NUP205

Chr 7AR

nucleoporin 205

Also known as: C7orf14, NPHS13

NCBI Gene: 23165ENSG00000155561UniProt: Q92621

This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

Primary Disease Associations & Inheritance

?Nephrotic syndrome, type 13MIM #616893
AR
531
ClinVar variants
33
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— NUP205
🧬
Gene-Disease Validity (ClinGen)
nephrotic syndrome, type 13 · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 222 VUS of 531 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.23LOEUF
pLI 1.000
Z-score 8.37
OE 0.16 (0.11–0.23)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.35Z-score
OE missense 0.88 (0.84–0.93)
955 obs / 1080.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.16 (0.11–0.23)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.84–0.93)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 18 / 114.8Missense obs/exp: 955 / 1080.2Syn Z: -0.44

ClinVar Variant Classifications

531 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic2
VUS222
Likely Benign146
Benign122
Conflicting8
31
Pathogenic
2
Likely Pathogenic
222
VUS
146
Likely Benign
122
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
30
0
31
Likely Pathogenic
0
1
1
0
2
VUS
1
208
13
0
222
Likely Benign
0
10
70
66
146
Benign
0
5
101
16
122
Conflicting
—8
Total122521582531

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

View in ClinVar →

Protein Context — Lollipop Plot

NUP205 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Nephrotic syndrome, type 13

MIM #616893

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Nucleoporin-associated steroid-resistant nephrotic syndrome.
Yao L et al.·Pediatr Nephrol
2025Review
The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ.
Ester L et al.·Hum Mol Genet
2023
Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.
Tao X et al.·Front Endocrinol (Lausanne)
2022Cohort
Proteomic profile of preeclampsia in the first trimester of pregnancy.
Jacobo-Baca G et al.·J Matern Fetal Neonatal Med
2022
Interaction of adenovirus type 5 E4orf4 with the nuclear pore subunit Nup205 is required for proper viral gene expression.
Lu Y et al.·J Virol
2014
Paget's disease of bone: evidence for complex pathogenetic interactions.
Chung PY et al.·Semin Arthritis Rheum
2012Review
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.
Izumi R et al.·Ann Clin Transl Neurol
2024
A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression.
Kooi IE et al.·PLoS One
2016Meta-analysis
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun DA et al.·J Clin Invest
2018
A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.
De Ridder R et al.·Calcif Tissue Int
2021Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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