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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NODAL Gene

protein-coding GIFtS: 60
GCID: GC10M072191

nodal growth differentiation factor

(Previous names: nodal, mouse, homolog, nodal homolog (mouse) )

Explore 16 diseases affiliated with
NODAL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
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:

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)

UniProtKB/Swiss-Prot: NODAL_HUMAN, Q96S42

Function: Essential for mesoderm formation and axial patterning during embryonic development (By similarity)

Gene Wiki entry for NODAL

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 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 plasmid: NODAL 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

NODAL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060525.3

ENSEMBL proteins:

ENSP00000287139 ENSP00000394468

Reactome Protein details: Q96S42
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for NODAL
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	Novus Biologicals NODAL Protein Novus Biologicals NODAL Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NODAL

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	--	--
GO:0005615	extracellular space	IDA	--

NODAL for ontologies About GeneDecksing

NODAL Antibody Products:

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	GenScript Custom Assay Services for NODAL
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NODAL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NODAL for domains About GeneDecksing

4 InterPro domains/families:

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 families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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: Cardiomyocytes Progenitor Cells in Myocardium, Early Distal Visceral Endoderm Cells in Visceral Endoderm (see all 11).

miRNA Products:		OriGene 3'-UTR Clone: NODAL Browse MicroRNA Expression Plasmids
		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 plasmid: NODAL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NODAL (see all 7) OriGene shRNA RFP: NODAL OriGene siRNA: NODAL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NODAL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NODAL

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NODAL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, 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)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NODAL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NODAL

Cell Line Products:		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

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005125	cytokine activity	IEA	--
GO:0005515	protein binding	--	--
GO:0008083	growth factor activity	IEA	--
GO:0016015	morphogen activity	NAS	--
GO:0048018	receptor agonist activity	IEA	--

NODAL for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for NODAL: Nodal^tm2Rob Nodal^tm1.1Hmd Nodal^tm1Hmd Nodal^tm3Rob Nodal^tm4Rob Nodal^tm1.2Rob
                                               Nodal^tm1.1Rob Nodal^tm6Rob Nodal^tm1.1Mku
     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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by NODAL

Signaling by NODAL

1.00

Regulation of Signaling by NODAL

0.56

Integrated Pancreatic Cancer Pathway

Integrated Pancreatic Cancer Pathway

1.00

Integrated Pancreatic Cancer Pathway

0.99

PKA activation in glucagon signalling

Development_Role of Activin A in cell differentiation and proliferation

0.33

Development Role of Activin A in cell differentiation and proliferation

0.33

Selected targets of Oct-3/4

Selected targets of Oct-3/4

1.00

TGF-beta signaling pathway

TGF-beta signaling pathway

1.00

Pathway sources
See GeneCards unified pathways
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

	Integrated Pancreatic Cancer Pathway
	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 Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CFC1	P0CG37³	I2D: score=1
ACVR1B	ENSP00000257963⁴	STRING: ENSP00000257963
ACVR1C	ENSP00000243349⁴	STRING: ENSP00000243349
ACVR2A	ENSP00000241416⁴	STRING: ENSP00000241416
ACVR2B	ENSP00000340361⁴	STRING: ENSP00000340361

About this table

Gene Ontology (GO): 5/70 biological process terms (GO ID links to tree view) (see all 70): About this table

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	--	--

NODAL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 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,
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, 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:		OriGene 3'-UTR Clone: NODAL Browse OriGene MicroRNA Expression Plasmids
		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 plasmid: NODAL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NODAL (see all 7) OriGene shRNA RFP: NODAL OriGene siRNA: NODAL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NODAL

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NODAL (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, 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

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NODAL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NODAL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NODAL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NODAL

Additional cDNA 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):

BF195158 AI050866 AA935262 NM_018055 BX093399 BC033585 AA974190 BC039861

Z40004 BG220990 AW510847 AA866159 AA807376 AI670948 AW304059 AI653009

BM563257 AI955053 AI918761 BG198625 AI653393 AI992341 BI522732 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

NODAL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Hypoblast

Extraembryonic Visceral Endoderm

Anterior Visceral Endoderm Cells

Extraembryonic Tissues, Yolk Sac

Early Embryo

Early Embryo

Intraembryonic Epiblast Cells

Early Embryo

Gut Tube

Primitive Gut Endoderm Cells

Endoderm

Hypoblast

Extraembryonic Visceral Endoderm

Distal Visceral Endoderm Cells

Extraembryonic Tissues, Yolk Sac

Hypoblast

Visceral Endoderm

Early Distal Visceral Endoderm Cells

Extraembryonic Tissues, Yolk Sac

Inner Cell Mass

Inner Cell Mass Cells

Early Embryo

Primitive Streak

Anterior Primitive Streak

Anterior Primitive Streak Cells

Early Embryo

Primitive Streak

Prechordal Plate

Prechordal Plate Cells

Early Embryo

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/15 LifeMap Cells (see all 15)

Name

Category

Induced pluripotent stem cell line 201B6 (Induced Pluripotent Stem Cell)

Early Embryo, Fibroblast

Induced pluripotent stem cells (using UTF1) (Induced Pluripotent Stem Cell)

Early Embryo, Fibroblast

Epiblast Stem Cells (Fetal Stem / Progenitor Cell)

Early Embryo

Line H1 (WA01) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

HSF-1 (UC01) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Primitive streak-like cells (Generation of endode...)

