FNDC1

Chr 6

fibronectin type III domain containing 1

Also known as: AGS8, FNDC2, MEL4B3, bA243O10.1, dJ322A24.1

NCBI Gene: 84624ENSG00000164694UniProt: Q4ZHG4

Predicted to act upstream of or within several processes, including cellular response to hypoxia; positive regulation of cardiac muscle cell apoptotic process; and positive regulation of protein phosphorylation. Predicted to be located in cell-cell junction; mitochondrial membrane; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
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?
0.59LOEUF
pLI 0.000
Z-score 4.44
OE 0.44 (0.33–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.23Z-score
OE missense 0.98 (0.93–1.03)
1078 obs / 1099.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.33–0.59)
0≤0.351.4
Missense OE?0.98 (0.93–1.03)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 32 / 73.0Missense obs/exp: 1078 / 1099.9Syn Z: 0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FNDC1 · 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