NUP93 (nucleoporin 93)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9688
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleoporin 93
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUP93
Synonyms (NCBI Gene) Gene synonyms aliases
NIC96
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q13
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 are the main components of the nuclear pore complex i
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs138909849 G>A Pathogenic Splice donor variant
rs145473779 G>T Pathogenic Coding sequence variant, missense variant
rs757674160 A>G Pathogenic Missense variant, coding sequence variant
rs869320695 G>- Pathogenic Frameshift variant, coding sequence variant
rs1351580598 T>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(203)
miRTarBase ID miRNA Experiments Reference
MIRT001059 hsa-miR-218-5p qRT-PCR, Western blot 17998940
MIRT046016 hsa-miR-125b-5p CLASH 23622248
MIRT715949 hsa-miR-4438 HITS-CLIP 19536157
MIRT715948 hsa-miR-1273g-3p HITS-CLIP 19536157
MIRT715947 hsa-miR-4793-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26878725, 32296183
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IDA 24315095, 26878725
GO:0005635 Component Nuclear envelope IEA
GO:0005635 Component Nuclear envelope TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614351 28958 ENSG00000102900
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8N1F7
Protein name Nuclear pore complex protein Nup93 (93 kDa nucleoporin) (Nucleoporin Nup93)
Protein function Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 sign
PDB 5IJN , 5IJO , 7MW0 , 7MW1 , 7PER , 7R5J , 7R5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04097 Nic96 214 → 804 Nup93/Nic96 Family
Sequence 
MDTEGFGELLQQAEQLAAETEGISELPHVERNLQEIQQAGERLRSRTLTRTSQETADVKA
SVLLGSRGLDISHISQRLESLSAATTFEPLEPVKDTDIQGFLKNEKDNALLSAIEESRKR
TFGMAEEYHRESMLVEWEQVKQRILHTLLASGEDALDFTQESEPSYISDVGPPGRSSLDN
IEMAYARQIYIYNEKIVNGHLQPNLVDLCASVAELDDKSISDMWTMVKQMTDVLLTPATD
ALKNRSSVEVRMEFVRQALAYLEQSYKNYTLVTVFGNLHQAQLGGVPGTYQLVRSFLNIK
LPAPLPGLQDGEVEGHPVWALIYYCMRCGDLLAASQVVNRAQHQLGEFKTWFQEYMNSKD
RRLSPATENKLRLHYRRALRNNTDPYKRAVYCIIGRCDVTDNQSEVADKTEDYLWLKLNQ
VCFDDDGTSSPQDRLTLSQFQKQLLEDYGESHFTVNQQPFLYFQVLFLTAQFEAAVAFLF
RMERLRCHAVHVALVLFELKLLLKSSGQSAQLLSHEPGDPPCLRRLNFVRLLMLYTRKFE
STDPREALQYFYFLRDEKDSQGENMFLRCVSELVIESREFDMILGKLENDGSRKPGVIDK
FTSDTKPIINKVASVAENKGLFEEAAKLYDLAKNADKVLELMNKLLSPVVPQISAPQSNK
ERLKNMALSIAERYRAQGISANKFVDSTFYLLLDLITFFDEYHSGHIDRAFDIIERLKLV
PLNQESVEERVAAFRNFSDEIRHNLSEVLLATMNILFTQFKRLKGTSPSSSSRPQRVIED
RDSQLRSQARTLITFAGMIPYRTSGDTNARLVQMEVLMN
Sequence length 819
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA 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
Postmitotic nuclear pore complex (NPC) reformation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephrotic Syndrome nephrotic syndrome, type 12, nephrotic syndrome rs145473779, rs757674160, rs869320695, rs138909849, rs1351580598 N/A
focal segmental glomerulosclerosis Focal segmental glomerulosclerosis rs1596861969 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31959624
Carcinoma Hepatocellular Associate 34767927
Down Syndrome Associate 21856934
Genetic Diseases Inborn Associate 33578576
Ichthyosis X Linked Associate 31315584
Infections Associate 33578576
Myocardial Infarction Associate 20031564
Neoplasm Metastasis Stimulate 34767927
Neoplasms Associate 26496030, 31959624, 35485764
Nephrosis congenital Associate 37845138