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    NODAL nodal growth differentiation factor [ Homo sapiens (human) ]

    Gene ID: 4838, updated on 22-Apr-2017
    Official Symbol
    NODALprovided by HGNC
    Official Full Name
    nodal growth differentiation factorprovided by HGNC
    Primary source
    HGNC:HGNC:7865
    See related
    Ensembl:ENSG00000156574 MIM:601265; Vega:OTTHUMG00000018408
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HTX5
    Summary
    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 gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]
    Orthologs
    Location:
    10q22.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (70431936..70441709, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72191692..72201465, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 57 like 1 pseudogene 1 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 Neighboring gene phosphatase domain containing, paladin 1 Neighboring gene YY1 transcription factor pseudogene 1 Neighboring gene perforin 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Holoprosencephaly sequence
    MedGen: C0079541 GeneReviews: Holoprosencephaly Overview
    Compare labs
    Visceral heterotaxy 5, autosomal
    MedGen: C3495537 OMIM: 270100 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-08-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2013-08-08)

    ClinGen Genome Curation PagePubMed
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
      Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    • Regulation of signaling by NODAL, organism-specific biosystem (from REACTOME)
      Regulation of signaling by NODAL, organism-specific biosystemMature NODAL can form heterodimers with LEFTY1, LEFTY2, or CERBERUS. The heterodimers do not activate the NODAL receptor. LEFTY1 and LEFTY2 also bind CRIPTO and CRYPTIC coreceptors and prevent them f...
    • Signaling by NODAL, organism-specific biosystem (from REACTOME)
      Signaling by NODAL, organism-specific biosystemSignaling by NODAL is essential for patterning of the axes of the embryo and formation of mesoderm and endoderm (reviewed in Schier 2009, Shen 2007). The NODAL proprotein is secreted and cleaved extr...
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Tgif disruption of Shh signaling, organism-specific biosystem (from WikiPathways)
      Tgif disruption of Shh signaling, organism-specific biosystemMutations in the Sonic Hedgehog(SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE. HPE is a severe human genetic disease affecting craniofa...

    Markers

    Homology

    Clone Names

    • MGC138230

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    morphogen activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    receptor agonist activity IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    type I activin receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    axial mesodermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell migration involved in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    endodermal cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    floor plate morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    formation of anatomical boundary IEA
    Inferred from Electronic Annotation
    more info
     
    heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    inhibition of neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    left lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    maternal placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    maternal process involved in parturition IEA
    Inferred from Electronic Annotation
    more info
     
    mesendoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of androgen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of chorionic trophoblast cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of trophoblast cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural fold formation IEA
    Inferred from Electronic Annotation
    more info
     
    nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
     
    placenta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    polarity specification of proximal/distal axis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of SMAD protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of activin receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of sequence-specific DNA binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of vascular endothelial growth factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of stem cell population maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway involved in primitive streak formation IEA
    Inferred from Electronic Annotation
    more info
     
    trophectodermal cellular morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012448.2 RefSeqGene

      Range
      11240..21013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329906.1NP_001316835.1  nodal homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus, and lacks the signal peptide and a portion of the propeptide compared to isoform 1.
      Source sequence(s)
      AC022532, AI670948, BC039861
    2. NM_018055.4NP_060525.3  nodal homolog isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_060525.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC022532, BC033585, BC104976
      Consensus CDS
      CCDS7304.1
      UniProtKB/Swiss-Prot
      Q96S42
      Related
      ENSP00000287139.3, OTTHUMP00000019754, ENST00000287139.7, OTTHUMT00000048511
      Conserved Domains (2) summary
      smart00204
      Location:247346
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:29166
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      70431936..70441709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      72473912..72483685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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