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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NODAL
nodal growth differentiation factor
Chromosome 10 · 10q22.1
NCBI Gene: 4838Ensembl: ENSG00000156574.10HGNC: HGNC:7865UniProt: Q96S42
131PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of vascular endothelial growth factor productioncytokine activityprotein bindingpositive regulation of transcription by RNA polymerase IIheterotaxy, visceral, 5, autosomalvisceral heterotaxyHeterotaxiaSitus inversus totalis
✦AI Summary

NODAL is a TGFβ superfamily morphogen essential for embryonic patterning and mesoderm specification 1. It signals through Activin type II receptors (ActRIIA/ActRIIB) and type I receptors (ALK4/ALK7), activating Smad2/3-dependent transcription to regulate tissue-specific developmental processes 2. During early development, NODAL establishes left-right asymmetry and cardiac laterality through asymmetric activation in the lateral plate mesoderm, directing Pitx2 expression that patterns visceral organ asymmetry 3. NODAL coordinates multiple developmental mechanisms including concentration-dependent morphogenic signaling, feedback regulation, and interaction with other pathways like Notch3 4. In placental development, NODAL regulates trophoblast invasion, vascularization, and immune tolerance through TGFβ superfamily interactions 5. Notably, pre-implantation pluripotency maintenance in human epiblasts occurs independently of NODAL signaling, contrasting with hESC culture requirements 6. Disease-relevant re-expression of NODAL occurs in adult cancers: in colorectal cancer, NODAL promotes ferroptosis resistance via SCD1-mediated lipid desaturation and Smad2/3 activation, correlating with metastasis 7; in oral squamous cell carcinoma, NODAL co-expression with Cripto-1 associates with advanced disease and invasiveness 8. Heterotaxy mutations in NODAL cause laterality defects, emphasizing its clinical importance in congenital heart disease pathogenesis 4.

Sources cited
1
NODAL is a TGFβ family morphogen regulating mesoderm/endoderm specification, body patterning, left-right asymmetry, and pluripotency
PMID: 40780968
2
NODAL signals through ActRIIA/ActRIIB type II receptors and ALK4/ALK7 type I receptors, activating Smad2/3 proteins
PMID: 17616715
3
NODAL establishes left-right asymmetry and cardiac laterality through asymmetric activation in lateral plate mesoderm and Pitx2 expression
PMID: 38884711
4
Notch3 is asymmetrically expressed downstream of NODAL and modifies heart looping defects in NODAL mutants
PMID: 40163542
5
NODAL as a TGFβ superfamily member regulates placental development including trophoblast invasion, vascularization, and immune tolerance
PMID: 38519450
6
Pre-implantation human epiblast pluripotency initiation and maintenance occurs independently of NODAL signaling
PMID: 39561779
7
NODAL promotes colorectal cancer survival and metastasis through SCD1-mediated ferroptosis resistance via Smad2/3 activation
PMID: 37002201
8
NODAL co-expresses with Cripto-1 in oral squamous cell carcinoma and correlates with advanced-stage disease and invasiveness
PMID: 32916013
Disease Associationsⓘ21
heterotaxy, visceral, 5, autosomalOpen Targets
0.78Strong
visceral heterotaxyOpen Targets
0.68Moderate
HeterotaxiaOpen Targets
0.66Moderate
Situs inversus totalisOpen Targets
0.40Weak
congenital heart diseaseOpen Targets
0.40Weak
Abnormal heart morphologyOpen Targets
0.38Weak
alobar holoprosencephalyOpen Targets
0.37Weak
lobar holoprosencephalyOpen Targets
0.37Weak
microform holoprosencephalyOpen Targets
0.37Weak
midline interhemispheric variant of holoprosencephalyOpen Targets
0.37Weak
semilobar holoprosencephalyOpen Targets
0.37Weak
