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Aliases for NODAL Gene

Aliases for NODAL Gene

  • Nodal Growth Differentiation Factor 2 3
  • Nodal, Mouse, Homolog 2
  • Nodal Homolog (Mouse) 2
  • HTX5 3

External Ids for NODAL Gene

Previous GeneCards Identifiers for NODAL Gene

  • GC10U990041
  • GC10P072086
  • GC10M071536
  • GC10M071862
  • GC10M072191
  • GC10M066185

Summaries for NODAL Gene

Entrez Gene Summary for NODAL Gene

  • The protein encoded by this gene is a member of the TGF-beta superfamily. Studies of the mouse counterpart suggested that this gene may be essential for mesoderm formation and subsequent organization of axial structures in early embryonic development. [provided by RefSeq, Jul 2008]

GeneCards Summary for NODAL Gene

NODAL (Nodal Growth Differentiation Factor) is a Protein Coding gene. Diseases associated with NODAL include nodal-related holoprosencephaly and nodal-related visceral heterotaxy. Among its related pathways are Developmental Biology and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP15.

UniProtKB/Swiss-Prot for NODAL Gene

  • Essential for mesoderm formation and axial patterning during embryonic development.

Gene Wiki entry for NODAL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NODAL Gene

Genomics for NODAL Gene

Regulatory Elements for NODAL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NODAL Gene

Chromosome:
10
Start:
70,431,936 bp from pter
End:
70,447,951 bp from pter
Size:
16,016 bases
Orientation:
Minus strand

Genomic View for NODAL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for NODAL Gene

Proteins for NODAL Gene

  • Protein details for NODAL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S42-NODAL_HUMAN
    Recommended name:
    Nodal homolog
    Protein Accession:
    Q96S42
    Secondary Accessions:
    • Q2M3A5
    • Q8N4V3

    Protein attributes for NODAL Gene

    Size:
    347 amino acids
    Molecular mass:
    39561 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for NODAL Gene

neXtProt entry for NODAL Gene

Proteomics data for NODAL Gene at MOPED

Post-translational modifications for NODAL Gene

  • Glycosylation at Asn 72 and Asn 199

Other Protein References for NODAL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NODAL Gene

Domains & Families for NODAL Gene

Suggested Antigen Peptide Sequences for NODAL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96S42

UniProtKB/Swiss-Prot:

NODAL_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with NODAL: view

No data available for Gene Families for NODAL Gene

Function for NODAL Gene

Molecular function for NODAL Gene

GENATLAS Biochemistry:
NODAL,homolog of the mouse nodal,TGFB family member,involved in the control of the direction of cardiac looping and the development of left-right asymetry
UniProtKB/Swiss-Prot Function:
Essential for mesoderm formation and axial patterning during embryonic development.

Gene Ontology (GO) - Molecular Function for NODAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding --
GO:0008083 growth factor activity IEA --
GO:0016015 morphogen activity NAS 21159651
genes like me logo Genes that share ontologies with NODAL: view
genes like me logo Genes that share phenotypes with NODAL: view

Animal Models for NODAL Gene

MGI Knock Outs for NODAL:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NODAL Gene

Localization for NODAL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NODAL Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NODAL Gene COMPARTMENTS Subcellular localization image for NODAL gene
Compartment Confidence
extracellular 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for NODAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IDA 21656830
genes like me logo Genes that share ontologies with NODAL: view

Pathways & Interactions for NODAL Gene

genes like me logo Genes that share pathways with NODAL: view

Pathways by source for NODAL Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for NODAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001701 in utero embryonic development --
GO:0001702 gastrulation with mouth forming second --
GO:0001707 mesoderm formation --
GO:0001829 trophectodermal cell differentiation --
genes like me logo Genes that share ontologies with NODAL: view

No data available for SIGNOR curated interactions for NODAL Gene

Drugs & Compounds for NODAL Gene

(1) Drugs for NODAL Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
bromodeoxyuridine Pharma 4
genes like me logo Genes that share compounds with NODAL: view

Transcripts for NODAL Gene

mRNA/cDNA for NODAL Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NODAL Gene

Nodal growth differentiation factor:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NODAL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NODAL Gene

No ASD Table

Relevant External Links for NODAL Gene

GeneLoc Exon Structure for
NODAL
ECgene alternative splicing isoforms for
NODAL

Expression for NODAL Gene

mRNA expression in normal human tissues for NODAL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NODAL Gene

This gene is overexpressed in Muscle - Skeletal (x6.5).

