ENSG00000156574
  
Related genetic diseases (OMIM): 270100 - Heterotaxy, visceral, 5, 270100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ndr1ENSDARG00000057096Danio rerio
 ndr2ENSDARG00000101279Danio rerio
 spawENSDARG00000014309Danio rerio
 ENSGALG00000003209Gallus gallus
 NodalENSMUSG00000037171Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GDF3 / Q9NR23 / growth differentiation factor 3ENSG0000018434424
BMP3 / P12645 / bone morphogenetic protein 3ENSG0000015278522
INHBA / P08476 / inhibin beta A subunitENSG0000012264122
GDF10 / P55107 / growth differentiation factor 10ENSG0000026652422
TGFB2 / P61812 / transforming growth factor beta 2ENSG0000009296922
INHBE / P58166 / inhibin beta E subunitENSG0000013926922
CERS1 / P27544 / ceramide synthase 1ENSG0000022380221
GDF1 / P27539 / growth differentiation factor 1ENSG0000013028321
INHBB / P09529 / inhibin beta B subunitENSG0000016308320
TGFB3 / P10600 / transforming growth factor beta 3ENSG0000011969920
BMP15 / O95972 / bone morphogenetic protein 15ENSG0000013038520
GDF9 / O60383 / growth differentiation factor 9ENSG0000016440419
TGFB1 / P01137 / transforming growth factor beta 1ENSG0000010532919
GDF11 / O95390 / growth differentiation factor 11ENSG0000013541418
INHBC / P55103 / inhibin beta C subunitENSG0000017518918
MSTN / O14793 / myostatinENSG0000013837918
GDF15 / Q99988 / growth differentiation factor 15ENSG0000013051315


Protein motifs (from Interpro)
Interpro ID Name
 IPR001839  Transforming growth factor-beta, C-terminal
 IPR015615  Transforming growth factor-beta-related
 IPR017948  Transforming growth factor beta, conserved site
 IPR029034  Cystine-knot cytokine


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001702 gastrulation with mouth forming second IEA
 biological_processGO:0001707 mesoderm formation IEA
 biological_processGO:0001829 trophectodermal cell differentiation IEA
 biological_processGO:0001831 trophectodermal cellular morphogenesis IEA
 biological_processGO:0001842 neural fold formation IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001890 placenta development IMP
 biological_processGO:0001892 embryonic placenta development IEA
 biological_processGO:0001893 maternal placenta development IEA
 biological_processGO:0001944 vasculature development IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0002085 inhibition of neuroepithelial cell differentiation IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IEA
 biological_processGO:0007369 gastrulation IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007492 endoderm development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009880 embryonic pattern specification IEA
 biological_processGO:0009948 anterior/posterior axis specification IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0009966 regulation of signal transduction IEA
 biological_processGO:0010085 polarity specification of proximal/distal axis IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010470 regulation of gastrulation IEA
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IMP
 biological_processGO:0010721 negative regulation of cell development IEA
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IMP
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0019827 stem cell population maintenance IEA
 biological_processGO:0022409 positive regulation of cell-cell adhesion IMP
 biological_processGO:0030324 lung development IEA
 biological_processGO:0030509 BMP signaling pathway IBA
 biological_processGO:0032927 positive regulation of activin receptor signaling pathway IGI
 biological_processGO:0033505 floor plate morphogenesis IEA
 biological_processGO:0035050 embryonic heart tube development IEA
 biological_processGO:0035987 endodermal cell differentiation IMP
 biological_processGO:0038092 nodal signaling pathway IEA
 biological_processGO:0042074 cell migration involved in gastrulation IEA
 biological_processGO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0045165 cell fate commitment IEA
 biological_processGO:0045596 negative regulation of cell differentiation IEA
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048327 axial mesodermal cell fate specification IEA
 biological_processGO:0048382 mesendoderm development IMP
 biological_processGO:0048468 cell development IBA
 biological_processGO:0048546 digestive tract morphogenesis IEA
 biological_processGO:0048646 anatomical structure formation involved in morphogenesis IEA
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IEA
 biological_processGO:0048729 tissue morphogenesis IEA
 biological_processGO:0048859 formation of anatomical boundary IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IDA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IMP
 biological_processGO:0055123 digestive system development IEA
 biological_processGO:0060136 embryonic process involved in female pregnancy IEA
 biological_processGO:0060137 maternal process involved in parturition IEA
 biological_processGO:0060391 positive regulation of SMAD protein signal transduction IMP
 biological_processGO:0060395 SMAD protein signal transduction IEA
 biological_processGO:0060460 left lung morphogenesis IEA
 biological_processGO:0060766 negative regulation of androgen receptor signaling pathway IDA
 biological_processGO:0060802 epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0090009 primitive streak formation IEA
 biological_processGO:0090010 transforming growth factor beta receptor signaling pathway involved in primitive streak formation IEA
 biological_processGO:1900164 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry IEA
 biological_processGO:1900224 positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry ISS
 biological_processGO:1901164 negative regulation of trophoblast cell migration IDA
 biological_processGO:1901383 negative regulation of chorionic trophoblast cell proliferation IDA
 biological_processGO:2000036 regulation of stem cell population maintenance TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 molecular_functionGO:0005125 cytokine activity IBA
 molecular_functionGO:0005160 transforming growth factor beta receptor binding IBA
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0016015 morphogen activity NAS
 molecular_functionGO:0048018 receptor ligand activity IEA
 molecular_functionGO:0070698 type I activin receptor binding IMP


Pathways (from Reactome)
Pathway description
Signaling by NODAL
Regulation of signaling by NODAL


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001651 Dextrocardia "A left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side in stead of the left." [HPO:sdoelken]
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 HP:0001669 Transposition of the great vessels 
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 HP:0002086 Respiratory abnormality 
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 HP:0003363 Abdominal situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the abdominal organs." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000130283 GDF1 / P27539 / growth differentiation factor 1  / complex
 ENSG00000121989 ACVR2A / P27037 / activin A receptor type 2A  / reaction / complex
 ENSG00000123612 ACVR1C / Q8NER5 / activin A receptor type 1C  / complex / reaction
 ENSG00000135503 ACVR1B / P36896 / activin A receptor type 1B  / reaction / complex
 ENSG00000136698 CFC1 / P0CG37 / cripto, FRL-1, cryptic family 1  / complex / reaction
 ENSG00000243709 LEFTY1 / O75610 / left-right determination factor 1  / complex / reaction
 ENSG00000140564 FURIN / P09958 / furin, paired basic amino acid cleaving enzyme  / reaction
 ENSG00000147869 CER1 / O95813 / cerberus 1, DAN family BMP antagonist  / reaction / complex
 ENSG00000156574 NODAL / Q96S42 / nodal growth differentiation factor  / complex
 ENSG00000143768 LEFTY2 / O00292 / left-right determination factor 2  / reaction / complex
 ENSG00000241186 TDGF1 / P13385 / teratocarcinoma-derived growth factor 1  / complex / reaction
 ENSG00000140479 PCSK6 / P29122 / proprotein convertase subtilisin/kexin type 6  / reaction
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / reaction / complex






 

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