NEDD9 (Neural Precursor Cell Expressed, Developmentally Down-Regulated 9)
A scaffold protein involved in cell adhesion, migration, and signaling, with implications in cancer progression and metastasis.
Gene Information Card
| Symbol | NEDD9 |
|---|---|
| Full Name | Neural Precursor Cell Expressed, Developmentally Down-Regulated 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.2 |
| NCBI Gene ID | 4738 ncbi.nlm.nih.gov/gene/4738 |
| Ensembl ID | ENSG00000111859 |
| UniProt ID | Q14511 |
| OMIM ID | 602265 |
| HGNC ID | 7733 |
| Aliases | HEF1, CAS-L, CAS2, dJ49G10.2 |
Description
NEDD9 (Neural Precursor Cell Expressed, Developmentally Down-Regulated 9) encodes a scaffold protein of the Cas family. It localizes to focal adhesions and regulates cell adhesion, migration, and survival by integrating signals from integrins and growth factor receptors. NEDD9 is implicated in embryonic development, immune cell function, and cancer metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or amplification promotes cell migration, invasion, and metastasis via FAK/Src signaling. | NCBI Gene, COSMIC |
| Breast cancer | NEDD9 upregulation correlates with poor prognosis and increased metastatic potential. | ClinVar, PubMed |
| Lung cancer | NEDD9 amplification and overexpression drive tumor progression and resistance to therapy. | COSMIC, PubMed |
| Melanoma | NEDD9 expression enhances invasive capacity and is associated with metastatic spread. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Lung | 7.1 | Low |
| Breast | 6.5 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | High expression |
| MCF7 | 8.5 | Moderate expression |
| A549 | 7.2 | Moderate expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <1% | Unknown functional impact; rare variant |
| c.789_790insC | Frameshift | <0.5% | Predicted loss of function |
| Amplification (6p24.2) | Copy number gain | 5-10% in cancers | Associated with increased NEDD9 expression and metastasis |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein, impairing scaffold function and focal adhesion signaling.
Gain of Function (GOF)
Gene amplification or overexpression leading to enhanced cell migration and invasion.
Dominant Negative (DN)
Not well characterized; some missense variants may disrupt protein-protein interactions without complete loss.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Focal adhesion pathway (KEGG: hsa04510)
• Integrin signaling pathway
• ErbB signaling pathway
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
NEDD9 (HEF1) is a 834-amino acid scaffold protein containing an N-terminal SH3 domain, a central substrate domain with multiple YxxP motifs, and a C-terminal focal adhesion targeting (FAT) domain. It interacts with FAK, Src, and Crk to regulate cell adhesion and migration. Phosphorylation by Src family kinases modulates its activity and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEDD9 Knockout HEK293 Cell Line | EDJ-KQ3677 | Human | 4739 | Details Get a Quote |
| NEDD9 Knockout A-549 Cell Line | EDJ-KQ24288 | Human | 4739 | Details Get a Quote |
| NEDD9 Knockout HeLa Cell Line | EDJ-KQ25662 | Human | 4739 | Details Get a Quote |
| NEDD9 Knockout HCT 116 Cell Line | EDJ-KQ70937 | Human | 4739 | Details Get a Quote |
