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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NODAL Gene

protein-coding   GIFtS: 61
GCID: GC10M072191

Nodal Growth Differentiation Factor

(Previous names: nodal, mouse, homolog, nodal homolog (mouse))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nodal Growth Differentiation Factor1 2
Nodal Homolog (Mouse)1
Nodal, Mouse, Homolog1
HTX52
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 nodal-related holoprosencephaly, and among its related super-pathways are Regulation of Signaling by NODAL and Axon guidance. GO annotations related to this gene include growth factor activity and receptor agonist activity. An important paralog of this gene is GDF9.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NODAL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Secreted (By similarity)
Secondary accessions: Q2M3A5 Q8N4V3

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

Explore proteomics data for NODAL at MOPED 

NODAL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NODAL Protein Expression

REFSEQ proteins: NP_060525.3  
ENSEMBL proteins: 
 ENSP00000287139   ENSP00000394468  
Reactome Protein details: Q96S42
Human Recombinant Protein Products for NODAL: 
Browse Purified and Recombinant Proteins at EMD Millipore
R&D Systems Recombinant & Natural Proteins for NODAL
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OriGene Protein Over-expression Lysate for NODAL
OriGene Custom MassSpec 
OriGene Custom Protein Services for NODAL
GenScript Custom Purified and Recombinant Proteins Services for NODAL
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 

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

NODAL for ontologies           About GeneDecksing



NODAL Antibody Products: 
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R&D Systems Antibodies for NODAL
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Abcam antibodies for NODAL
Cloud-Clone Corp. Antibodies for NODAL 
ThermoFisher Antibody for NODAL
LSBio Antibodies in human, mouse, rat for NODAL 

Assay Products for NODAL: 
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Cloud-Clone Corp. ELISAs for NODAL 
Cloud-Clone Corp. CLIAs for NODAL


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

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


NODAL for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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: Definitive Endoderm Cells in Definitive Endoderm, Extraembryonic Ectoderm Cells in Extraembryonic Ectoderm (see all 4).

It affects the following cells: Cardiomyocyte Progenitor Cells in Myocardium, Early Distal Visceral Endoderm Cells in Visceral Endoderm (see all 11).

     Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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--
     
NODAL for ontologies           About GeneDecksing


Phenotypes:
     15/19 MGI mutant phenotypes (inferred from 17 alleles(MGI details for Nodal) (see all 19):
 cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size 
 hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
 muscle  nervous system  no phenotypic analysis  normal  other 

NODAL for phenotypes           About GeneDecksing

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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for NODAL 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NODAL

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NODAL 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NODAL 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NODAL
8/17 QIAGEN miScript miRNA 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:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for NODAL
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NODAL

Gene Editing
Products:
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Sirion Biotech Customized adenovirus for overexpression of NODAL

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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
Sirion Biotech Customized lentivirus for stable overexpression of NODAL 
                     Customized lentivirus expression plasmids for stable overexpression of NODAL 

Cell Line
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GenScript Custom overexpressing Cell Line Services for NODAL
Search LifeMap BioReagents cell lines for NODAL
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NODAL


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for NODAL About   (see all 7)                                                                                              See pathways by source

SuperPathContained pathways About
1Signaling by NODAL
Signaling by NODAL0.56
Regulation of Signaling by NODAL0.56
2Axon guidance
Developmental Biology0.69
3PKA activation in glucagon signalling
Development Role of Activin A in cell differentiation and proliferation0.33
4TGF-beta signaling pathway
TGF-beta signaling pathway
5Selected targets of Oct-3/4
Selected targets of Oct-3/4

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

2 EMD Millipore Pathways for NODAL
    Development Role of Activin A in cell differentiation and proliferation
Selected targets of Oct-3/4


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


3        Reactome Pathways for NODAL
    Developmental Biology
Signaling by NODAL
Regulation of Signaling by NODAL


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


NODAL for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NODAL

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/16 Interacting proteins for NODAL (Q96S423 ENSP000002871394) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
InteractantInteraction Details
GeneCardExternal ID(s)
CFC1P0CG373I2D: score=1 
ACVR1BENSP000002579634STRING: ENSP00000257963
ACVR1CENSP000002433494STRING: ENSP00000243349
ACVR2AENSP000002414164STRING: ENSP00000241416
ACVR2BENSP000003403614STRING: ENSP00000340361
About this table

Gene Ontology (GO): 5/68 biological process terms (GO ID links to tree view) (see all 68):    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 ----

NODAL for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NODAL for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about NODAL

