NODAL
Nodal Growth Differentiation Factor
Gene Information Card
| Symbol | NODAL |
|---|---|
| Full Name | nodal growth differentiation factor |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 4838 ncbi.nlm.nih.gov/gene/4838 |
| Ensembl ID | ENSG00000156574 |
| UniProt ID | Q96S42 |
| OMIM ID | 601265 |
| HGNC ID | 7865 |
| Aliases | NODAL, NODAL1, NODAL2 |
Description
NODAL encodes a secreted ligand of the TGF-beta superfamily that is critical for mesoderm formation, left-right axis determination, and early embryonic patterning. It signals through type I and type II activin receptors and the co-receptor CRIPTO, activating SMAD2/3 transcription factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heterotaxy, visceral, 5, autosomal | Disrupted left-right axis determination due to NODAL loss-of-function variants | ClinVar, OMIM |
| Holoprosencephaly | Impaired NODAL signaling disrupts forebrain midline development | ClinVar, OMIM |
| Congenital heart disease | NODAL mutations affect cardiac laterality and septation | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 0.3 | Low |
| Testis | 0.1 | Low |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hESC (H1) | 0.0 | Not detected in undifferentiated cells |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.778G>A (p.Gly260Arg) | Missense | Rare | Loss of function; associated with heterotaxy |
| c.1070G>A (p.Arg357His) | Missense | Rare | Loss of function; associated with holoprosencephaly |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that impair ligand secretion, receptor binding, or SMAD signaling.
Gain of Function (GOF)
Not reported in NODAL.
Dominant Negative (DN)
Some missense variants may act dominant-negatively by interfering with wild-type NODAL signaling.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity | • transforming growth factor beta receptor binding |
| • SMAD protein signal transduction | • embryonic morphogenesis |
| • left-right axis specification |
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Signaling by NODAL (Reactome: R-HSA-1181150)
Protein Summary
NODAL is a 347-amino acid secreted protein with a signal peptide, prodomain, and mature TGF-beta domain. It undergoes proteolytic processing to form a dimer that binds to activin receptors (ACVR1B, ACVR2A) and the co-receptor CRIPTO, leading to SMAD2/3 phosphorylation and transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NODAL Knockout HEK293 Cell Line | EDJ-KQ394 | Human | 4838 | Details Get a Quote |
| NODAL Knockout HeLa Cell Line | EDJ-KQ54002 | Human | 4838 | Details Get a Quote |
| NODAL Knockout A-549 Cell Line | EDJ-KQ62495 | Human | 4838 | Details Get a Quote |
| NODAL Knockout HCT 116 Cell Line | EDJ-KQ70962 | Human | 4838 | Details Get a Quote |
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