NUP88 (nucleoporin 88)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4927
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleoporin 88
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUP88
Synonyms (NCBI Gene) Gene synonyms aliases
FADS4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FADS4
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000056 Process Ribosomal small subunit export from nucleus IBA 21873635
GO:0000278 Process Mitotic cell cycle IEA
GO:0005215 Function Transporter activity TAS 9049309
GO:0005515 Function Protein binding IPI 28514442, 30543681, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602552 8067 ENSG00000108559
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Akinesia Akinesia rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335
View all (33 more)
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 30423114, 24390342
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Fetal Akinesia Deformation Sequence fetal akinesia deformation sequence 4, fetal akinesia deformation sequence 1 GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Show/Hide Text Mining Associations (17)
Associations from Text Mining
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