NUP88 (nucleoporin 88)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4927
Gene name Nucleoporin 88
Gene symbol NUP88
Synonyms (NCBI Gene)
FADS4
Chromosome 17
Chromosome location 17p13.2
Summary The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main compone
SNPs SNP information provided by dbSNP.
3
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs774070092 G>A Pathogenic Stop gained, coding sequence variant
rs776532930 CTT>- Pathogenic Inframe deletion, coding sequence variant
rs1567568217 C>A Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0000055 Process Ribosomal large subunit export from nucleus IBA
GO:0000055 Process Ribosomal large subunit export from nucleus IEA
GO:0000056 Process Ribosomal small subunit export from nucleus IBA
GO:0000056 Process Ribosomal small subunit export from nucleus IEA
GO:0005515 Function Protein binding IPI 28514442, 30021884, 30543681, 32296183, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602552 8067 ENSG00000108559
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99567
Protein name Nuclear pore complex protein Nup88 (88 kDa nucleoporin) (Nucleoporin Nup88)
Protein function Component of nuclear pore complex.
PDB 7MNI , 7R5J , 7R5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10168 Nup88 13 → 740 Nuclear pore component Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Nucleocytoplasmic transport
Amyotrophic lateral sclerosis 		  ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
36
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Fetal akinesia deformation sequence 4 Pathogenic rs1567568217, rs774070092, rs776532930 RCV000767400
RCV000767401
RCV000767402
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs116488594 RCV005938879
Cervical cancer Benign rs116488594 RCV005938880
Hepatocellular carcinoma Benign rs739767, rs748486 RCV005922513
RCV005922514
Lung cancer Benign rs116488594 RCV005938882
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 17264541
Adenoma Associate 17264541
Aneuploidy Inhibit 20497554
Carcinogenesis Associate 17007055, 20497554
Carcinoma Hepatocellular Associate 17007055
Colorectal Neoplasms Associate 17264541, 21896994
Fibrosis Associate 17007055
Hepatitis B Associate 17007055
Hepatitis C Associate 17007055
Liver Diseases Associate 17007055