SOURCE GeneReport for Unigene cluster for NODAL Gene Hs.370414

genes like me logo Genes that share expression patterns with NODAL: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for NODAL Gene

Orthologs for NODAL Gene

This gene was present in the common ancestor of animals.

Orthologs for NODAL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NODAL 35
  • 84.73 (n)
  • 85.8 (a)
NODAL 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NODAL 35
  • 85.69 (n)
  • 85.59 (a)
NODAL 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nodal 35
  • 81.94 (n)
  • 80.4 (a)
Nodal 16
Nodal 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NODAL 35
  • 98.46 (n)
  • 98.56 (a)
NODAL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nodal 35
  • 81.17 (n)
  • 79.83 (a)
oppossum
(Monodelphis domestica)
Mammalia NODAL 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NODAL 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NODAL 35
  • 52.47 (n)
  • 40.23 (a)
NODAL 36
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NODAL 36
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497218 35
  • 49.83 (n)
  • 42.42 (a)
zebrafish
(Danio rerio)
Actinopterygii ndr2 35
ndr2 36
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta scw 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tig-2 36
  • 15 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for NODAL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NODAL Gene

ENSEMBL:
Gene Tree for NODAL (if available)
TreeFam:
Gene Tree for NODAL (if available)

Paralogs for NODAL Gene

Paralogs for NODAL Gene

(8) SIMAP similar genes for NODAL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NODAL: view

Variants for NODAL Gene

Sequence variations from dbSNP and Humsavar for NODAL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1904589 Benign, Benign, - 70,435,683(+) CAGGG(C/T)GCTTC reference, missense
rs2199843 -- 70,439,883(+) CTGGC(C/T)AATAT intron-variant
rs2231947 -- 70,434,098(+) ATCCC(A/G)CCTGA intron-variant
rs2231948 -- 70,434,103(+) GCCTG(A/G)GGCTT intron-variant
rs2231949 -- 70,434,218(+) CACCT(A/G)TAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NODAL Gene

Variant ID Type Subtype PubMed ID
esv32737 CNV Gain+Loss 17666407

Variation tolerance for NODAL Gene

Residual Variation Intolerance Score: 92.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NODAL Gene

HapMap Linkage Disequilibrium report
NODAL
Human Gene Mutation Database (HGMD)
NODAL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NODAL Gene

Disorders for NODAL Gene

MalaCards: The human disease database

(40) MalaCards diseases for NODAL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nodal-related holoprosencephaly
nodal-related visceral heterotaxy
  • htx5
dextrocardia with situs inversus
  • situs inversus totalis
heterotaxy, visceral, 5
  • heterotaxy, visceral, 5, autosomal
visceral heterotaxy
  • heterotaxia
- elite association
Search NODAL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NODAL_HUMAN
  • Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]: 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 been associated with 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. {ECO:0000269 PubMed:19064609, ECO:0000269 PubMed:9354794}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NODAL

Genetic Association Database (GAD)
NODAL
Human Genome Epidemiology (HuGE) Navigator
NODAL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NODAL
genes like me logo Genes that share disorders with NODAL: view

No data available for Genatlas for NODAL Gene

Publications for NODAL Gene

  1. Integrative genomic analyses of CXCR4: transcriptional regulation of CXCR4 based on TGFbeta, Nodal, Activin signaling and POU5F1, FOXA2, FOXC2, FOXH1, SOX17, and GFI1 transcription factors. (PMID: 20043076) Katoh M. … Katoh M. (Int. J. Oncol. 2010) 23 67
  2. Small molecules efficiently direct endodermal differentiation of mouse and human embryonic stem cells. (PMID: 19341624) Borowiak M. … Melton D.A. (Cell Stem Cell 2009) 23 67
  3. Insulin gene is a target in activin receptor-like kinase 7 signaling pathway in pancreatic beta-cells. (PMID: 18951876) Watanabe R. … Yamada Y. (Biochem. Biophys. Res. Commun. 2008) 23 67
  4. Cyclin G2 is degraded through the ubiquitin-proteasome pathway and mediates the antiproliferative effect of activin receptor-like kinase 7. (PMID: 18784254) Xu G. … Peng C. (Mol. Biol. Cell 2008) 23 67
  5. Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency. (PMID: 18440989) MacDonald S.T. … Bhattacharya S. (Cardiovasc. Res. 2008) 23 67

Products for NODAL Gene

Sources for NODAL Gene

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