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] See more...

Aliases for NUP205 Gene

Aliases for NUP205 Gene

  • Nucleoporin 205 2 3 5
  • Nuclear Pore Complex Protein Nup205 2 3 4
  • 205 KDa Nucleoporin 3 4
  • Nucleoporin Nup205 3 4
  • KIAA0225 2 4
  • C7orf14 3 4
  • Chromosome 7 Open Reading Frame 14 2
  • Nucleoporin 205kDa 2
  • NPHS13 3
  • NUP205 5

External Ids for NUP205 Gene

Previous HGNC Symbols for NUP205 Gene

  • C7orf14

Previous GeneCards Identifiers for NUP205 Gene

  • GC07P134659
  • GC07P134660
  • GC07P134699
  • GC07P134893
  • GC07P135242
  • GC07P129545

Summaries for NUP205 Gene

Entrez Gene Summary for NUP205 Gene

  • 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]

GeneCards Summary for NUP205 Gene

NUP205 (Nucleoporin 205) is a Protein Coding gene. Diseases associated with NUP205 include Nephrotic Syndrome, Type 13 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. Gene Ontology (GO) annotations related to this gene include structural constituent of nuclear pore.

UniProtKB/Swiss-Prot Summary for NUP205 Gene

  • Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283).

Gene Wiki entry for NUP205 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP205 Gene

Genomics for NUP205 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP205 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP205 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP205

Top Transcription factor binding sites by QIAGEN in the NUP205 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • GR
  • GR-alpha
  • GR-beta
  • YY1

Genomic Locations for NUP205 Gene

Latest Assembly
chr7:135,557,917-135,648,757
(GRCh38/hg38)
Size:
90,841 bases
Orientation:
Plus strand

Previous Assembly
chr7:135,242,665-135,333,501
(GRCh37/hg19 by Entrez Gene)
Size:
90,837 bases
Orientation:
Plus strand

chr7:135,242,667-135,333,505
(GRCh37/hg19 by Ensembl)
Size:
90,839 bases
Orientation:
Plus strand

Genomic View for NUP205 Gene

Genes around NUP205 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP205 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP205 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP205 Gene

Proteins for NUP205 Gene

  • Protein details for NUP205 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92621-NU205_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup205
    Protein Accession:
    Q92621
    Secondary Accessions:
    • A6H8X3
    • Q86YC1

    Protein attributes for NUP205 Gene

    Size:
    2012 amino acids
    Molecular mass:
    227922 Da
    Quaternary structure:
    • Part of the nuclear pore complex (NPC) (PubMed:9348540, PubMed:15229283). Forms a complex with NUP35, NUP93, NUP155 and lamin B (PubMed:15703211, PubMed:26878725). Does not interact with TPR (PubMed:12802065).
    SequenceCaution:
    • Sequence=BAA13214.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP205 Gene

neXtProt entry for NUP205 Gene

Post-translational modifications for NUP205 Gene

  • Ubiquitination at Lys18, Lys23, Lys41, Lys69, Lys156, Lys304, Lys321, Lys496, Lys571, Lys648, Lys918, Lys1150, Lys1177, Lys1219, Lys1461, Lys1732, and Lys1988
  • Modification sites at PhosphoSitePlus

Other Protein References for NUP205 Gene

No data available for DME Specific Peptides for NUP205 Gene

Domains & Families for NUP205 Gene

Gene Families for NUP205 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for NUP205 Gene

Suggested Antigen Peptide Sequences for NUP205 Gene

GenScript: Design optimal peptide antigens:
  • Nucleoporin Nup205 (NU205_HUMAN)
  • NUP205 protein (Q4VBX7_HUMAN)
  • NUP205 protein (Q6DKH1_HUMAN)
  • NUP205 protein (Q6P486_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92621

UniProtKB/Swiss-Prot:

NU205_HUMAN :
  • Belongs to the NUP186/NUP192/NUP205 family.
Family:
  • Belongs to the NUP186/NUP192/NUP205 family.
genes like me logo Genes that share domains with NUP205: view

Function for NUP205 Gene

Molecular function for NUP205 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (PubMed:15229283).

Phenotypes From GWAS Catalog for NUP205 Gene

Gene Ontology (GO) - Molecular Function for NUP205 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9348540
GO:0017056 structural constituent of nuclear pore IMP 15229283
genes like me logo Genes that share ontologies with NUP205: view
genes like me logo Genes that share phenotypes with NUP205: view

Human Phenotype Ontology for NUP205 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for NUP205 Gene

miRTarBase miRNAs that target NUP205

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP205

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NUP205 Gene

Localization for NUP205 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP205 Gene

Nucleus membrane. Peripheral membrane protein. Nucleus, nuclear pore complex. Note=Localized near the center, on both the cytoplasmic and nuclear side, of the NPC core structure. {ECO:0000269 PubMed:15229283}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP205 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NUP205 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA,NAS 9348540
GO:0016020 membrane IEA,HDA 19946888
GO:0031965 nuclear membrane IEA,IDA 15229283
genes like me logo Genes that share ontologies with NUP205: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUP205 Gene

Pathways & Interactions for NUP205 Gene

PathCards logo

SuperPathways for NUP205 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP205: view

Gene Ontology (GO) - Biological Process for NUP205 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006913 nucleocytoplasmic transport TAS 9348540
GO:0006999 nuclear pore organization IBA 21873635
genes like me logo Genes that share ontologies with NUP205: view

