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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NUP205
nucleoporin 205
Chromosome 7 Β· 7q33
NCBI Gene: 23165Ensembl: ENSG00000155561.16HGNC: HGNC:18658UniProt: Q92621
173PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nuclear peripherynuclear membranenuclear porestructural constituent of nuclear poreinfluenzaHIV infectionfamilial idiopathic steroid-resistant nephrotic syndromeviral disease
✦AI Summary

NUP205 (nucleoporin 205) is a critical structural component of the nuclear pore complex (NPC) that serves multiple essential cellular functions. As part of the inner ring of the NPC, NUP205 plays a fundamental role in nuclear pore assembly and maintenance, with two copies present in each cytoplasmic ring subunit 1. The protein anchors various nucleoporins to the NPC and mediates contacts between neighboring cytoplasmic ring subunits through interactions with NUP93 1. Beyond its structural role, NUP205 is essential for nucleocytoplasmic transport, specifically regulating nuclear import of transcriptional effectors YAP and TAZ in the Hippo pathway 2. NUP205 also functions in cilia biology, where its depletion results in cilia loss and abnormal cardiac morphology, contributing to proper left-right patterning during embryonic development 3. Clinically, pathogenic variants in NUP205 cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis, typically presenting around age 2 years with progression to kidney failure by age 7 years 4. Additionally, NUP205 variants are associated with congenital heart disease and situs defects, linking the protein to ciliopathy pathogenesis 5.

Sources cited
1
NUP205 has two copies in each cytoplasmic ring subunit and mediates contacts between neighboring subunits through NUP93 interactions
PMID: 35679404
2
NUP205 is essential for YAP/TAZ nuclear import and transcriptional activity in podocytes
PMID: 37565816
3
NUP205 depletion causes cilia loss and abnormal cardiac morphology, affecting left-right patterning
PMID: 33065118
4
NUP205 variants cause steroid-resistant nephrotic syndrome with onset around age 2 and kidney failure by age 7
PMID: 39331077
5
NUP205 variants are associated with congenital heart disease and situs defects related to ciliopathy
PMID: 37908226
Disease Associationsβ“˜21
influenzaOpen Targets
0.54Moderate
HIV infectionOpen Targets
0.54Moderate
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.53Moderate
viral diseaseOpen Targets
0.53Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
COVID-19Open Targets
0.37Weak
HistiocytosisOpen Targets
0.37Weak
systemic lupus erythematosusOpen Targets
0.29Weak
aortic valve stenosisOpen Targets
0.28Weak
connective tissue neoplasmOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
osteitis deformansOpen Targets
0.23Weak
placental retentionOpen Targets
0.20Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.15Weak
Abnormal male internal genitalia morphologyOpen Targets
0.08Suggestive
substance-related disorderOpen Targets
0.07Suggestive
Nephrotic syndrome 13UniProt
Pathogenic Variants2
NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro)Likely pathogenic
Nephrotic syndrome, type 13
β˜…β˜†β˜†β˜†2019β†’ Residue 1110
NM_015135.3(NUP205):c.5984T>C (p.Phe1995Ser)Pathogenic
Nephrotic syndrome, type 13
β˜†β˜†β˜†β˜†2020β†’ Residue 1995
View on ClinVar β†—
Related Genes
KPNB1Protein interaction100%RANGAP1Protein interaction100%POM121Protein interaction100%XPOTProtein interaction100%IPO8Protein interaction100%GLE1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
99%
Ovary
80%
Lung
70%
Heart
42%
Liver
37%
Gene Interaction Network
Click a node to explore
NUP205KPNB1RANGAP1POM121XPOTIPO8GLE1
PROTEIN STRUCTURE
Preparing viewer…
PDB7R5K Β· 12.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.37Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.24–0.37]
RankingsWhere NUP205 stands among ~20K protein-coding genes
  • #2,551of 20,598
    Most Researched173 Β· top quartile
  • #4,256of 5,498
    Most Pathogenic Variants2
  • #1,670of 17,882
    Most Constrained (LOEUF)0.37 Β· top 10%
Genes detectedNUP205
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.
PMID: 29628143
Cell Β· 2018
1.00
2
Human Genetics of Defects of Situs.
PMID: 38884744
Adv Exp Med Biol Β· 2024
0.90
3
Structure of the cytoplasmic ring of the
PMID: 35679404
Science Β· 2022
0.80
4
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.
PMID: 37565816
Hum Mol Genet Β· 2023
0.70
5
Nucleoporin-associated steroid-resistant nephrotic syndrome.
PMID: 39331077
Pediatr Nephrol Β· 2025
0.60