NODAL - nodal growth differentiation factor Gene

Also Known as HTX5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4838

About NODAL

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,431,936-70,447,951 (from NCBI)

This gene has 2 transcripts (splice variants), 105 orthologues, 31 paralogues and is associated with 10 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]

NODAL Products (2)

mRNA	Protein	Name
NM_001329906.2	NP_001316835.1	nodal homolog isoform 2
NM_018055.5	NP_060525.3	nodal homolog isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables type I activin receptor binding	IMP IMP: Inferred from mutant phenotype	21356369	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in endodermal cell differentiation	IMP IMP: Inferred from mutant phenotype	21741376	GOA
involved in mesendoderm development	IMP IMP: Inferred from mutant phenotype	21741376	GOA
involved in negative regulation of androgen receptor signaling pathway	IDA IDA: Inferred from direct assay	21656830	GOA
involved in negative regulation of chorionic trophoblast cell proliferation	IDA IDA: Inferred from direct assay	15150278	GOA
involved in negative regulation of trophoblast cell migration	IDA IDA: Inferred from direct assay	21356369	GOA
involved in placenta development	IMP IMP: Inferred from mutant phenotype	21356369	GOA
involved in positive regulation of DNA-binding transcription factor activity	IMP IMP: Inferred from mutant phenotype	21116837	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	21116837	GOA
involved in positive regulation of SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	21741376	GOA
involved in positive regulation of activin receptor signaling pathway	IGI IGI: Inferred from genetic interaction	15150278	GOA
involved in positive regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	21116837	GOA
involved in positive regulation of cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	21116837	GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	15150278	GOA
involved in positive regulation of epithelial cell proliferation	IDA IDA: Inferred from direct assay	21656830	GOA
involved in positive regulation of vascular endothelial growth factor production	IMP IMP: Inferred from mutant phenotype	21116837	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in extracellular space	IDA IDA: Inferred from direct assay	21656830	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NODAL Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
347 a.a.

Protein Preferred Names	Protein Names
nodal homolog

NODAL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	NODAL	Q96S42	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Array	32296183
Intra	NODAL	Q96S42	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
Intra	NODAL	Q96S42	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NODAL Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P700025AF	Animal-Free Nodal Protein, Human (His)	Q96S42 (H238-L347)	≥ 95%, as determined by reducing SDS-PAGE.

NODAL Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P81665	Nodal Antibody (YA1410)	WB, FC	Human, Rat
HY-P81665A	Nodal Antibody (YA1410)(PBS only)	WB, FC	Human, Rat

Related Diseases

Diseases	Alias
Heterotaxy, Visceral, 5, Autosomal	HTX5 Heterotaxy, Visceral, 5 Visceral Heterotaxy 5, Autosomal Situs Inversus Viscerum, Formerly Siv, Formerly Situs Inversus Viscerum Siv Heterotaxy, Visceral, Autosomal, Type 5
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Pattern Wpw Syndrome Anomalous Atrioventricular Excitation Anomalous A-V Excitation Ventricular Pre-Excitation With Arrhythmia WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Heart, Malformation Of
Microform Holoprosencephaly	Hpe, Minor Form Hpe-L Holoprosencephaly, Minor Form Holoprosencephaly-Like Microform Hpe
Septopreoptic Holoprosencephaly	Septopreoptic Hpe
Midline Interhemispheric Variant Of Holoprosencephaly	Mih Mih Type Hpe Mihf Mihv Middle Interhemispheric Fusion Variant Middle Interhemispheric Variant Of Holoprosencephaly Syntelencephaly
Dextrocardia With Situs Inversus	Situs Inversus Totalis Complete Situs Inversus Complete Situs Inversus Viscerum Situs Inversus
Lobar Holoprosencephaly
Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Dextrocardia	Heart Predominantly In Right Hemithorax Heart In Right Chest Right-Sided Heart Congenital Dextrocardia Of Heart Transposition Of Heart
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Spermatogenic Failure 6	Globozoospermia SPGF6 Round-Headed Spermatozoa Acrosome Malformation Of Spermatozoa Spermatogenic Failure 9 Spermatozoa, Round-Headed Globozoospermia, Complete Globozoospermia, Total Mae Infertility Due To Round-Headed Spermatozoa Male Infertility Due To Globozoospermia Male Infertility Due To Round-Headed Spermatozoa Round-Headed Sperm Syndrome Spgf9 Teratozoospermia
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Solitary Median Maxillary Central Incisor	SMMCI Fused Incisors Single Upper Central Incisor Single Central Maxillary Incisor Single Median Maxillary Central Incisor Solitary Median Maxillary Central Incisor Syndrome Incisors Fused Incisors, Fused
Patau Syndrome	Trisomy 13 Complete Trisomy 13 Syndrome Trisomy 13 Syndrome D1 Trisomy Patau'S Syndrome Complete Trisomy 13 Chromosome 13, Trisomy 13 Complete D Trisomy Syndrome Bartholin-Patau Syndrome Chromosome 13 Duplication D1 Trisomy Syndrome D>1< Trisomy Syndrome Patau Chromosome 13 Trisomy Abnormal Autosomes 13
Total Anomalous Pulmonary Venous Return 1	Scimitar Syndrome Total Anomalous Pulmonary Venous Return Anomalous Pulmonary Venous Return Scimitar Anomaly TAPVR1 Apvr Halasz Syndrome Hypogenetic Lung Syndrome Pulmonary Venolobar Syndrome TAPVR Congenital Total Pulmonary Venous Return Anomaly Congenital Venolobar Syndrome Mirror-Image Lung Syndrome Vena Cava Bronchovascular Syndrome Pulmonary Venous Return Anomaly Congenital Pulmonary Venolobar Syndrome Epibronchial Right Pulmonary Vein Syndrome
Right Atrial Isomerism	Ivemark Syndrome Asplenia With Cardiovascular Anomalies RAI Asplenia Syndrome Asplenia Right Isomerism Splenic Agenesis Syndrome Bilateral Right-Sidedness Sequence Right Sided Atrial Isomerism Isomerism Of Right Atrial Appendage Heterotaxy, Visceroatrial, Autosomal Recessive Polyasplenia Vah, Autosomal Recessive Atrial Isomerism, Right Congenital Absence Of Spleen Bilateral Right-Sidedness
Duodenal Atresia	Duodenal Stenosis Familial Duodenal Atresia
Pancreas, Annular	Annular Pancreas Pancreas Annulare Congenital Annular Pancreas
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-A0016	Dronedarone		99.93%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-106577	Cibenzoline		95.08%	Phase 4

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-10432	A 83-01	Inhibitor	99.41%	Unkown
HY-10432R	A 83-01 (Standard)	Inhibitor	/	Unkown
HY-10321G	PD173074 (GMP)	Inhibitor	/	Unkown
HY-180334	S-312	Antagonist	/	Unkown
HY-RS09409	NODAL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-123196	CVT-2759	Inhibitor	/	Unkown
HY-RS19222	Nodal Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25711	Nodal Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NODAL	RGD	RGD:1305994
Mus musculus	NODAL	MGD	MGI:97359
Felis catus	NODAL	VGNC	VGNC:68511
Macaca mulatta	NODAL	VGNC	VGNC:106082
Canis familiaris	NODAL	VGNC	VGNC:43879
Bos taurus	NODAL	VGNC	VGNC:32152
Others	NODAL	NCBI