No data available for SIGNOR curated interactions for NUP205 Gene

Drugs & Compounds for NUP205 Gene

No Compound Related Data Available

Transcripts for NUP205 Gene

mRNA/cDNA for NUP205 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP205

Alternative Splicing Database (ASD) splice patterns (SP) for NUP205 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2:
SP3:
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42 ^ 43 ^ 44 ^ 45
SP1: -
SP2:
SP3:
SP4: -

Relevant External Links for NUP205 Gene

GeneLoc Exon Structure for
NUP205

Expression for NUP205 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP205 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for NUP205 Gene

This gene is overexpressed in Nasal epithelium (10.5) and Bone (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP205 Gene



Protein tissue co-expression partners for NUP205 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP205

SOURCE GeneReport for Unigene cluster for NUP205 Gene:

Hs.743250

Evidence on tissue expression from TISSUES for NUP205 Gene

  • Liver(4.4)
  • Skin(4.4)
  • Bone marrow(4.2)
  • Nervous system(3.3)
  • Blood(2.8)
  • Kidney(2.1)
  • Heart(2)
  • Eye(2)
genes like me logo Genes that share expression patterns with NUP205: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP205 Gene

Orthologs for NUP205 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUP205 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NUP205 29 30
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUP205 29 30
  • 92.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NUP205 30
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 92 (a)
OneToMany
-- 30
  • 80 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia NUP205 29 30
  • 91.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup205 29
  • 87.98 (n)
Mouse
(Mus musculus)
Mammalia Nup205 29 16 30
  • 87.88 (n)
OneToOne
Chicken
(Gallus gallus)
Aves NUP205 29 30
  • 78.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NUP205 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nup205 29
  • 71.12 (n)
Str.19120 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.13298 29
Zebrafish
(Danio rerio)
Actinopterygii nup205 29 30
  • 66.14 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008090 29
  • 44.73 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nup205 29
  • 42.77 (n)
CG11943 30
  • 29 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea npp-3 30
  • 19 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G51200 29
  • 41.87 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToOne
Species where no ortholog for NUP205 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NUP205 Gene

ENSEMBL:
Gene Tree for NUP205 (if available)
TreeFam:
Gene Tree for NUP205 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP205: view image
Alliance of Genome Resources:
Additional Orthologs for NUP205

Paralogs for NUP205 Gene

No data available for Paralogs for NUP205 Gene

Variants for NUP205 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP205 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
591229 Uncertain Significance: not provided 135,577,935(+) CA/TG
NM_015135.3(NUP205):c.788_789inv (p.Ser263Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs11550519 Likely Benign: not provided 135,638,603(+) G/T
NM_015135.3(NUP205):c.5312G>T (p.Ser1771Ile)
MISSENSE
rs116171760 Benign: not provided 135,577,936(+) A/G
NM_015135.3(NUP205):c.789A>G (p.Ser263=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs12707242 Benign: not provided 135,577,933(+) C/T
NM_015135.3(NUP205):c.786C>T (p.Gly262=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs1315851298 Likely Benign: not provided 135,587,902(+) A/G
NM_015135.3(NUP205):c.1383A>G (p.Leu461=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NUP205 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NUP205 Gene

Variant ID Type Subtype PubMed ID
dgv3673n106 CNV deletion 24896259
esv2288564 CNV deletion 18987734
esv2485767 CNV deletion 19546169
esv2659766 CNV deletion 23128226
esv2675714 CNV deletion 23128226
esv2735191 CNV deletion 23290073
esv3542475 CNV deletion 23714750
esv3615124 CNV loss 21293372
esv3615125 CNV loss 21293372
nsv1020986 CNV loss 25217958
nsv1032469 CNV gain 25217958
nsv1109917 CNV deletion 24896259
nsv477189 CNV novel sequence insertion 20440878
nsv520786 CNV gain 19592680
nsv608460 CNV gain 21841781
nsv831146 CNV loss 17160897

Variation tolerance for NUP205 Gene

Residual Variation Intolerance Score: 1.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.95; 67.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP205 Gene

Human Gene Mutation Database (HGMD)
NUP205
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP205
Leiden Open Variation Database (LOVD)
NUP205

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP205 Gene

Disorders for NUP205 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NUP205 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
nephrotic syndrome, type 13
  • nphs13
genetic steroid-resistant nephrotic syndrome
  • familial idiopathic nephrotic syndrome
nephrotic syndrome
  • finnish congenital nephrotic syndrome
paget's disease of bone
  • familial paget's disease of bone
schimke immunoosseous dysplasia
  • siod
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU205_HUMAN
  • Nephrotic syndrome 13 (NPHS13) [MIM:616893]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. {ECO:0000269 PubMed:26878725}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NUP205

genes like me logo Genes that share disorders with NUP205: view

No data available for Genatlas for NUP205 Gene

Publications for NUP205 Gene

  1. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. (PMID: 26878725) Braun DA … Hildebrandt F (Nature genetics 2016) 3 4 72
  2. Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex. (PMID: 15703211) Hawryluk-Gara LA … Wozniak RW (Molecular biology of the cell 2005) 3 4 22
  3. Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket. (PMID: 15229283) Krull S … Cordes VC (Molecular biology of the cell 2004) 3 4 22
  4. Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly. (PMID: 9348540) Grandi P … Hurt E (Molecular biology of the cell 1997) 2 3 4
  5. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4

Products for NUP205 Gene

Sources for NUP205 Gene