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Aliases for NUP214 Gene

Aliases for NUP214 Gene

  • Nucleoporin 214 2 3 5
  • Nuclear Pore Complex Protein Nup214 2 3
  • CAN Protein, Putative Oncogene 2 3
  • Nucleoporin 214kDa 2 3
  • CAIN 3 4
  • CAN 3 4
  • Nucleoporin 214kD (CAIN) 2
  • 214 KDa Nucleoporin 4
  • Nucleoporin Nup214 4
  • Protein CAN 4
  • KIAA0023 4

External Ids for NUP214 Gene

Previous GeneCards Identifiers for NUP214 Gene

  • GC09P125015
  • GC09P125547
  • GC09P127354
  • GC09P129277
  • GC09P131031
  • GC09P132990
  • GC09P134000
  • GC09P103491

Summaries for NUP214 Gene

Entrez Gene Summary for NUP214 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. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for NUP214 Gene

NUP214 (Nucleoporin 214) is a Protein Coding gene. Diseases associated with NUP214 include Acute Myeloid Leukemia With T(6;9)(P23;Q34) and Leukemia, Acute Lymphoblastic. Among its related pathways are Interferon gamma signaling and Transport of the SLBP independent Mature mRNA. GO annotations related to this gene include transporter activity and nucleocytoplasmic transporter activity.

UniProtKB/Swiss-Prot for NUP214 Gene

  • May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex.

Gene Wiki entry for NUP214 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUP214 Gene

Genomics for NUP214 Gene

Regulatory Elements for NUP214 Gene

Enhancers for NUP214 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F131263 1.4 FANTOM5 ENCODE 12.7 +146.7 146721 15.8 HDGF PKNOX1 MLX WRNIP1 ARID4B DMAP1 ETS1 ZNF143 ZNF263 SP3 PLPP7 NUP214 ENSG00000246851 FAM78A QRFP RAPGEF1 GC09P131253
GH09F131100 1.2 Ensembl ENCODE 11.3 -22.5 -22546 4.3 HDGF PKNOX1 ARID4B DMAP1 ZNF48 YY1 ZNF121 SP5 NFYC MXD4 AIF1L RNU6-881P NUP214 QRFP PIR35044
GH09F131287 1.2 ENCODE 11.1 +164.3 164266 4.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000246851 PLPP7 NUP214 FAM78A
GH09F131282 1.1 Ensembl ENCODE 11.1 +158.1 158096 1.4 INSM2 ZNF266 YBX1 GLI4 ZKSCAN1 ZEB1 ZFHX2 GLIS2 POLR2A SCRT2 ENSG00000246851 NUP214 PLPP7 FAM78A
GH09F131330 1.1 ENCODE 11.1 +206.2 206199 1.7 HDGF PKNOX1 ARNT ZNF263 REST MEF2D SMARCA4 GLIS1 NBN KDM1A PLPP7 ENSG00000246851 NUP214 POMT1 ENSG00000176868 LOC105376299
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUP214 on UCSC Golden Path with GeneCards custom track

Promoters for NUP214 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001316166 641 2001 PKNOX1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF207 ZNF143 FOS

Transcription factor binding sites by QIAGEN in the NUP214 gene promoter:

Genomic Location for NUP214 Gene

Chromosome:
9
Start:
131,124,959 bp from pter
End:
131,234,670 bp from pter
Size:
109,712 bases
Orientation:
Plus strand

Genomic View for NUP214 Gene

Genes around NUP214 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP214 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP214 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP214 Gene

Proteins for NUP214 Gene

  • Protein details for NUP214 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35658-NU214_HUMAN
    Recommended name:
    Nuclear pore complex protein Nup214
    Protein Accession:
    P35658
    Secondary Accessions:
    • A6NFQ0
    • Q15010
    • Q3KQZ0
    • Q5JUP7
    • Q75R47
    • Q86XD3

    Protein attributes for NUP214 Gene

    Size:
    2090 amino acids
    Molecular mass:
    213620 Da
    Quaternary structure:
    • Homodimer. Interacts with NUP214; this interaction increases upon lipopolysaccharide (LPS) stimulation (PubMed:14766228). Interacts with DDX19 (PubMed:19219046, PubMed:19208808). Interacts with NUP88 (PubMed:9049309). Interacts with XPO1 (PubMed:9049309). Interacts with XPO5 (PubMed:11777942).
    • (Microbial infection) Interacts with human herpes virus 1 (HHV-1) protein UL25; this interaction might be essential to the capsid docking onto the host nuclear pore.
    SequenceCaution:
    • Sequence=BAD07398.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP214 Gene

    Alternative splice isoforms for NUP214 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUP214 Gene

Post-translational modifications for NUP214 Gene

  • Probably glycosylated as it reacts with wheat germ agglutinin (WGA).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NUP214 Gene

Domains & Families for NUP214 Gene

Gene Families for NUP214 Gene

Protein Domains for NUP214 Gene

Graphical View of Domain Structure for InterPro Entry

P35658

UniProtKB/Swiss-Prot:

NU214_HUMAN :
  • Contains FG repeats.
Domain:
  • Contains FG repeats.
  • The beta-propeller contains long interblade connector loops, and mediates interaction with DDX19B.
genes like me logo Genes that share domains with NUP214: view

Function for NUP214 Gene

Molecular function for NUP214 Gene

GENATLAS Biochemistry:
nucleoporin,involved in nucleocytoplasmic transport processes and cell cycle progression
UniProtKB/Swiss-Prot Function:
May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex.

Gene Ontology (GO) - Molecular Function for NUP214 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005049 nuclear export signal receptor activity IDA 10358091
GO:0005487 nucleocytoplasmic transporter activity IEA --
GO:0005515 protein binding IPI 11545741
GO:0008139 nuclear localization sequence binding IBA --
GO:0017056 structural constituent of nuclear pore IBA --
genes like me logo Genes that share ontologies with NUP214: view
genes like me logo Genes that share phenotypes with NUP214: view

Human Phenotype Ontology for NUP214 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NUP214 Gene

MGI Knock Outs for NUP214:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NUP214 Gene

Localization for NUP214 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP214 Gene

Nucleus, nuclear pore complex. Note=Cytoplasmic filaments.

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 NUP214 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NUP214 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005643 nuclear pore IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IDA --
genes like me logo Genes that share ontologies with NUP214: view

Pathways & Interactions for NUP214 Gene

SuperPathways for NUP214 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 NUP214: view

SIGNOR curated interactions for NUP214 Gene

Activates:

Gene Ontology (GO) - Biological Process for NUP214 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006405 RNA export from nucleus IBA --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA --
GO:0006611 protein export from nucleus IMP 12191473
genes like me logo Genes that share ontologies with NUP214: view

Drugs & Compounds for NUP214 Gene

(1) Additional Compounds for NUP214 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NUP214: view

Transcripts for NUP214 Gene

Unigene Clusters for NUP214 Gene

Nucleoporin 214kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUP214 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b · 32c ^ 33a · 33b ^ 34
SP1: - - - - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8: -
SP9:
SP10: -
SP11: -

Relevant External Links for NUP214 Gene

GeneLoc Exon Structure for
NUP214
ECgene alternative splicing isoforms for
NUP214

Expression for NUP214 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP214 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUP214 Gene

This gene is overexpressed in CD8 Tcells (13.0), Peripheral blood mononuclear cells (8.4), and Lymph node (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NUP214 Gene



Protein tissue co-expression partners for NUP214 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUP214 Gene:

NUP214

SOURCE GeneReport for Unigene cluster for NUP214 Gene:

Hs.654530

mRNA Expression by UniProt/SwissProt for NUP214 Gene:

P35658-NU214_HUMAN
Tissue specificity: Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.
genes like me logo Genes that share expression patterns with NUP214: view

