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Gene Gene information from NCBI Gene database.
Entrez ID 4928
Gene name Nucleoporin 98 and 96 precursor
Gene symbol NUP98
Synonyms (NCBI Gene)
ADIR2NUP196NUP96Nup98-96
Chromosome 11
Chromosome location 11p15.4
Summary Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and e
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1057519323 T>C Likely-pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
327 Show/Hide all (327)
miRTarBase ID miRNA Experiments Reference
MIRT025511 hsa-miR-34a-5p Proteomics 21566225
MIRT027735 hsa-miR-98-5p Microarray 19088304
MIRT051267 hsa-miR-16-5p CLASH 23622248
MIRT049913 hsa-miR-30a-3p CLASH 23622248
MIRT045389 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55 Show/Hide all (55)
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore IDA 15146057
GO:0000973 Process Post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery IBA
GO:0003713 Function Transcription coactivator activity IMP 28221134
GO:0003723 Function RNA binding IBA
GO:0003729 Function MRNA binding IMP 28221134
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601021 8068 ENSG00000110713
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52948
Protein name Nuclear pore complex protein Nup98-Nup96 (EC 3.4.21.-) [Cleaved into: Nuclear pore complex protein Nup98 (98 kDa nucleoporin) (Nucleoporin Nup98) (Nup98); Nuclear pore complex protein Nup96 (96 kDa nucleoporin) (Nucleoporin Nup96) (Nup96)]
Protein function Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC (PubMed:33097660). May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a rol
PDB 1KO6 , 2Q5X , 2Q5Y , 3MMY , 4OWR , 5A9Q , 6BZM , 7F60 , 7F90 , 7MNI , 7PEQ , 7Q64 , 7Q65 , 7Q66 , 7Q67 , 7VPG , 7VPH , 8CI8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04096 Nucleoporin2 738 → 885 Nucleoporin autopeptidase Family
PF12110 Nup96 1332 → 1623 Nuclear protein 96 Domain
Sequence
MFNKSFGTPFGGGTGGFGTTSTFGQNTGFGTTSGGAFGTSAFGSSNNTGGLFGNSQTKPG
GLFGTSSFSQPATSTSTGFGFGTSTGTANTLFGTASTGTSLFSSQNNAFAQNKPTGFGNF
GTSTSSGGLFGTTNTTSNPFGSTSGSLFGPSSFTAAPTGTTIKFNPPTGTDTMVKAGVST
NISTKHQCITAMKEYESKSLEELRLEDYQANRKGPQNQVGAGTTTGLFGSSPATSSATGL
FSSSTTNSGFAYGQNKTAFGTSTTGFGTNPGGLFGQQNQQTTSLFSKPFGQATTTQNTGF
SFGNTSTIGQPSTNTMGLFGVTQASQPGGLFGTATNTSTGTAFGTGTGLFGQTNTGFGAV
GSTLFGNNKLTTFGSSTTSAPSFGTTSGGLFGNKPTLTLGTNTNTSNFGFGTNTSGNSIF
GSKPAPGTLGTGLGAGFGTALGAGQASLFGNNQPKIGGPLGTGAFGAPGFNTTTATLGFG
APQAPVALTDPNASAAQQAVLQQHINSLTYSPFGDSPLFRNPMSDPKKKEERLKPTNPAA
QKALTTPTHYKLTPRPATRVRPKALQTTGTAKSHLFDGLDDDEPSLANGAFMPKKSIKKL
VLKNLNNSNLFSPVNRDSENLASPSEYPENGERFSFLSKPVDENHQQDGDEDSLVSHFYT
NPIAKPIPQTPESAGNKHSNSNSVDDTIVALNMRAALRNGLEGSSEETSFHDESLQDDRE
EIENNSYHMHPAGIILTKVGYYTIPSMDDLAKITNEKGECIVSDFTIGRKGYGSIYFEGD
VNLTNLNLDDIVHIRRKEVVVYLDDNQKPPVGEGLNRKAEVTLDGVWPTDKTSRCLIKSP
DRLADINYEGRLEAVSRKQGAQFKEYRPETGSWVFKVSHFSKYGL
QDSDEEEEEHPSKTS
TKKLKTAPLPPASQTTPLQMALNGKPAPPPQSQSPEVEQLGRVVELDSDMVDITQEPVLD
TMLEESMPEDQEPVSASTHIASSLGINPHVLQIMKASLLTDEEDVDMALDQRFSRLPSKA
