NEDD9

Chr 6

neural precursor cell expressed, developmentally down-regulated 9

Also known as: CAS-L, CAS2, CASL, CASS2, HEF1

NCBI Gene: 4739ENSG00000111859UniProt: Q14511

The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.43
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.126
Z-score 4.18
OE 0.25 (0.15–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.86Z-score
OE missense 0.89 (0.82–0.96)
426 obs / 479.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.25 (0.15–0.43)
0≤0.351.4
Missense OE?0.89 (0.82–0.96)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 9 / 36.1Missense obs/exp: 426 / 479.1Syn Z: 1.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEDD9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients