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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 in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to... See more...
Aliases for NUP62 Gene
Aliases for NUP62 Gene
External Ids for NUP62 Gene
- HGNC: 8066
- Entrez Gene: 23636
- Ensembl: ENSG00000213024
- OMIM: 605815
- UniProtKB: P37198
Previous GeneCards Identifiers for NUP62 Gene
- GC19M051068
- GC19M050742
- GC19M055086
- GC19M055066
- GC19M055087
- GC19M055072
- GC19M055102
- GC19M055093
- GC19M055095
- GC19M055097
- GC19M055103
- GC19M055104
- GC19M055105
- GC19M055107
- GC19M055109
- GC19M050410
- GC19M046786
Summaries for NUP62 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 in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]
GeneCards Summary for NUP62 Gene
NUP62 (Nucleoporin 62) is a Protein Coding gene. Diseases associated with NUP62 include Striatonigral Degeneration, Infantile and Familial Infantile Bilateral Striatal Necrosis. Among its related pathways are Transport of the SLBP independent Mature mRNA and Cellular response to heat stress. Gene Ontology (GO) annotations related to this gene include chromatin binding and SH2 domain binding. An important paralog of this gene is NUP62CL.
UniProtKB/Swiss-Prot Summary for NUP62 Gene
-
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, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630).
Additional gene information for NUP62 Gene
- HGNC(8066)
- Entrez Gene(23636)
- Ensembl(ENSG00000213024)
- OMIM(605815)
- UniProtKB(P37198)
- Open Targets Platform(ENSG00000213024)
- Monarch Initiative
- Search for NUP62 at DataMed
- Search for NUP62 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP62 Gene
Genomics for NUP62 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NUP62 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NUP62 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP62
- Top Transcription factor binding sites by QIAGEN in the NUP62 gene promoter:
-
- AP-1
- HNF-4alpha1
- ISGF-3
- MyoD
- MZF-1
- p300
- Pax-4a
- Spz1
- SRF
- SRF (504 AA)
Genomic Locations for NUP62 Gene
Genomic Locations for NUP62 Gene
- chr19:49,906,825-49,929,763
- (GRCh38/hg38)
- Size:
- 22,939 bases
- Orientation:
- Minus strand
- chr19:50,410,082-50,433,020
- (GRCh37/hg19)
- Size:
- 22,939 bases
- Orientation:
- Minus strand
Genomic View for NUP62 Gene
Genes around NUP62 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
NUP62 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NUP62 Gene
Proteins for NUP62 Gene
-
Protein details for NUP62 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P37198-NUP62_HUMAN
- Recommended name:
- Nuclear pore glycoprotein p62
- Protein Accession:
- P37198
- B3KWU5
- Q503A4
- Q6GTM2
- Q96C43
- Q9NSL1
Protein attributes for NUP62 Gene
- Size:
- 522 amino acids
- Molecular mass:
- 53255 Da
- Quaternary structure:
-
- Component of the p62 complex, a complex at least composed of NUP62, NUP54, and NUP58 (By similarity). Interacts with NUP88 (PubMed:30543681). Interacts with NUTF2 (By similarity). Interacts with HIKESHI (PubMed:22541429). Interacts with OSBPL8 (PubMed:21698267). Interacts with CAPG (PubMed:18266911). Interacts with SAS6 and TUBG1 at the centrosome (PubMed:24107630). Interacts with MCM3AP isoform GANP (PubMed:23652018).
- (Microbial infection) Interacts with Epstein-barr virus BGLF4; this interaction allows BGLF4 nuclear entry.
Protein Expression for NUP62 Gene
Post-translational modifications for NUP62 Gene
- O-glycosylated. Contains about 10 N-acetylglucosamine side chain sites predicted for the entire protein, among which only one in the C-terminal.
- The inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC.
-
Glycosylation at Thr373 and Ser468
- NX_P37198 (NX_P37198-1)
-
Ubiquitination at Lys371 and Lys435
- NX_P37198 (NX_P37198-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- NUP62_HUMAN (471)
Other Protein References for NUP62 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ NUP62 Antibody
- Novus Biologicals Antibodies for NUP62
-
Abcam antibodies for NUP62
- Invitrogen Antibodies for NUP62 (AFLGC-Nup62)
-
Santa Cruz Biotechnology (SCBT) Antibodies for NUP62
- Sino Biological Antibodies for NUP62
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NUP62
- Origene Custom Protein Services for NUP62
- ProSpec Recombinant Proteins for NUP62
-
Signalway Proteins for NUP62
-
ProSci Proteins for NUP62
-
Abcam proteins for NUP62
Assay Products
- G Biosciences Immunotag™ Human NUP62 (Nucleoporin 62kDa) ELISA
-
Signalway ELISA kits for NUP62
No data available for DME Specific Peptides for NUP62 Gene
Domains & Families for NUP62 Gene
Gene Families for NUP62 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for NUP62 Gene
- InterPro:
- Blocks:
-
- Nsp1-like, C-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for NUP62 Gene
- GenScript: Design optimal peptide antigens:
-
- Nucleoporin Nup62 (NUP62_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P37198UniProtKB/Swiss-Prot:
NUP62_HUMAN :- Contains FG repeats.
- Belongs to the nucleoporin NSP1/NUP62 family.
- Domain:
-
- Contains FG repeats.
- Family:
-
- Belongs to the nucleoporin NSP1/NUP62 family.
Function for NUP62 Gene
Molecular function for NUP62 Gene
- UniProtKB/Swiss-Prot 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, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630).
- GENATLAS Biochemistry:
- nucleoporin p62,component of the nuclear pore complex,yeast NSP1 homolog
Phenotypes From GWAS Catalog for NUP62 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | NAS | -- |
| GO:0005515 | protein binding | IPI | 7744965 |
| GO:0005543 | phospholipid binding | IBA | 21873635 |
| GO:0017056 | structural constituent of nuclear pore | IEA,IBA | 21873635 |
| GO:0019894 | kinesin binding | IEA | -- |
Phenotypes for NUP62 Gene
- MGI mutant phenotypes for NUP62:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for NUP62:
-
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased viability
- Increased gamma-H2AX phosphorylation
- Decreased NF-kappaB reporter expression
- Increased Nanog expression
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Downregulation of Wnt pathway after Wnt3A stimulation
- FOXO1 nuclear localization
- Decreased Sindbis virus (SINV) infection
- Strongly decreased NFAT1-GFP nuclear translocation
- HIV Rev nuclear localization
- Decreased cell number and increased metaphase cell number
- Increased caspase activity
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
- Decreased HIV-1 infection
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
- Nucleoplasmic pre-40S maturation defects
- Increased BBC3 mRNA expression
Animal Models for NUP62 Gene
- MGI Knock Outs for NUP62:
-
- Nup62 Nup62<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NUP62 - Select products 50% OFF >
- * NUP62 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NUP62
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP62
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUP62
miRNA for NUP62 Gene
- miRTarBase miRNAs that target NUP62
-
- mmu-miR-301b-3p (MIRT007958)
- hsa-miR-155-5p (MIRT021011)
- hsa-miR-186-5p (MIRT021129)
- hsa-miR-34a-5p (MIRT025574)
- hsa-miR-1914-5p (MIRT035782)
- hsa-miR-1224-5p (MIRT036552)
- hsa-miR-125a-3p (MIRT038643)
- hsa-miR-93-3p (MIRT038819)
- hsa-miR-615-3p (MIRT040077)
- hsa-miR-18a-3p (MIRT200691)
- hsa-miR-324-3p (MIRT200692)
- hsa-miR-1913 (MIRT200694)
- hsa-miR-3607-5p (MIRT503701)
- hsa-miR-6879-5p (MIRT503702)
- hsa-miR-7843-5p (MIRT503703)
- hsa-miR-6735-5p (MIRT503704)
- hsa-miR-4632-5p (MIRT503705)
- hsa-miR-4436b-3p (MIRT503706)
- hsa-miR-5688 (MIRT503707)
- hsa-miR-495-3p (MIRT503708)
- hsa-miR-6848-3p (MIRT674234)
- hsa-miR-6843-3p (MIRT674235)
- hsa-miR-3187-3p (MIRT674236)
- hsa-miR-4435 (MIRT674237)
- hsa-miR-588 (MIRT674238)
- hsa-miR-4701-5p (MIRT674239)
- hsa-miR-548s (MIRT674240)
- hsa-miR-378a-5p (MIRT674241)
- hsa-miR-452-3p (MIRT674242)
