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NODAL Gene

protein-coding   GIFtS: 61
GCID: GC10M072191

Nodal Growth Differentiation Factor

(Previous names: nodal, mouse, homolog, nodal homolog (mouse))
  See NODAL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nodal Growth Differentiation Factor1 2
HTX52 5
Nodal Homolog (Mouse)1
Nodal, Mouse, Homolog1
Nodal Homolog2

External Ids:    HGNC: 78651   Entrez Gene: 48382   Ensembl: ENSG000001565747   OMIM: 6012655   UniProtKB: Q96S423   

Export aliases for NODAL gene to outside databases

Previous GC identifers: GC10U990041 GC10P072086 GC10M071536 GC10M071862 GC10M066185


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 visceral heterotaxy, and dextrocardia with situs inversus. GO annotations related to this gene include cytokine activity and receptor agonist activity. An important paralog of this gene is GDF15.

UniProtKB/Swiss-Prot: NODAL_HUMAN, Q96S42
Function: Essential for mesoderm formation and axial patterning during embryonic development (By similarity)

Gene Wiki entry for NODAL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the NODAL gene promoter:
         RelA   AP-4   NF-kappaB   LCR-F1   c-Ets-1   Max   CP2   COMP1   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNODAL promoter sequence
   Search Chromatin IP Primers for NODAL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NODAL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

NODAL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NODAL gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M072191:  view genomic region     (about GC identifiers)

Start:
72,191,692 bp from pter      End:
72,207,707 bp from pter
Size:
16,016 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NODAL_HUMAN, Q96S42 (See protein sequence)
Recommended Name: Nodal homolog precursor  
Size: 347 amino acids; 39561 Da
Subunit: Homodimer; disulfide-linked (By similarity)
1 PDB 3D structure from and Proteopedia for NODAL:
4N1D (3D)    
Secondary accessions: Q2M3A5 Q8N4V3

Explore the universe of human proteins at neXtProt for NODAL: NX_Q96S42

Explore proteomics data for NODAL at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn72, Asn199

  • See NODAL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060525.3  
    ENSEMBL proteins: 
     ENSP00000287139   ENSP00000394468  
    Reactome Protein details: Q96S42

    NODAL Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for NODAL
    OriGene Custom MassSpec
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    Novus Biologicals NODAL Protein
    Novus Biologicals NODAL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NODAL

     
    Search eBioscience for Proteins for NODAL 

     
    antibodies-online proteins for NODAL (3 products) 

     
    antibodies-online peptides for NODAL

    NODAL Antibody Products:

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    antibodies-online antibodies for NODAL 

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    antibodies-online kits for NODAL (3 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001111 TGF-b_N
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS
     IPR015615 TGF-beta-rel

    Graphical View of Domain Structure for InterPro Entry Q96S42

    ProtoNet protein and cluster: Q96S42

    2 Blocks protein domains:
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature


    UniProtKB/Swiss-Prot: NODAL_HUMAN, Q96S42
    Similarity: Belongs to the TGF-beta family


    Find genes that share domains with NODAL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NODAL_HUMAN, Q96S42
    Function: Essential for mesoderm formation and axial patterning during embryonic development (By similarity)

         Genatlas biochemistry entry for NODAL:
    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

         Summary: 
    During embryonic development, NODAL as signaling molecule is secreted from the following cells:
          selected tissues (see all 5)      
    Primitive Streak: Primitive Node Cells (Primitive Node)
    Epiblast: Intraembryonic Epiblast Cells (Epiblast)

    It affects the following cells:
          selected tissues (see all 5)      fully expand
    Primitive Streak: Mesoderm Progenitor Cells (Anterior Primitive Streak), Primitive Streak Cells (Anterior Primitive Streak)      fully expand to see all 5 cells
    Hypoblast: Extraembryonic Visceral Endoderm Cells (Visceral Endoderm), Visceral Endoderm Cells (Extraembryonic Visceral Endoderm)      fully expand to see all 3 cells

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--
    GO:0016015morphogen activity NAS--
    GO:0048018receptor agonist activity IEA--
         
    Find genes that share ontologies with NODAL           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 17 alleles(MGI details for Nodal) (see all 20):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    Find genes that share phenotypes with NODAL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NODAL: Nodaltm2Rob Nodaltm1Hmd Nodaltm1.1Hmd Nodaltm3Rob Nodaltm4Rob Nodaltm1.2Rob
                                                         Nodaltm1.1Rob Nodaltm6Rob Nodaltm1.1Mku

       genOway: Develop your customized and physiologically relevant rodent model for NODAL

    miRNA
    Products:
        
    miRTarBase miRNAs that target NODAL:
    hsa-mir-122-5p (MIRT023342)