Primer Products

No data available for mRNA differential expression in normal tissues for NUP214 Gene

Orthologs for NUP214 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP214 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUP214 34 35
  • 98.83 (n)
dog
(Canis familiaris)
Mammalia NUP214 34 35
  • 85.84 (n)
cow
(Bos Taurus)
Mammalia NUP214 34 35
  • 84.7 (n)
rat
(Rattus norvegicus)
Mammalia Nup214 34
  • 81.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nup214 34 16 35
  • 80.97 (n)
oppossum
(Monodelphis domestica)
Mammalia NUP214 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUP214 34 35
  • 68.45 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 80 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3884 34
African clawed frog
(Xenopus laevis)
Amphibia MGC52541 34
zebrafish
(Danio rerio)
Actinopterygii nup214 35
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nup214 36 35
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea npp-14 35
  • 20 (a)
OneToOne
Species where no ortholog for NUP214 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 NUP214 Gene

ENSEMBL:
Gene Tree for NUP214 (if available)
TreeFam:
Gene Tree for NUP214 (if available)

Paralogs for NUP214 Gene

genes like me logo Genes that share paralogs with NUP214: view

No data available for Paralogs for NUP214 Gene

Variants for NUP214 Gene

Sequence variations from dbSNP and Humsavar for NUP214 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs777822003 A breast cancer sample 131,197,627(+) CCCCC(C/G/T)GGTGT nc-transcript-variant, reference, missense
VAR_035856 A breast cancer sample
VAR_035858 A breast cancer sample
rs10117258 -- 131,224,284(+) AAAAC(A/G)TGTAC intron-variant
rs10118555 -- 131,196,698(+) tactg(C/T)CTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NUP214 Gene

Variant ID Type Subtype PubMed ID
nsv831739 CNV loss 17160897
nsv831738 CNV loss 17160897
nsv831737 CNV loss 17160897
nsv819444 CNV loss 19587683
nsv1038530 CNV gain 25217958
esv7289 CNV gain 19470904
esv3621874 CNV loss 21293372
esv3621873 CNV loss 21293372
esv3621866 CNV gain 21293372
esv2759717 CNV loss 17122850
esv275417 CNV gain+loss 21479260

Variation tolerance for NUP214 Gene

Residual Variation Intolerance Score: 5.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 59.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUP214 Gene

Human Gene Mutation Database (HGMD)
NUP214
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP214

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUP214 Gene

Disorders for NUP214 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NUP214 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acute myeloid leukemia with t(6;9)(p23;q34)
  • aml with t(6;9)(p23;q34)
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
myeloid leukemia
  • leukemia myelogenous
plasma cell neoplasm
  • plasma cell dyscrasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU214_HUMAN
  • Note=A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a DEK-CAN fusion gene. {ECO:0000269 PubMed:1549122}.
  • Note=A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET. {ECO:0000269 PubMed:1630450}.

Relevant External Links for NUP214

Genetic Association Database (GAD)
NUP214
Human Genome Epidemiology (HuGE) Navigator
NUP214
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUP214
genes like me logo Genes that share disorders with NUP214: view

No data available for Genatlas for NUP214 Gene

Publications for NUP214 Gene

  1. The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm. (PMID: 8108440) Kraemer D. … Radu A. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  2. Direct association of tristetraprolin with the nucleoporin CAN/Nup214. (PMID: 14766228) Carman J.A. … Nadler S.G. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The mRNA export protein DBP5 binds RNA and the cytoplasmic nucleoporin NUP214 in a mutually exclusive manner. (PMID: 19219046) von Moeller H. … Conti E. (Nat. Struct. Mol. Biol. 2009) 3 4 64
  5. Oncogenic nucleoporin CAN/Nup214 interacts with vitamin D receptor and modulates its function. (PMID: 19229862) Miyauchi Y. … Michigami T. (J. Cell. Biochem. 2009) 3 22 64

Products for NUP214 Gene

Sources for NUP214 Gene

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