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

Gene ID: 4838, updated on 24-Feb-2019

Summary

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
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See NODAL in Genome Data Viewer
Location:
10q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (70431936..70447948, 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 Sharpr-MPRA regulatory region 10859 Neighboring gene phosphatase domain containing paladin 1 Neighboring gene YY1 transcription factor pseudogene 1 Neighboring gene perforin 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
morphogen activity NAS
Non-traceable Author Statement
more info
PubMed 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I activin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 by RNA polymerase II 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 DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of SMAD protein signal transduction 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of gastrulation IEA
Inferred from Electronic Annotation
more info
 
regulation of signaling receptor activity 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    Conserved Domains (1) summary
    smart00204
    Location:114213
    TGFB; Transforming growth factor-beta (TGF-beta) family
  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, ENST00000287139.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    70431936..70447948 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448028.1XP_024303796.1  nodal homolog isoform X1

    Conserved Domains (1) summary
    smart00204
    Location:114213
    TGFB; Transforming growth factor-beta (TGF-beta) family
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