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 membrane-spanning glycoprotein that is a major component of the nuc... See more...

Aliases for NUP210 Gene

Aliases for NUP210 Gene

  • Nucleoporin 210 2 3 5
  • POM210 2 3 4
  • Nuclear Envelope Pore Membrane Protein POM 210 3 4
  • Nuclear Pore Membrane Glycoprotein 210 3 4
  • Pore Membrane Protein Of 210 KDa 3 4
  • Nuclear Pore Protein Gp210 3 4
  • Nucleoporin 210kDa 2 3
  • Nucleoporin Nup210 3 4
  • KIAA0906 2 4
  • GP210 2 3
  • FLJ22389 2
  • NUP210 5

External Ids for NUP210 Gene

Previous GeneCards Identifiers for NUP210 Gene

  • GC03U990118
  • GC03M013297
  • GC03M013332
  • GC03M013420
  • GC03M013548
  • GC03M013607
  • GC03M013634
  • GC03M014743
  • GC03M014844
  • GC03M014894
  • GC03M015402
  • GC03M013756
  • GC03M013880
  • GC03M013994
  • GC03M014114
  • GC03M014241
  • GC03M014362
  • GC03M014483
  • GC03M014612
  • GC03M015777
  • GC03M016107

Summaries for NUP210 Gene

Entrez Gene Summary for NUP210 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 membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]

GeneCards Summary for NUP210 Gene

NUP210 (Nucleoporin 210) is a Protein Coding gene. Diseases associated with NUP210 include Primary Biliary Cholangitis and Cholangitis. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein dimerization activity. An important paralog of this gene is NUP210L.

UniProtKB/Swiss-Prot Summary for NUP210 Gene

  • Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP210 Gene

Genomics for NUP210 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP210 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J013412 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 262.5 +2.7 2651 10 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC ZNF600 ZNF592 KLF9 POLR2A NUP210 IQSEC1 HSALNG0024276 piR-57460-469
GH03J013351 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.6 +67.1 67122 2.4 MYC NCOR1 IKZF1 ZNF592 MNT CTCF ARNT NBN TAL1 NKRF HSALNG0024275 NUP210 HDAC11 HDAC11-AS1 piR-57460-469 IQSEC1
GH03J013331 Enhancer 1.1 Ensembl ENCODE dbSUPER 20.9 +87.8 87786 2.3 SP1 ZIC2 BCL11A ZNF592 TRIM22 NR2C1 IRF4 EBF1 BHLHE40 ELF1 NUP210 HSALNG0024270 lnc-IQSEC1-6 IQSEC1
GH03J013450 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 8.9 -31.7 -31659 2.1 SP1 ZNF654 IKZF1 ZNF600 ZNF580 ZNF592 KLF9 POLR2A CHD4 YY1 lnc-HDAC11-4 XPC-AS1 XPC NUP210 piR-39099-151 HDAC11
GH03J013363 Enhancer 0.6 Ensembl dbSUPER 21.2 +54.9 54912 1.2 MAFK ZNF48 GLIS1 RCOR2 CTCF KDM1A NUP210 IQSEC1 piR-57460-469 HSALNG0024276
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP210 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP210

Top Transcription factor binding sites by QIAGEN in the NUP210 gene promoter:
  • AREB6
  • E47
  • GATA-1
  • HEN1
  • HSF1 (long)
  • HSF1short
  • Lmo2
  • Nkx5-1
  • RP58

Genomic Locations for NUP210 Gene

Latest Assembly
chr3:13,316,235-13,420,322
(GRCh38/hg38)
Size:
104,088 bases
Orientation:
Minus strand

Previous Assembly
chr3:13,357,735-13,461,822
(GRCh37/hg19 by Entrez Gene)
Size:
104,088 bases
Orientation:
Minus strand

chr3:13,357,737-13,461,809
(GRCh37/hg19 by Ensembl)
Size:
104,073 bases
Orientation:
Minus strand

Genomic View for NUP210 Gene

Genes around NUP210 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP210 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP210 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP210 Gene