DTSQEICSPRLPISASHSSKTRSLVGGLLQSKFTSGAFLSPSVSVQECRTPRAASLMNIP
STSSWSVPPPLTSVFTMPSPAPEVPLKTVGTRRQLGLVPREKSVTYGKGKLLMDMALFMG
RSFRVGWGPNWTLANSGEQLNGSHELENHQIADSMEFGFLPNPVAVKPLTESPFKVHLEK
LSLRQRKPDEDMKLYQTPLELKLKHSTVHVDELCPLIVPNLGVAVIHDYADWVKEASGDL
PEAQIVKHWSLTWTLCEALWGHLKELDSQLNEPREYIQILERRRAFSRWLSCTATPQIEE
EVSLTQKNSPVEAVFSYLTGKRISEACSLAQQSGDHRLALLLSQFVGSQSVRELLTMQLV
DWHQLQADSFIQDERLRIFALLAGKPVWQLSEKKQINVCSQLDWKRSLAIHLWYLLPPTA
SISRALSMYEEAFQNTSDSDRYACSPLPSYLEGSGCVIAEEQNSQTPLRDVCFHLLKLYS
DRHYDLNQLLEPRSITADPLDYRLSWHLWEVLRALNYTHLSAQCEGVLQASYAGQLESEG
LWEWAIFVLLHIDNSGIREKAVRELLTRHCQLLETPESWAKETFLTQKLRVPAKWIHEAK
AVR
AHMESDKHLEALCLFKAEHWNRCHKLIIRHLASDAIINENYDYLKGFLEDLAPPERS
SLIQDWETSGLVYLDYIRVIEMLRHIQQVDCSGNDLEQLHIKVTSLCSRIEQIQCYSAKD
RLAQSDMAKRVANLLRVVLSLHHPPDRTSDSTPDPQRVPLRLLAPHIGRLPMPEDYAMDE
LRSLTQSYLRELAVGSL
Sequence length 1817
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nucleocytoplasmic transport ISG15 antiviral mechanism
Amyotrophic lateral sclerosis Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Influenza A 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
  Separation of Sister Chromatids
  Resolution of Sister Chromatid Cohesion
  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)
  RHO GTPases Activate Formins
  tRNA processing in the nucleus
  Mitotic Prometaphase
  HCMV Early Events
  HCMV Late Events
  Postmitotic nuclear pore complex (NPC) reformation
  EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hirschsprung disease, susceptibility to, 1 Likely pathogenic rs1057519323 RCV000416348
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
Aganglionic megacolon Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA — CTD, Disgenet
CTD, Disgenet
27725143
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASES — CTD 39788167
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (105)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute erythroleukemia Erythroleukemia CTD_human_DG 30926971
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute erythroleukemia - M6a subtype Erythroleukemia CTD_human_DG 30926971
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute erythroleukemia - M6b subtype Erythroleukemia CTD_human_DG 30926971
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12032333, 15755899, 16419055, 16651408, 22643831, 22927245, 25220590, 27258906, 30346380
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 23531517, 29427526, 31698461
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 12353270, 12645654, 15951287, 19225539, 21810091, 22606303, 23630019, 26418229, 27890253, 28854430
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 21441929
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia FAB-M6 Myeloid Leukemia CTD_human_DG 30926971
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 21441929
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 12542486, 19005624
★★★★★
★☆☆☆☆
Found in Text Mining only