NECTIN3

Chr 3

nectin cell adhesion molecule 3

Also known as: CD113, CDW113, NECTIN-3, PPR3, PRR3, PVRL3, PVRR3

NCBI Gene: 25945ENSG00000177707UniProt: Q9NQS3OMIM: 607147

This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating 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.
3
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.37
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.37LOEUF
pLI 0.916
Z-score 3.66
OE 0.14 (0.06–0.37)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.77Z-score
OE missense 0.87 (0.78–0.97)
245 obs / 281.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.14 (0.06–0.37)
0≤0.351.4
Missense OE?0.87 (0.78–0.97)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 3 / 21.2Missense obs/exp: 245 / 281.4Syn Z: -1.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NECTIN3 · protein map & ClinVar variants

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

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