    Block miRNA regulation of human, mouse, rat NODAL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NODAL (see all 17):
    hsa-miR-1226 hsa-miR-3194-5p hsa-miR-4311 hsa-miR-4288 hsa-miR-1224-3p hsa-miR-513a-5p hsa-miR-632 hsa-miR-346
    SwitchGear 3'UTR luciferase reporter plasmidNODAL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NODAL
    Predesigned siRNA for gene silencing in human, mouse, rat NODAL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NODAL

    Clone
    Products:
         
    OriGene clones in human, mouse for NODAL (see all 7)
    OriGene ORF clones in mouse, rat for NODAL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NODAL (NM_018055)
    Sino Biological Human cDNA Clone for NODAL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NODAL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NODAL

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NODAL

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA4-14128) for NODAL 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NODAL_HUMAN, Q96S42: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IDA--

    Find genes that share ontologies with NODAL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NODAL About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by NODAL
    Signaling by NODAL0.39
    Regulation of Signaling by NODAL0.00
    2L1CAM interactions
    Developmental Biology0.63
    3Ca-dependent events
    Development Role of Activin A in cell differentiation and proliferation0.32
    4TGF-beta signaling pathway (KEGG)
    TGF-beta signaling pathway
    5Selected targets of Oct 3 4
    Selected targets of Oct 3 4


    Find genes that share SuperPaths with NODAL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for NODAL
        Development Role of Activin A in cell differentiation and proliferation

    2 BioSystems Pathways for NODAL
        Cardiac Progenitor Differentiation
    Integrated Pancreatic Cancer Pathway


    2 Reactome Pathways for NODAL
        Signaling by NODAL
    Regulation of signaling by NODAL


    1 Kegg Pathway  (Kegg details for NODAL):
        TGF-beta signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NODAL (see all 8): 
              Notch Signaling Targets in human mouse rat
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Cytokines & Chemokines in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NODAL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NODAL (Q96S423 ENSP000002871394) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFC1P0CG373I2D: score=1 
    ACVR1BENSP000002579634STRING: ENSP00000257963
    ACVR1CENSP000002433494STRING: ENSP00000243349
    ACVR2AENSP000002414164STRING: ENSP00000241416
    ACVR2BENSP000003403614STRING: ENSP00000340361
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 70):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001701in utero embryonic development ----
    GO:0001702gastrulation with mouth forming second ----
    GO:0001707mesoderm formation ----
    GO:0001829trophectodermal cell differentiation ----

    Find genes that share ontologies with NODAL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NODAL

    1 Novoseek inferred chemical compound relationship for NODAL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bromodeoxyuridine 39.3 3 15150278 (1), 15531507 (1)



    Find genes that share compounds with NODAL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NODAL gene: 
    NM_018055.4  

    Unigene Cluster for NODAL:

    Nodal growth differentiation factor
    Hs.370414  [show with all ESTs]
    Unigene Representative Sequence: NM_018055
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287139(uc001jrc.2) ENST00000414871
    miRNA
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    Block miRNA regulation of human, mouse, rat NODAL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NODAL (see all 17):
    hsa-miR-1226 hsa-miR-3194-5p hsa-miR-4311 hsa-miR-4288 hsa-miR-1224-3p hsa-miR-513a-5p hsa-miR-632 hsa-miR-346
    SwitchGear 3'UTR luciferase reporter plasmidNODAL 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NODAL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NODAL
      QuantiTect SYBR Green Assays in human, mouse, rat NODAL
      QuantiFast Probe-based Assays in human, mouse, rat NODAL
    Flow Cytometry
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    Additional mRNA sequence: 

    BC033585.1 BC039861.1 BC104976.1 BC112025.1 

    3 DOTS entries:

    DT.75101266  DT.91742107  DT.439232 

    Selected AceView cDNA sequences (see all 29):

    NM_018055 AA974190 AA935262 AI050866 BC033585 BF195158 BX093399 Z40004 
    BC039861 BM563257 AI918761 AW510847 BG220990 AI955053 AI653393 AA807376 
    BG198625 AI670948 BI522732 AA866159 AI992341 AW304059 AI653009 AI656590 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NODAL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NODAL Expression
    About this image


    NODAL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 10 entries
             Mesoderm Progenitor Cells Anterior Primitive Streak
             Mesendodermal-like cells
     
     Epiblast (Early Embryo)    fully expand to see all 9 entries
             Intraembryonic Epiblast Cells Epiblast
             Epiblast Stem Cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 10 entries
             Inner Cell Mass Cells Inner Cell Mass
             Line H1 (WA01)
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             Mesoderm Progenitor Cells Anterior Primitive Streak
     
     Endoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesendoderm Cells Anterior Primitive Streak
    NODAL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NODAL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370414
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NODAL (see all 8): 
              Notch Signaling Targets in human mouse rat
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Cytokines & Chemokines in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NODAL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NODAL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NODAL gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nodal1 , 5 nodal1, 5 81.94(n)1
    80.4(a)1
      10 (32.21 cM)5
    181191  NM_013611.41  NP_038639.21 
     614179725 
    chicken
    (Gallus gallus)
    Aves NODAL1 nodal homolog (mouse) 52.47(n)
    40.23(a)
      395205  XM_424385.4  XP_424385.3 
    lizard
    (Anolis carolinensis)
    Reptilia NODAL6
    nodal growth differentiation factor
    32(a)
    1 ↔ 1
    3(50911098-50933538)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB038134.12   -- 71.59(n)    AB038134.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndr22 nodal-related 2 71.9(n)   30292  AF002219.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta scw6
    screw
    17(a)
    1 ↔ 1
    2L(19699627-19700968)
    worm
    (Caenorhabditis elegans)
    Secernentea tig-26
    Protein TIG-2 (tig-2) mRNA, complete cds
    15(a)
    1 ↔ 1
    V(4726719-4730169) WBGene00006570


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NODAL gene
    GDF152  GDF92  BMP32  GDF102  BMP152  
    8 SIMAP similar genes for NODAL using alignment to 2 protein entries:     NODAL_HUMAN (see all proteins):
    BMP2    BMP4    BMP8A    GDF5    BMP3    DKFZp686A06204
    INHA    BMPY

    Find genes that share paralogs with NODAL           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NODAL (see all 276)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs109993341,2,,4
    C,F,HHeterotaxy, visceral, 5, autosomal (HTX5)4 --72568677(+) CTGCTC/TCTGCG 2 K E mis1 ese38Minor allele frequency- T:0.01NS EA NA 778
    rs1048941691,2,,4
    CHeterotaxy, visceral, 5, autosomal (HTX5)4 pathogenic172568736(-) GCCGCA/GGCCCC 2 Q R mis10--------
    VAR_0622824
    Heterotaxy, visceral, 5, autosomal (HTX5)4--see VAR_0622822 R C mis40--------
    VAR_0622834
    Heterotaxy, visceral, 5, autosomal (HTX5)4--see VAR_0622832 V F mis40--------
    VAR_0622814
    Heterotaxy, visceral, 5, autosomal (HTX5)4--see VAR_0622812 G R mis40--------
    VAR_0362024
    A colorectal cancer sample4--see VAR_0362022 E K mis40--------
    rs360794851,2
    C--72196306(+) TGAAA-/CTCTGTC 1 -- int10--------
    rs1895655201,2
    --72564605(+) TGGCAA/GTGCTC 1 -- ds50010--------
    rs1179057041,2
    F--72564835(+) AGGGGT/ATTTTG 1 -- ds50011Minor allele frequency- A:0.06NA 120
    rs1396658941,2
    --72564957(+) AGGGCA/GTGTGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NODAL (72191692 - 72207707 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NODAL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv32737CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): NODAL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NODAL
    DNA2.0 Custom Variant and Variant Library Synthesis for NODAL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601265   
    OMIM disorders: 270100  
    UniProtKB/Swiss-Prot: NODAL_HUMAN, Q96S42
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 12 diseases for NODAL:    
    About MalaCards
    nodal-related visceral heterotaxy    dextrocardia with situs inversus    heterotaxy    nodal-related holoprosencephaly
    heterotaxy, visceral, 5    septopreoptic holoprosencephaly    midline interhemispheric variant of holoprosencephaly    ovarian endometriosis
    alobar holoprosencephaly    lobar holoprosencephaly    single median maxillary central incisor    semilobar holoprosencephaly

    1 disease from the University of Copenhagen DISEASES database for NODAL:
    Holoprosencephaly

    Find genes that share disorders with NODAL           About GenesLikeMe

    Genetic Association Database (GAD): NODAL
    Human Genome Epidemiology (HuGE) Navigator: NODAL (85 documents)

    Export disorders for NODAL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NODAL gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with NODAL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. (PubMed id 19064609)1, 2, 4 Mohapatra B.... Ware S.M. (Hum. Mol. Genet. 2009)
    2. X-linked situs abnormalities result from mutations in ZIC3. (PubMed id 9354794)1, 2, 3 Gebbia M.... Casey B. (Nat. Genet. 1997)
    3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells. (PubMed id 15150278)1, 9 Munir S....Peng C. (J. Biol. Chem. 2004)
    9. TGF-I^ promotes glioma cell growth via activating Nodal expression through Smad and ERK1/2 pathways. (PubMed id 24370825)1 Sun J....Liu J.M. (Biochem. Biophys. Res. Commun. 2014)
    10. Nodal promotes invasive phenotypes via a mitogen-activated protein kinase-dependent pathway. (PubMed id 23334323)1 Quail D.F....Postovit L.M. (Oncogene 2014)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4838 HGNC: 7865 AceView: NODAL Ensembl:ENSG00000156574 euGenes: HUgn4838
    ECgene: NODAL Kegg: 4838 H-InvDB: NODAL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NODAL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NODAL gene:
    Search GeneIP for patents involving NODAL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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