- hsa-miR-6131 (MIRT674243)
- hsa-miR-4707-3p (MIRT674244)
- hsa-miR-4755-3p (MIRT674245)
- hsa-miR-6821-3p (MIRT674246)
- hsa-miR-6790-3p (MIRT674247)
- hsa-miR-3663-5p (MIRT674248)
- hsa-miR-3653-5p (MIRT674249)
- hsa-miR-1199-5p (MIRT735951)
- hsa-miR-1203 (MIRT735964)
- hsa-miR-1255a (MIRT736573)
- hsa-miR-1255b-5p (MIRT736596)
- hsa-miR-1293 (MIRT737156)
- hsa-miR-323a-5p (MIRT741218)
- hsa-miR-363-5p (MIRT741835)
- hsa-miR-3926 (MIRT743016)
- hsa-miR-4483 (MIRT745153)
- hsa-miR-6134 (MIRT752447)
- hsa-miR-6745 (MIRT754462)
- hsa-miR-6748-5p (MIRT754552)
- hsa-miR-6751-3p (MIRT754584)
- hsa-miR-6756-5p (MIRT754807)
- hsa-miR-6762-5p (MIRT754986)
- hsa-miR-6766-5p (MIRT755115)
- hsa-miR-6769a-5p (MIRT755195)
- hsa-miR-6769b-5p (MIRT755242)
- hsa-miR-6800-5p (MIRT756359)
- hsa-miR-6807-5p (MIRT756529)
- hsa-miR-6845-5p (MIRT757413)
- hsa-miR-7854-3p (MIRT759929)
- hsa-miR-1267 (MIRT783262)
- hsa-miR-129-5p (MIRT783551)
- hsa-miR-3672 (MIRT785144)
- hsa-miR-367-5p (MIRT785196)
- hsa-miR-4423-5p (MIRT785810)
- hsa-miR-4524a-3p (MIRT786125)
- hsa-miR-4797-5p (MIRT786834)
- hsa-miR-5007-5p (MIRT786958)
- hsa-miR-593-3p (MIRT787967)
- hsa-miR-6501-5p (MIRT788221)
- hsa-miR-6864-3p (MIRT789149)
- hsa-miR-744-3p (MIRT789483)
- hsa-miR-8055 (MIRT789707)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP62
- Browse OriGene Inhibitory RNA Products For NUP62
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP62
Clone Products
- Applied Biological Materials (abm): Clones for NUP62 - Select products 50% OFF >
- * NUP62 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208443
- MR208443
- MR208443L3
- MR208443L4
- RC204418
- RC204418L1
- RC204418L2
- RC204418L3
- RC204418L4
- RC208727
- RC208727L3
- RC208727L4
- RC210581
- RC210581L1
- RC210581L2
- RC210581L3
- RC210581L4
- RC224883
- RC224883L1
- RC224883L2
- RC224883L3
- RC224883L4
- RC234347
- RG204418
- RG208727
- RG210581
- RG224883
- RG234347
- RR202316
- RR202316L3
- RR202316L4
- MR208443L3V
- MR208443L4V
- RC204418L1V
- RC204418L2V
- RC204418L3V
- RC204418L4V
- RC208727L3V
- RC208727L4V
- RC210581L1V
- RC210581L2V
- RC210581L3V
- RC210581L4V
- RC224883L1V
- RC224883L2V
- RC224883L3V
- RC224883L4V
- RR202316L3V
- RR202316L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NUP62
- Addgene plasmids for NUP62
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP62
Cell Line Products
-
Horizon Cell Lines for NUP62
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NUP62 Gene
Localization for NUP62 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NUP62 Gene
- Nucleus, nuclear pore complex. Cytoplasm, cytoskeleton, spindle pole. Nucleus envelope. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Central region of the nuclear pore, within the transporter (PubMed:1915414). During mitotic cell division, it associates with the poles of the mitotic spindle (PubMed:24107630). {ECO:0000269 PubMed:1915414, ECO:0000269 PubMed:24107630}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 3 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear membrane (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IEA,IDA | 24107630 |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005635 | nuclear envelope | IEA,TAS | -- |
| GO:0005642 | annulate lamellae | IEA | -- |
Pathways & Interactions for NUP62 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of the SLBP independent Mature mRNA |
.55
|
|
| 2 | HIV Life Cycle |
.91
.65
|
.45
|
| 3 | Cell Cycle, Mitotic |
.83
|
.60
|
| 4 | Mitotic Prophase |
.57
|
|
| 5 | Influenza Viral RNA Transcription and Replication | ||
Pathways by source for NUP62 Gene
62 Reactome pathways for NUP62 Gene
1 KEGG pathway for NUP62 Gene
Interacting Proteins for NUP62 Gene
Selected Interacting proteins:
P37198-NUP62_HUMAN
ENSP00000471191
for NUP62 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NUP62
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000278 | mitotic cell cycle | IEA | -- |
| GO:0006110 | regulation of glycolytic process | TAS | -- |
| GO:0006351 | transcription, DNA-templated | IDA | -- |
| GO:0006405 | RNA export from nucleus | IBA | 21873635 |
| GO:0006406 | mRNA export from nucleus | TAS | -- |
Transcripts for NUP62 Gene
mRNA/cDNA for NUP62 Gene
- 5 REFSEQ mRNAs :
- 23 NCBI additional mRNA sequence :