Anterior neural specified EBs (Differentiation of h...)

Mesendodermal-like cells (Differentiation of c...)

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 Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NODAL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NODAL
		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 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NNM1_CHICK⁶	Uncharacterized protein	33(a)	1 ↔ 1	22(2293800-2294762)
lizard (Anolis carolinensis)	Reptilia	NODAL⁶	--	33(a)	1 ↔ 1	3(50919784-50930967)
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	unc-129⁶	UNCoordinated family member (unc-129)	14(a)	1 ↔ 1	IV(9002822-9005402)

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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894169^1,2	C,	pathogenic	66189225(-)	`GCCGCA/GGCCCC`	2	Q R	mis¹		0	--	--	--	--
rs61471190^1,2	F,	--	66185470(+)	`TAGCAA/GGCTTT`	1	--	ds500¹		1		WA	118
rs79591014^1,2		--	66185581(+)	`AATGCA/GTTAGG`	1	--	ut3¹		1		NA	120
rs58468830^1,2	C,F,	--	66185646(+)	`GGTCGC/TACAGC`	1	--	ut3¹		1		WA	118
rs80138796^1,2	C,F,	--	66186053(+)	`TTGACG/AGACTC`	1	--	ut3¹		1		WA	118
rs77232076^1,2	C,F,	--	66186128(+)	`GGAGAA/GTACAT`	1	--	ut3¹		1		WA	118
rs12269360^1,2	H	--	66186405(+)	`CTTCAG/ATTCTG`	1	--	ut3¹ ese³		4		NS EA	416
rs76889088^1,2	C,F,	--	66186470(+)	`TCATGT/ACTTCC`	1	--	ut3¹		1		WA	118
rs113057443^1,2		--	66186770(+)	`GTTACG/AGAGTT`	1	--	int¹		1		CSA	2
rs72809270^1,2		--	66187572(+)	`GTGGGC/TGATGA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NODAL (72191692 - 72207707 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NODAL
1 CNV: 6879
Human Gene Mutation Database (HGMD): NODAL

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

NODAL for disorders           About GeneDecksing

OMIM gene information: 601265
OMIM disorders: 270100
UniProtKB/Swiss-Prot: NODAL_HUMAN, Q96S42

Defects in NODAL are the cause of visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]. A form of visceral

heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It

results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of

visceral heterotaxy autosomal type 5 include situs inversus viscerum or situs ambiguus, congenital heart defect,

transposition of the great vessels ventricular septal defect, atrial septal defect, truncuscommunis, and dextrocardia

16 diseases for NODAL: About MalaCards

heterotaxy, visceral, 5 heterotaxy situs ambiguus visceral heterotaxy

situs inversus dextrocardia epithelial ovarian cancer holoprosencephaly

ovarian cancer endometrial cancer alzheimer's disease prostate cancer

prostatitis melanoma pancreatitis neuronitis

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

Holoprosencephaly

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 9 sources (see all 64):
(articles sorted by number of sources associating them with NODAL)

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X-linked situs abnormalities result from mutations in ZIC3. (PubMed id 9354794)^{1, 2, 3} Gebbia M.... Casey B. (1997)
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. (PubMed id 19064609)^{1, 2} Mohapatra B....Ware S.M. (2009)
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)
Nodal and ALK7 inhibit proliferation and induce apoptosis in human trophoblast cells. (PubMed id 15150278)^{1, 9} Munir S....Peng C. (2004)
Embryonic protein nodal promotes breast cancer vascula rization. (PubMed id 22855743)¹ Quail D.F....Postovit L.M. (2012)
Nodal expression and detection in cancer: experience a nd challenges. (PubMed id 22508696)¹ Strizzi L....Hendrix M.J. (2012)
Developmental effects of tobacco smoke exposure during human embryonic stem cell differentiation are mediated through the transforming growth factor-b superfamily member, Nodal. (PubMed id 22381624)¹ Liszewski W....Bernstein H.S. (2012)
Endogenous Nodal signaling regulates germ cell potency during mammalian testis development. (PubMed id 23034635)¹ Spiller C.M....Bowles J. (2012)
MicroRNA-378a-5p promotes trophoblast cell survival, m igration and invasion by targeting Nodal. (PubMed id 22454525)¹ Luo L....Peng C. (2012)
Novel mutations of NODAL gene in Chinese patients with congenital heart disease. (PubMed id 22352765)¹ Sun L....Ma X. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NODAL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NODAL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NODAL gene:
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