Gene
NODAL
nodal growth differentiation factor
- HGNC 7865↗(opens in a new tab)
- Ensembl gene ENSG00000156574↗(opens in a new tab)
- NCBI Gene 4838↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q22.1
- Coordinates
- Chromosome 10: 70,431,936–70,441,681 (GRCh38)
- Exons
- 3 exons across 9.7 kb
- Protein
- 347 amino acids
- MANE Select transcript
- ENST00000287139.8NM_018055.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Heterotaxy & Laterality Defects
- Congenital Heart Disease with Heterotaxy
Heart defects present at birth that occur together with variable left-right patterning defects of other organs.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
- Visceral Heterotaxy
Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.
How NODAL is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.1 kb of the gene's 9.7 kb; 1,044 of those bases code for the protein.
How a genome test reads NODAL
13
positions in NODAL where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 9.7 kb of NODAL, introns included, not only the 2.1 kb of exons.
Genes linked to the same conditions
- ZIC3Zic family zinc finger 3Shares 2 conditions
- ACVR2Bactivin A receptor type 2BShares 1 condition
- CFAP53cilia and flagella associated protein 53Shares 1 condition
- CFC1cryptic, EGF-CFC family member 1Shares 1 condition
- CIROPciliated left-right organizer metallopeptidaseShares 1 condition
- DAW1dynein assembly factor with WD repeats 1Shares 1 condition
- GDF1growth differentiation factor 1Shares 1 condition
- MMP21matrix metallopeptidase 21Shares 1 condition
- MNS1meiosis specific nuclear structural 1Shares 1 condition
- PKD1L1polycystin 1 like 1, transient receptor potential channel interactingShares 1 condition
Traits linked to NODAL
The Human Phenotype Ontology lists these as features of the rare conditions NODAL can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal central motor function
- Abnormal corpus callosum morphology
- Abnormal morphology of the olfactory bulb
- Abnormal shape of brainstem
- Abnormal shape of midbrain
- Abnormality of the autonomic nervous system
- Absent speech development
- Anxiety
Show 30 more traits
- Aplasia of the falx cerebri
- Attention deficit
- Behavioral abnormality
- Communication delay
- Depression
- Epilepsy
- Impulsivity
- Inability to walk
- Intellectual disability
- Irritability
- Lack of feeling, emotion, interest
- Lethargy
- Limb dystonia
- Neural tube defect
- Oromotor apraxia
- Poor speech
- Short attention span
- Sleep-wake cycle disturbance
- Specific learning disability
- Abnormal septum pellucidum morphology
- Agenesis of corpus callosum
- Degeneration of cerebellum
- Degeneration of cerebrum
- Enlarged brain
- Holoprosencephaly
- Hypoplasia of the pons
- Perisylvian polymicrogyria
- Rhombencephalosynapsis
- Too much cerebrospinal fluid in the brain
- Small cerebellum
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Dextrotransposition of the great arteries
- Heart tip and four chambers point towards right side of body
- Hole in heart wall separating two lower heart chambers
- Pulmonary artery atresia
- Single ventricle
- Abnormal cardiovascular system morphology
- Abnormal heart rate variability
Show 14 more traits
- Abnormality of the heart
- Absent spleen
- Atrial reentry tachycardia
- Bulging of wall of large artery located above heart
- Double inlet left ventricle
- Double outlet right ventricle
- Hole in center of heart
- Narrowing of aorta
- Partial anomalous pulmonary venous return
- Patent ductus arteriosus
- Right atrial isomerism
- Strawberry mark
- Tetralogy of Fallot
- Total anomalous pulmonary venous return
Abnormality of the endocrine system
- Abnormal hypothalamus physiology
- Abnormality of the endocrine system
- Anterior hypopituitarism
- Central diabetes insipidus
- Diabetes insipidus
- Early onset of puberty
- Central hypothyroidism
- Decreased response to growth hormone stimulation test
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NODAL gene: nodal growth differentiation factor. Retrieved 17 October 2026, from https://dantelabs.com/genes/nodal
Dante Labs. NODAL gene: nodal growth differentiation factor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nodal
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