Proteins for NUP210 Gene

  • Protein details for NUP210 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEM1-PO210_HUMAN
    Recommended name:
    Nuclear pore membrane glycoprotein 210
    Protein Accession:
    Q8TEM1
    Secondary Accessions:
    • A6NN56
    • O94980
    • Q6NXG6
    • Q8NBJ1
    • Q9H6C8
    • Q9UFP3

    Protein attributes for NUP210 Gene

    Size:
    1887 amino acids
    Molecular mass:
    205111 Da
    Quaternary structure:
    • Forms dimers and possibly higher-order oligomers.
    SequenceCaution:
    • Sequence=BAB15332.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11688.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Recognized by antinuclear autoantibodies in primary biliary cirrhosis.
    • Knockdown of NUP210 causes nuclear membranes to accumulate aberrant structures termed twinned and fusion-arrested membranes and nuclear pore complex to cluster. Induces cell death and chromatin disruptions.

    Alternative splice isoforms for NUP210 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP210 Gene

Post-translational modifications for NUP210 Gene

  • N-glycosylated, but not all potential glycosylation sites may be used. Contains high-mannose type oligosaccharides (By similarity).
  • Phosphorylated at Ser-1881 in mitosis specifically; not phosphorylated in interphase.
  • Glycosylation at Asn44, Asn337, Asn405, Asn484, Asn681, Asn801, Asn926, Asn1039, Asn1116, Asn1135, Asn1362, and Asn1441
  • Ubiquitination at Lys32, Lys79, Lys201, Lys212, Lys228, Lys774, Lys1020, Lys1063, Lys1258, Lys1576, Lys1724, and Lys1872
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PO210_HUMAN (1579)

Antibodies for research

  • Abcam antibodies for NUP210
  • Boster Bio Antibodies for NUP210

Protein products for research

  • Abcam proteins for NUP210

No data available for DME Specific Peptides for NUP210 Gene

Domains & Families for NUP210 Gene

Gene Families for NUP210 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for NUP210 Gene

InterPro:
Blocks:
  • Bacterial Ig-like, group 2

Suggested Antigen Peptide Sequences for NUP210 Gene

GenScript: Design optimal peptide antigens:
  • Pore membrane protein of 210 kDa (PO210_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TEM1

UniProtKB/Swiss-Prot:

PO210_HUMAN :
  • Belongs to the NUP210 family.
Family:
  • Belongs to the NUP210 family.
genes like me logo Genes that share domains with NUP210: view

Function for NUP210 Gene

Molecular function for NUP210 Gene

UniProtKB/Swiss-Prot Function:
Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity.

Phenotypes From GWAS Catalog for NUP210 Gene

genes like me logo Genes that share phenotypes with NUP210: view

Animal Models for NUP210 Gene

MGI Knock Outs for NUP210:
  • Nup210 Nup210<tm1a(EUCOMM)Hmgu>
  • Nup210 Nup210<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP210

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NUP210 Gene

Localization for NUP210 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP210 Gene

Nucleus, nuclear pore complex. Nucleus membrane. Single-pass type I membrane protein. Endoplasmic reticulum membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP210 gene
Compartment Confidence
nucleus 4
plasma membrane 3
mitochondrion 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NUP210 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with NUP210: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUP210 Gene

Pathways & Interactions for NUP210 Gene

PathCards logo

SuperPathways for NUP210 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP210: view

SIGNOR curated interactions for NUP210 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NUP210 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0015031 protein transport IEA --
GO:0016032 viral process TAS --
genes like me logo Genes that share ontologies with NUP210: view

Drugs & Compounds for NUP210 Gene

No Compound Related Data Available

Transcripts for NUP210 Gene

mRNA/cDNA for NUP210 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP210

Alternative Splicing Database (ASD) splice patterns (SP) for NUP210 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^
SP1: - - -
SP2:
SP3:
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for NUP210 Gene

GeneLoc Exon Structure for
NUP210

Expression for NUP210 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP210 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NUP210 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for NUP210 Gene

