Gene Gene information from NCBI Gene database.
Entrez ID 23636
Gene name Nucleoporin 62
Gene symbol NUP62
Synonyms (NCBI Gene)
IBSNSNDIp62
Chromosome 19
Chromosome location 19q13.33
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 are the main components of the nuclear pore complex i
miRNA miRNA information provided by mirtarbase database.
548
miRTarBase ID miRNA Experiments Reference
MIRT021011 hsa-miR-155-5p Proteomics 18668040
MIRT021129 hsa-miR-186-5p Sequencing 20371350
MIRT025574 hsa-miR-34a-5p Sequencing 20371350
MIRT040077 hsa-miR-615-3p CLASH 23622248
MIRT038819 hsa-miR-93-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 24107630
GO:0000922 Component Spindle pole IEA
GO:0003682 Function Chromatin binding NAS
GO:0005515 Function Protein binding IPI 7744965, 15953362, 16189514, 16648475, 18266911, 18596238, 21078624, 21516116, 22334672, 23477864, 23652018, 24107630, 25416956, 25544563, 25910212, 26496610, 26871637, 27194810, 28514442, 29892012, 30543681, 31515488, 32296183, 33961781
GO:0005543 Function Phospholipid binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605815 8066 ENSG00000213024
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P37198
Protein name Nuclear pore glycoprotein p62 (62 kDa nucleoporin) (Nucleoporin Nup62)
Protein function Essential component of the nuclear pore complex (PubMed:1915414). The N-terminal is probably involved in nucleocytoplasmic transport (PubMed:1915414). The C-terminal is involved in protein-protein interaction probably via coiled-coil formation,
PDB 5IJN , 5IJO , 7PER , 7R5J , 7R5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05064 Nsp1_C 317 429 Nsp1-like C-terminal region Family
Sequence
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLF
SLATQTPATQTTGFTFGTATLASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSN
LTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSFTGGSTAQPSGFNIGSAGNSA
QPTAPATLPFTPATPAATTAGATQPAAPTPTATITSTGPSLFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPA
GIPSNTAAAVTAPPGPGAAAGAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNA
WDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQKELEDLLSPLEELVKEQSGT
IYLQHADEE
REKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
Infantile bilateral striatal necrosis Pathogenic rs121917865 RCV000005018
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial infantile bilateral striatal necrosis Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 29974378, 31122822
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30114705
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22963397, 29897944, 31665193, 31810936
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 16405664
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 31090940
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 19557423
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28055007, 29576851
★☆☆☆☆
Found in Text Mining only
Aicardi Syndrome Aicardi syndrome Pubtator 37118353 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33730050, 34818016 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27737765, 28223223, 30235892, 31243684
★☆☆☆☆
Found in Text Mining only