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NODAL
8/17 QIAGEN miScript miRNA 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:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for NODAL
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat 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)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NODAL
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NODAL
Sirion Biotech Customized lentivirus for stable overexpression of NODAL 
                     Customized lentivirus expression plasmids for stable overexpression of NODAL 
Primer
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OriGene qPCR primer pairs and template standards for NODAL
OriGene qSTAR qPCR primer pairs in human, mouse for NODAL
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NODAL
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NODAL

Additional mRNA sequence: 

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

3 DOTS entries:

DT.75101266  DT.91742107  DT.439232 

24/29 AceView cDNA sequences (see all 29):

AI050866 AA974190 BC039861 NM_018055 BC033585 Z40004 AA935262 BX093399 
BF195158 AI670948 AI955053 BI522732 AW304059 BG220990 AI653393 AI992341 
AI653009 AA866159 BM563257 BG198625 AW510847 AA807376 AI918761 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NODAL expression in normal human tissues (normalized intensities)      NODAL embryonic expression: see
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 
 5/13 selected tissues (see all 13) fully expand
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 8 entries
         Inner Cell Mass Cells Inner Cell Mass
         Line H1 (WA01)
 
 Epiblast (Early Embryonic Tissues)    fully expand to see all 7 entries
         Intraembryonic Epiblast Cells Epiblast
         Epiblast Stem Cells
 
 Primitive Streak (Early Embryonic Tissues)    fully expand to see all 6 entries
         Primitive Node Cells Primitive Node
         Primitive streak-like cells ( Generation of endoderm cells and pancreatic progenitor...
 
 Hypoblast (Extraembryonic Tissues)    fully expand to see all 3 entries
         Anterior Visceral Endoderm Cells Extraembryonic Visceral Endoderm
 
 Yolk Sac (Extraembryonic Tissues)    fully expand to see all 3 entries
         Anterior Visceral Endoderm Cells Extraembryonic Visceral Endoderm

See NODAL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NODAL

SOURCE GeneReport for Unigene cluster: Hs.370414
    SABiosciences Expression via Pathway-Focused 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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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NODAL
QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NODAL gene from 6/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nodal1 , 5 nodal1, 5 82.66(n)1
81.21(a)1
  10 (32.21 cM)5
181191  NM_013611.41  NP_038639.21 
 614179725 
chicken
(Gallus gallus)
Aves NODAL6
Uncharacterized protein
32(a)
1 ↔ 1
22(2253832-2256437)
lizard
(Anolis carolinensis)
Reptilia NODAL6
Uncharacterized protein
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 
worm
(Caenorhabditis elegans)
Secernentea dbl-16
Protein DBL-1
24(a)
1 → many
V(6758135-6760409)


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)
About This Section
Paralogs for NODAL gene
GDF92  GDF152  BMP152  
6 SIMAP similar genes for NODAL using alignment to 2 protein entries:     NODAL_HUMAN (see all proteins):
BMP8A    GDF5    BMP3    DKFZp686A06204    INHA    BMPY

NODAL for paralogs           About GeneDecksing



(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/276 SNPs in NODAL are shown (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
----------
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--------
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--------
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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 19 diseases for NODAL:    About MalaCards
    nodal-related visceral heterotaxy    nodal-related holoprosencephaly    heterotaxy, visceral, 5    dextrocardia
    visceral heterotaxy    heterotaxy    holoprosencephaly    situs inversus
    ventricular septal defect    congenital heart defect    ovarian cancer    alzheimer's disease
    melanoma    prostate cancer    pancreatic cancer    prostatitis
    endotheliitis    pancreatitis    breast cancer

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

    NODAL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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)
    About This Section

    PubMed articles for NODAL gene, integrated from 9 sources (see all 69):
    (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. (2009)
    2. X-linked situs abnormalities result from mutations in ZIC3. (PubMed id 9354794)1, 2, 3 Gebbia M.... Casey B. (1997)
    3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (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. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (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. (2004)
    8. Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells. (PubMed id 15150278)1, 9 Munir S....Peng C. (2004)
    9. Role of Lefty in the anti tumor activity of human adul t liver stem cells. (PubMed id 22469982)1 Cavallari C....Camussi G. (2013)
    10. MicroRNA-376c impairs transforming growth factor-b and nodal signaling to promote trophoblast cell proliferation and invasion. (PubMed id 23424236)1 Fu G....Peng C. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4838 HGNC: 7865 AceView: NODAL Ensembl:ENSG00000156574 euGenes: HUgn4838
    ECgene: NODAL Kegg: 4838 H-InvDB: NODAL

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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