This gene is overexpressed in Nasal epithelium (24.5), Peripheral blood mononuclear cells (9.4), and Tlymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP210 Gene



Protein tissue co-expression partners for NUP210 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP210

SOURCE GeneReport for Unigene cluster for NUP210 Gene:

Hs.475525

mRNA Expression by UniProt/SwissProt for NUP210 Gene:

Q8TEM1-PO210_HUMAN
Tissue specificity: Ubiquitous expression, with highest levels in lung, liver, pancreas, testis, and ovary, intermediate levels in brain, kidney, and spleen, and lowest levels in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for NUP210 Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Spleen(4.4)
  • Lung(4.3)
  • Intestine(3.1)
genes like me logo Genes that share expression patterns with NUP210: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP210 Gene

Orthologs for NUP210 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP210 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NUP210 29 30
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUP210 29 30
  • 86.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NUP210 29 30
  • 84.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nup210 29 16 30
  • 83.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup210 29
  • 82.56 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 82 (a)
OneToMany
-- 30
  • 73 (a)
OneToMany
-- 30
  • 60 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia NUP210 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NUP210 29 30
  • 68.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NUP210 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nup210 29
  • 64.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii nup210 29 30
  • 63.61 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta gp210 29 30
  • 43.12 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006280 29
  • 42.61 (n)
Worm
(Caenorhabditis elegans)
Secernentea npp-12 29 30
  • 40.08 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToMany
Species where no ortholog for NUP210 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)

Evolution for NUP210 Gene

ENSEMBL:
Gene Tree for NUP210 (if available)
TreeFam:
Gene Tree for NUP210 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP210: view image
Alliance of Genome Resources:
Additional Orthologs for NUP210

Paralogs for NUP210 Gene

Paralogs for NUP210 Gene

(1) SIMAP similar genes for NUP210 Gene using alignment to 1 proteins:

  • PO210_HUMAN
genes like me logo Genes that share paralogs with NUP210: view

Variants for NUP210 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP210 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs114096350 Benign: not provided 13,339,919(-) C/T
NM_024923.4(NUP210):c.3406G>A (p.Gly1136Ser)
MISSENSE
rs147038229 Uncertain Significance: not provided 13,336,863(-) T/C
NM_024923.4(NUP210):c.3608A>G (p.Asn1203Ser)
MISSENSE
rs184918689 Likely Benign: not provided 13,343,211(-) C/T
NM_024923.4(NUP210):c.2928G>A (p.Ser976=)
SYNONYMOUS
rs2271502 Benign: not provided 13,343,248(-) A/G
NM_024923.4(NUP210):c.2891T>C (p.Val964Ala)
MISSENSE
rs374356004 Likely Benign: not provided 13,366,059(-) C/T
NM_024923.4(NUP210):c.1819G>A (p.Gly607Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NUP210 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NUP210 Gene

Variant ID Type Subtype PubMed ID
esv2724941 CNV deletion 23290073
esv3366661 CNV insertion 20981092
esv3425589 CNV duplication 20981092
nsv3706 CNV insertion 18451855
nsv589740 CNV loss 21841781
nsv955315 CNV deletion 24416366

Variation tolerance for NUP210 Gene

Residual Variation Intolerance Score: 58.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP210 Gene

Human Gene Mutation Database (HGMD)
NUP210
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP210
Leiden Open Variation Database (LOVD)
NUP210

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP210 Gene

Disorders for NUP210 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NUP210 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
primary biliary cholangitis
  • biliary liver cirrhosis
cholangitis
peliosis hepatis
  • hepatic peliosis
crest syndrome
autoimmune cholangitis
  • autoimmune cholangiopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NUP210

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NUP210: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUP210 Gene

Publications for NUP210 Gene

  1. A major glycoprotein of the nuclear pore complex is a membrane-spanning polypeptide with a large lumenal domain and a small cytoplasmic tail. (PMID: 2184032) Greber UF … Gerace L (The EMBO journal 1990) 2 3 22
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 40
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 40
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4

Products for NUP210 Gene

Sources for NUP210 Gene