Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23636
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleoporin 62
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUP62
Synonyms (NCBI Gene) Gene synonyms aliases
IBSN, SNDI, p62
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SNDI
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 24107630
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
GO:0005543 Function Phospholipid binding IBA 21873635
GO:0005635 Component Nuclear envelope IDA 17098863, 24107630
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605815 8066 ENSG00000213024
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental regression Developmental regression rs1224421127
Mental retardation Mild Mental Retardation, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
16786527
Optic atrophy Optic Atrophy rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299
View all (37 more)
Striatal necrosis Familial infantile bilateral striatal necrosis rs121917865
Unknown
Disease term Disease name Evidence References Source
Spastic tetraparesis Spastic tetraparesis ClinVar
Leigh Syndrome Leigh syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 27250034, 29897944
Adenocarcinoma of Lung Associate 33486901, 37245083
Adenoma Oxyphilic Associate 28819333
Adjustment Disorders Associate 39244145
Adrenal Gland Neoplasms Associate 34638836
Aicardi Syndrome Associate 37118353
Alzheimer Disease Associate 33730050, 34818016
Amyotrophic Lateral Sclerosis Associate 27016404, 29889265, 37723585, 37957721
Antisynthetase syndrome Associate 32896253
Arteriosclerosis Obliterans Inhibit 33323827