septopreoptic holoprosencephalyOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
Wolff-Parkinson-White SyndromeOpen Targets
0.33Weak
nervous system diseaseOpen Targets
0.23Weak
holoprosencephalyOpen Targets
0.20Weak
neurodegenerative diseaseOpen Targets
0.14Weak
Cardiac shuntOpen Targets
0.13Weak
situs inversusOpen Targets
0.12Weak
congenitally corrected transposition of the great arteriesOpen Targets
0.12Weak
Heterotaxy, visceral, 5, autosomalUniProt
Pathogenic Variants16
NM_018055.5(NODAL):c.824G>A (p.Arg275His)Likely pathogenic
not provided|Visceral heterotaxy|Heterotaxy, visceral, 5, autosomal
★★☆☆2025→ Residue 275
NM_018055.5(NODAL):c.891+1G>APathogenic
Heterotaxy, visceral, 5, autosomal|not provided
★★☆☆2023
NM_018055.5(NODAL):c.709C>T (p.Arg237Ter)Likely pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2025→ Residue 237
NM_018055.5(NODAL):c.735del (p.Gln245fs)Likely pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2024→ Residue 245
NM_018055.5(NODAL):c.408dup (p.Phe137fs)Likely pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2024→ Residue 137
NM_018055.5(NODAL):c.110C>A (p.Ser37Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 37
NM_018055.5(NODAL):c.317_318dup (p.Gly107fs)Pathogenic
not provided
★☆☆☆2023→ Residue 107
NM_018055.5(NODAL):c.158_165del (p.Pro53fs)Likely pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2023→ Residue 53
NM_018055.5(NODAL):c.891+2T>ALikely pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2022
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter)Pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2021→ Residue 133
NM_018055.5(NODAL):c.555del (p.Thr186fs)Pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2020→ Residue 186
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter)Pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2019→ Residue 197
NM_018055.5(NODAL):c.446del (p.Gly149fs)Pathogenic
Heterotaxy, visceral, 5, autosomal
★☆☆☆2018→ Residue 149
NM_018055.5(NODAL):c.253C>T (p.Gln85Ter)Likely pathogenic
NODAL-related disorder
★☆☆☆→ Residue 85
NM_018055.5(NODAL):c.700_707del (p.Arg234fs)Likely pathogenic
Heterotaxy, visceral, 5, autosomal
☆☆☆☆2018→ Residue 234
NM_018055.5(NODAL):c.194-1G>TLikely pathogenic
Heterotaxy, visceral, 5, autosomal
☆☆☆☆2018
View on ClinVar ↗
Related Genes
TGFBR1Protein interaction99%ACVR1BProtein interaction98%ACVR2AProtein interaction98%ACVR2BProtein interaction98%GDF1Protein interaction98%INHBAProtein interaction98%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
60%
Lung
55%
Ovary
55%
Liver
12%
Heart
9%
Gene Interaction Network
Click a node to explore
NODALTGFBR1ACVR1BACVR2AACVR2BGDF1INHBA
PROTEIN STRUCTURE
Preparing viewer…
PDB4N1D · 1.91 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.16Tolerant
Observed/Expected LoF0.45 [0.26–0.85]
RankingsWhere NODAL stands among ~20K protein-coding genes
  • #3,570of 20,598
    Most Researched131 · top quartile
  • #2,393of 5,498
    Most Pathogenic Variants16
  • #7,435of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedNODAL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TGFβ signalling: a nexus between inflammation, placental health and preeclampsia throughout pregnancy.
PMID: 38519450
Hum Reprod Update · 2024
1.00
2
Nodal Signaling: A Paradigm for TGFβ Signaling in Embryonic Development.
PMID: 40780968
Annu Rev Cell Dev Biol · 2025
0.90
3
Nodal promotes colorectal cancer survival and metastasis through regulating SCD1-mediated ferroptosis resistance.
PMID: 37002201
Cell Death Dis · 2023
0.80
4
Nodal signalling and apoptosis.
PMID: 17616715
Reproduction · 2007
0.70
5
Notch3 is an asymmetric gene and a modifier of heart looping defects in Nodal mouse mutants.
PMID: 40163542
PLoS Biol · 2025
0.60