- 23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000352066 3361 nts (view in UCSC)
- ENST00000422090 3479 nts (view in UCSC)
- ENST00000593652 905 nts (view in UCSC)
- ENST00000594673 564 nts (view in UCSC)
- ENST00000595373 601 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NUP62 - Select products 50% OFF >
- * NUP62 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NUP62
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP62
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUP62
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUP62
- Browse OriGene Inhibitory RNA Products For NUP62
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP62
Clone Products
- Applied Biological Materials (abm): Clones for NUP62 - Select products 50% OFF >
- * NUP62 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208443
- MR208443
- MR208443L3
- MR208443L4
- RC204418
- RC204418L1
- RC204418L2
- RC204418L3
- RC204418L4
- RC208727
- RC208727L3
- RC208727L4
- RC210581
- RC210581L1
- RC210581L2
- RC210581L3
- RC210581L4
- RC224883
- RC224883L1
- RC224883L2
- RC224883L3
- RC224883L4
- RC234347
- RG204418
- RG208727
- RG210581
- RG224883
- RG234347
- RR202316
- RR202316L3
- RR202316L4
- MR208443L3V
- MR208443L4V
- RC204418L1V
- RC204418L2V
- RC204418L3V
- RC204418L4V
- RC208727L3V
- RC208727L4V
- RC210581L1V
- RC210581L2V
- RC210581L3V
- RC210581L4V
- RC224883L1V
- RC224883L2V
- RC224883L3V
- RC224883L4V
- RR202316L3V
- RR202316L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NUP62
- Addgene plasmids for NUP62
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUP62
Relevant External Links for NUP62 Gene
- GeneLoc Exon Structure for
- NUP62
Expression for NUP62 Gene
mRNA differential expression in normal tissues according to GTEx for NUP62 Gene
This gene is overexpressed in Testis (x6.6).
This gene is overexpressed in CD8 Tcells (8.0), NK cells (7.3), and Placenta (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP62 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP62
SOURCE GeneReport for Unigene cluster for NUP62 Gene:
Hs.574492Evidence on tissue expression from TISSUES for NUP62 Gene
- Nervous system(5)
- Skin(4.7)
- Blood(4.5)
- Liver(4.4)
- Pancreas(4.2)
- Lung(3.4)
- Intestine(3)
- Eye(2.9)
- Kidney(2.8)
- Muscle(2.3)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP62 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- mouth
- pharynx
Thorax:
- esophagus
Abdomen:
- stomach
Limb:
- foot
- lower limb
General:
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for NUP62
-
OriGene qPCR primer pairs and template standards for NUP62
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NUP62 Gene
Orthologs for NUP62 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NUP62 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NUP62 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IL4I1 30 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | Nup62 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Nup62 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Chicken (Gallus gallus) |
Aves | NUP62 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC394934 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nup62l 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6251 32 |
|
|
|
| Nup62 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NSP1 31 33 |
|
ManyToMany | |
| NUP1 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for NUP62 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for NUP62 Gene
- ENSEMBL:
- Gene Tree for NUP62 (if available)
- TreeFam:
- Gene Tree for NUP62 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NUP62: view image
Paralogs for NUP62 Gene
(2) SIMAP similar genes for NUP62 Gene using alignment to 11 proteins:
- NUP62_HUMAN
- M0QX10_HUMAN
- M0QX13_HUMAN
- M0QX41_HUMAN
- M0QX64_HUMAN
- M0QXN5_HUMAN
- M0QYY0_HUMAN
- M0QZL5_HUMAN
- M0R0B7_HUMAN
- M0R1S1_HUMAN
- M0R302_HUMAN
Variants for NUP62 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP62 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708003 | Benign: not provided | 49,908,948(-) | G/GTGC | INFRAME_INSERTION,INTRON_VARIANT | |
| 713586 | Likely Benign: not provided | 49,909,145(-) | G/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 718162 | Benign: not provided | 49,909,531(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
