Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NUP205 Gene

Aliases for NUP205 Gene

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

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 13 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. Among its related pathways are Interferon gamma signaling and Transport of the SLBP independent Mature mRNA. GO annotations related to this gene include structural constituent of nuclear pore.

UniProtKB/Swiss-Prot for NUP205 Gene

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

Gene Wiki entry for NUP205 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP205 Gene

Genomics for NUP205 Gene

Regulatory Elements for NUP205 Gene

Enhancers for NUP205 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F135560 0.8 Ensembl ENCODE 0.8 +4.0 4008 3.1 PKNOX1 DDX20 TEAD4 MAX SIN3A ZNF2 GATA3 CTBP1 ZNF366 SCRT2 C7orf73 RPL15P11 WDR91 NUP205 LOC101027084
GH07F135557 1.1 ENCODE 0.8 +0.3 287 2.1 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 C7orf73 RPL15P11 FAM180A ENSG00000273219 NUP205 LOC101027084
GH07F135537 0.9 Ensembl ENCODE 0.3 -19.8 -19822 0.6 BCOR SMARCE1 HDAC1 RNF2 ARID1B ZNF318 IKZF1 IRF1 NR2F6 NR2C2 CNOT4 NUP205
GH07F135536 0.5 Ensembl 0.3 -21.5 -21514 0.4 HLF ZMYM3 CEBPB CEBPG EP300 ZNF664 HSF1 CEBPA SCRT2 HNF4G ENSG00000273219 NUP205 CNOT4
GH07F135621 0.5 ENCODE 0.2 +63.5 63524 0.2 CTCF ZNF362 PKNOX1 ZNF654 TRIM22 REST RAD21 ZNF83 POLR2H ZNF143 LOC101027084 NUP205
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NUP205 on UCSC Golden Path with GeneCards custom track

Promoters for NUP205 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069355 486 2001 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for NUP205 Gene

Chromosome:
7
Start:
135,557,914 bp from pter
End:
135,648,757 bp from pter
Size:
90,844 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). Forms a complex with NUP53, NUP93, NUP155 and lamin B. Does not interact with TPR.
    SequenceCaution:
    • Sequence=BAA13214.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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 Lys 23, Lys 41, Lys 69, Lys 156, Lys 304, Lys 321, Lys 496, Lys 571, Lys 648, Lys 918, Lys 1150, Lys 1177, Lys 1219, Lys 1461, Lys 1732, and Lys 1988
  • 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

Protein Domains for NUP205 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NUP205 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for NUP205 Gene

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. May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC.

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUP205 Gene COMPARTMENTS Subcellular localization image for NUP205 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 3

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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with NUP205: view

Pathways & Interactions for NUP205 Gene

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

Pathways by source for NUP205 Gene

Gene Ontology (GO) - Biological Process for NUP205 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000059 protein import into nucleus, docking TAS 9348540
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006810 transport IEA --
GO:0006913 nucleocytoplasmic transport TAS 9348540
genes like me logo Genes that share ontologies with NUP205: view

No data available for SIGNOR curated interactions for NUP205 Gene

Transcripts for NUP205 Gene

Unigene Clusters for NUP205 Gene

Nucleoporin 205kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
NUP205

Expression for NUP205 Gene

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

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, PaxDb, MaxQB, and MOPED for NUP205 Gene



Protein tissue co-expression partners for NUP205 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP205 Gene:

NUP205

SOURCE GeneReport for Unigene cluster for NUP205 Gene:

Hs.743250
genes like me logo Genes that share expression patterns with NUP205: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia NUP205 34 35
  • 92.33 (n)
oppossum
(Monodelphis domestica)
Mammalia NUP205 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NUP205 34 35
  • 91.02 (n)
rat
(Rattus norvegicus)
Mammalia Nup205 34
  • 87.98 (n)
mouse
(Mus musculus)
Mammalia Nup205 34 16 35
  • 87.88 (n)
chicken
(Gallus gallus)
Aves NUP205 34 35
  • 78.71 (n)
lizard
(Anolis carolinensis)
Reptilia NUP205 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nup205 34
  • 71.12 (n)
Str.19120 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13298 34
zebrafish
(Danio rerio)
Actinopterygii nup205 34 35
  • 66.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008090 34
  • 44.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nup205 34
  • 42.77 (n)
CG11943 35
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea npp-3 35
  • 19 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G51200 34
  • 41.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for NUP205 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for NUP205 Gene

No data available for Paralogs for NUP205 Gene

Variants for NUP205 Gene

Sequence variations from dbSNP and Humsavar for NUP205 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_076471 Nephrotic syndrome 13 (NPHS13) [MIM:616893]
rs869312984 Pathogenic 135,648,501(+) TAGTT(C/T)CATAC reference, missense
rs10085457 -- 135,626,112(+) AACCT(A/G)TCACT intron-variant
rs10156087 -- 135,632,171(+) ggccg(A/G)ttatg intron-variant
rs10224307 -- 135,629,089(+) GATGA(C/T)TGAGT intron-variant

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)

Relevant External Links for NUP205 Gene

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

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

Disorders for NUP205 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NUP205 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome 13
  • nphs13
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
paget's disease of bone
  • familial paget's disease of bone
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for NUP205

Genetic Association Database (GAD)
NUP205
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex. (PMID: 15703211) Hawryluk-Gara L.A. … Wozniak R.W. (Mol. Biol. Cell 2005) 3 4 22 64
  2. 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 V.C. (Mol. Biol. Cell 2004) 3 4 22 64
  3. 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. (Mol. Biol. Cell 1997) 2 3 4 64
  4. 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 Res. 1996) 2 3 4 64
  5. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. (PMID: 26878725) Braun D.A. … Hildebrandt F. (Nat. Genet. 2016) 3 4 64

Products for NUP205 Gene

Sources for NUP205 Gene

Content
Loading form....