NODAL Chromosome 10
Nodal growth differentiation factor
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What This Gene Does
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]
Gene Info
Gene Group
Transforming growth factor beta superfamily
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000156574
Associated Conditions (12)
Heterotaxy
visceral
5
autosomal
Inborn genetic diseases
Wolff-Parkinson-White pattern
Visceral heterotaxy
NODAL-related disorder
Holoprosencephaly sequence
Heart
malformation of
Congenitally corrected transposition of the great arteries
Key Variants
RS104894169
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS121909283
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS143903715
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS150819707
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS200445211
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS2132214841
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS2493096439
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS749265748
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 5
Health Risk
RS781366461
Conflicting classifications of pathogenicity
Heart, malformation of, Heart
Health Risk
RS1564667078
Likely pathogenic
Heterotaxy, visceral, 5
Health Risk
RS1564667180
Likely pathogenic
Heterotaxy, visceral, 5
Health Risk
RS1564667617
Likely pathogenic
Heterotaxy, visceral, 5
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894169 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS121909283 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS143903715 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS150819707 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS200445211 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS2132214841 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS2493096439 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS749265748 | Health Risk | Conflicting classifications of pathogenicity | Heterotaxy, visceral, 5 |
| RS781366461 | Health Risk | Conflicting classifications of pathogenicity | Heart, malformation of, Heart |
| RS1564667078 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 5 |
| RS1564667180 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 5 |
| RS1564667617 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 5 |
| RS2493085626 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 5 |
| RS2493087333 | Health Risk | Likely pathogenic | NODAL-related disorder, NODAL-related disorder |
| RS2493095831 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 5 |
| RS555563029 | Health Risk | Likely pathogenic | Visceral heterotaxy, Visceral heterotaxy |
| RS1447874899 | Health Risk | Pathogenic | Heterotaxy, visceral, 5 |
| RS1589152355 | Health Risk | Pathogenic | Heterotaxy, visceral, 5 |
| RS1589152470 | Health Risk | Pathogenic | Heterotaxy, visceral, 5 |
| RS772802856 | Health Risk | Pathogenic | Congenitally corrected transposition of the great arteries, Heterotaxy, visceral |
| RS878855044 | Health Risk | Pathogenic/Likely pathogenic | Heterotaxy, visceral, 5 |