| 718364 | Likely Benign: not provided | 49,908,425(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 719935 | Benign: not provided | 49,908,290(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv53n68 | CNV | loss | 17160897 |
| dgv54n68 | CNV | loss | 17160897 |
| esv3583457 | CNV | loss | 25503493 |
| esv3644628 | CNV | gain | 21293372 |
| esv3644630 | CNV | gain | 21293372 |
| esv996372 | CNV | deletion | 20482838 |
| nsv1058623 | CNV | gain | 25217958 |
| nsv1065648 | CNV | gain | 25217958 |
| nsv1140251 | OTHER | inversion | 24896259 |
| nsv458720 | CNV | gain | 19166990 |
| nsv579910 | CNV | gain | 21841781 |
| nsv7309 | OTHER | inversion | 18451855 |
| nsv953600 | CNV | deletion | 24416366 |
| nsv9739 | CNV | gain+loss | 18304495 |
Residual Variation Intolerance Score:
25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.50;
71.81% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NUP62 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP62 Gene
Disorders for NUP62 Gene
(6) MalaCards diseases for NUP62 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| striatonigral degeneration, infantile |
|
|
| familial infantile bilateral striatal necrosis |
|
|
| striatonigral degeneration |
|
|
| achalasia-addisonianism-alacrima syndrome |
|
|
| parotid gland cancer |
|
|
Search NUP62 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NUP62_HUMAN- Infantile striatonigral degeneration (SNDI) [MIM:271930]: Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. {ECO:0000269 PubMed:16786527}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NUP62
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for NUP62 Gene
Publications for NUP62 Gene
- Human nucleoporin p62 and the essential yeast nuclear pore protein NSP1 show sequence homology and a similar domain organization. (PMID: 1915414) Carmo-Fonseca M … Hurt EC (European journal of cell biology 1991) 2 3 4 23
- Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. (PMID: 16786527) Basel-Vanagaite L … Shohat M (Annals of neurology 2006) 3 4 23
- Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. (PMID: 30543681) Bonnin E … Fahrenkrog B (PLoS genetics 2018) 3 4
- GANP regulates recruitment of AID to immunoglobulin variable regions by modulating transcription and nucleosome occupancy. (PMID: 23652018) Singh SK … Sakaguchi N (Nature communications 2013) 3 4
- Nucleoporin Nup62 maintains centrosome homeostasis. (PMID: 24107630) Hashizume C … Wong RW (Cell cycle (Georgetown, Tex.) 2013) 3 4
ExternalLinks
Products for NUP62 Gene
- Custom Antibody Services
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- RR202316
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- MR208443L3V
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- RC204418L1V
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- RC224883L1V
- RC224883L2V
- RC224883L3V
- RC224883L4V
- RR202316L3V
- RR202316L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- VectorBuilder Custom and pre-made DNA vectors for NUP62 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NUP62 (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Virus packaging for NUP62 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NUP62
- Addgene plasmids for NUP62
- antibodies-online: Show 19 available NUP62 Antibodies ranked by validation data
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- antibodies-online: Show 16 available NUP62 Elisa Kits ranked by validation data
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- antibodies-online: Show 8 available NUP62 Proteins ranked by validation data
- Compare Top NUP62 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for NUP62
- Search Santa Cruz Biotechnology (SCBT) for NUP62 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NUP62
- Search for NUP62 Antibodies at ProSci
- Custom Antibody Services
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- Horizon Cell Lines for NUP62
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUP62
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for NUP62
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP62
Sources for NUP62 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological