NUP133

Chr 1AR

nucleoporin 133

Also known as: GAMOS8, NPHS18, hNUP133

NCBI Gene: 55746ENSG00000069248UniProt: Q8WUM0

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

?Galloway-Mowat syndrome 8MIM #618349
AR
Nephrotic syndrome, type 18MIM #618177
AR
0
Active trials
44
Pathogenic / LP
419
ClinVar variants
9
Pubs (1 yr)
1.0
Missense Z
0.45
LOEUF
Clinical Summary— NUP133
🧬
Gene-Disease Validity (ClinGen)
nephrotic syndrome, type 18 · ARModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
📋
ClinVar Variants
44 Pathogenic / Likely Pathogenic· 240 VUS of 419 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.45LOEUF
pLI 0.000
Z-score 5.17
OE 0.31 (0.22–0.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.02Z-score
OE missense 0.88 (0.82–0.95)
526 obs / 596.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.31 (0.22–0.45)
0≤0.351.4
Missense OE0.88 (0.82–0.95)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 20 / 64.9Missense obs/exp: 526 / 596.4Syn Z: -0.49

ClinVar Variant Classifications

419 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic9
VUS240
Likely Benign105
Benign26
Conflicting4
35
Pathogenic
9
Likely Pathogenic
240
VUS
105
Likely Benign
26
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
3
2
4
0
9
VUS
2
221
16
1
240
Likely Benign
0
7
39
59
105
Benign
0
8
7
11
26
Conflicting
—4
Total523810171419

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

NUP133 · protein map & ClinVar variants

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

Gene2Phenotype Curations

NUP133-related Galloway-Mowat syndrome

strong
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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