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

Gene ID: 4838, updated on 10-Dec-2024

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; AllianceGenome:HGNC:7865
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
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Genomic context

See NODAL in Genome Data Viewer
Location:
10q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70431936..70447951, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71301367..71317383, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72191692..72207707, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 57 like 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2447 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72194899-72195400 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72197102-72197282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72199683-72200292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72200293-72200900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72200901-72201510 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72202121-72202730 Neighboring gene Sharpr-MPRA regulatory region 10829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72210316-72210984 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:72214954-72215480 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72215481-72216006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72232724-72233490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2449 Neighboring gene phosphatase domain containing paladin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72239853-72240495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72240496-72241137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72242631-72243178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72253375-72254035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72258695-72259456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72259457-72260216 Neighboring gene YY1 transcription factor pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72273197-72273732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72273733-72274267 Neighboring gene Sharpr-MPRA regulatory region 14353 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:72288493-72289410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72297349-72298033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72298034-72298719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72301641-72302141 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72318935-72319878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72319879-72320822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72344798-72345298 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72345790-72345956 Neighboring gene Sharpr-MPRA regulatory region 12376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72356137-72356637 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Heterotaxy, visceral, 5, autosomal
MedGen: C3495537 OMIM: 270100 GeneReviews: Not available
Compare labs
Holoprosencephaly sequence
MedGen: C0079541 GeneReviews: Holoprosencephaly Overview
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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC138230

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    11268..21013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329906.2NP_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_018055.5NP_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
    Q2M3A5, Q8N4V3, Q96S42
    UniProtKB/TrEMBL
    H7C0E4
    Related
    ENSP00000287139.3, ENST00000287139.8
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    70431936..70447951 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448028.2XP_024303796.1  nodal homolog isoform X1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    71301367..71317383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365958.1XP_054221933.1  nodal homolog isoform X1