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 local... See more...

Aliases for NUP214 Gene

Aliases for NUP214 Gene

  • Nucleoporin 214 2 3 5
  • Nuclear Pore Complex Protein Nup214 2 3 4
  • CAIN 2 3 4
  • CAN 2 3 4
  • CAN Protein, Putative Oncogene 2 3
  • Nucleoporin 214kDa 2 3
  • Nucleoporin 214kD (CAIN) 2
  • 214 KDa Nucleoporin 4
  • Nucleoporin Nup214 4
  • Protein CAN 4
  • KIAA0023 4
  • NUP214 5
  • D9S46E 2
  • IIAE9 3
  • N214 2

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 Encephalopathy, Acute, Infection-Induced 9 and Acute Myeloid Leukemia With T(6;9)(P23;Q34). 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 transporter activity. An important paralog of this gene is POM121.

UniProtKB/Swiss-Prot Summary for NUP214 Gene

  • Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440).
  • (Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro).

Gene Wiki entry for NUP214 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP214 Gene

Genomics for NUP214 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP214 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
GH09J131124 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.1 144 2.7 BCLAF1 SP1 ZNF207 ZNF600 SSRP1 ZNF580 ATF2 POLR2A CEBPA ZSCAN16 HSALNG0074849 NUP214 RF00026-1102 RNU6-881P lnc-FAM78A-6 EXOSC2 AIF1L ENSG00000246851 FAM78A ABL1
GH09J131190 Promoter 0.3 EPDnew 250.2 +64.5 64534 0.1 NUP214 ENSG00000246851 HSALNG0074851 FAM78A RF00017-7410
GH09J131192 Promoter 0.3 EPDnew 250.2 +66.6 66592 0.1 NUP214 ENSG00000246851 HSALNG0074851 FAM78A RF00017-7410
GH09J131263 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.5 +146.1 146094 15.8 BCLAF1 ZNF207 ZNF600 CEBPA ZIC2 ZBTB10 ZNF592 ETS1 ZNF341 ZEB1 FAM78A NUP214 PLPP7 ENSG00000246851 QRFP RAPGEF1 HSALNG0074861 HSALNG0074863 lnc-FAM78A-4 RF00017-7410
GH09J130444 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.4 -677.1 -677124 8.5 MYC ZNF600 JUND ZNF592 ZMYM3 ATF2 CEBPA ATF3 ZSCAN16 NFIC ASS1 SNODB1213 NUP214 EXOSC2 ENSG00000246851 FUBP3 TOR1B ENSG00000236986
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP214 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP214

Top Transcription factor binding sites by QIAGEN in the NUP214 gene promoter:
  • AML1a

Genomic Locations for NUP214 Gene

Latest Assembly
chr9:131,125,586-131,234,663
(GRCh38/hg38)
Size:
109,078 bases
Orientation:
Plus strand

Previous Assembly
chr9:134,000,973-134,110,050
(GRCh37/hg19 by Entrez Gene)
Size:
109,078 bases
Orientation:
Plus strand

chr9:134,000,948-134,110,057
(GRCh37/hg19 by Ensembl)
Size:
109,110 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. Part of the nuclear pore complex (NPC) (PubMed:9049309). Interacts with NUP88 (PubMed:9049309, PubMed:30543681). Interacts with ZFP36; this interaction increases upon lipopolysaccharide (LPS) stimulation (PubMed:14766228). Interacts with DDX19 (PubMed:19219046, PubMed:19208808). 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.
    • (Microbial infection) Interacts (via N-terminus) with human adenovirus 5 (HAdV-5) protein L3 (hexon); this interaction might be essential for the release of the virus genome to the nucleus.
    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).
  • Glycosylation at Thr580, Ser1056, Thr1201, and Ser1354
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NU214_HUMAN (2843)

Antibodies for research

  • Abcam antibodies for NUP214

No data available for DME Specific Peptides for NUP214 Gene

Domains & Families for NUP214 Gene

Gene Families for NUP214 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for NUP214 Gene

Suggested Antigen Peptide Sequences for NUP214 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52377, highly similar to Nuclear pore complex protein Nup214 (B4DZN4_HUMAN)
  • cDNA, FLJ79316, highly similar to Nuclear pore complex protein Nup214 (B7ZAV2_HUMAN)
  • Protein CAN (NU214_HUMAN)
  • Nucleoporin 214kDa (Q5JUP9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35658

UniProtKB/Swiss-Prot:

NU214_HUMAN :
  • Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
Domain:
  • Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited.
  • 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

UniProtKB/Swiss-Prot Function:
Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro).
GENATLAS Biochemistry:
nucleoporin,involved in nucleocytoplasmic transport processes and cell cycle progression

Phenotypes From GWAS Catalog for NUP214 Gene

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:0005515 protein binding IEA,IPI 11545741
GO:0008139 nuclear localization sequence binding IBA 21873635
GO:0017056 structural constituent of nuclear pore IEA,IBA 21873635
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP214

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 side of the nuclear pore complex. {ECO:0000269 PubMed:8108440}.

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 4
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Focal adhesion sites (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUP214 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005643 nuclear pore IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NUP214: view

Pathways & Interactions for NUP214 Gene

PathCards logo

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:0000055 ribosomal large subunit export from nucleus IEA --
GO:0000056 ribosomal small subunit export from nucleus IEA --
GO:0000278 mitotic cell cycle IEA --
GO:0006110 regulation of glycolytic process TAS --
GO:0006405 RNA export from nucleus IBA 21873635
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

mRNA/cDNA for NUP214 Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
32 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 NUP214

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

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, MaxQB, and MOPED for NUP214 Gene



Protein tissue co-expression partners for NUP214 Gene

- Elite partner

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

Evidence on tissue expression from TISSUES for NUP214 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Blood(2.8)
  • Bone marrow(2.5)
  • Kidney(2.4)
  • Skin(2.3)
  • Intestine(2.2)
  • Spleen(2.1)
  • Heart(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP214 Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with NUP214: view

Primer products for research

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 29 30
  • 98.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUP214 29 30
  • 85.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NUP214 29 30
  • 84.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup214 29
  • 81.01 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 81 (a)
OneToMany
-- 30
  • 64 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Nup214 29 16 30
  • 80.97 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NUP214 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NUP214 29 30
  • 68.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 80 (a)
OneToMany
-- 30
  • 63 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC52541 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.3884 29
Zebrafish
(Danio rerio)
Actinopterygii nup214 30
  • 43 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Nup214 30 31
  • 26 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea npp-14 30
  • 20 (a)
OneToOne
Species where no ortholog for NUP214 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for NUP214: view image
Alliance of Genome Resources:
Additional Orthologs for NUP214

Paralogs for NUP214 Gene

Paralogs for NUP214 Gene

(1) SIMAP similar genes for NUP214 Gene using alignment to 10 proteins:

  • NU214_HUMAN
  • B7ZAV2_HUMAN
  • E9PKD2_HUMAN
  • E9PS86_HUMAN
  • H0Y837_HUMAN
  • H0YDH2_HUMAN
  • H0YDI2_HUMAN
  • H0YDS4_HUMAN
  • H0YED3_HUMAN
  • H0YF36_HUMAN
genes like me logo Genes that share paralogs with NUP214: view

Variants for NUP214 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP214 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1018569 Uncertain Significance: not provided 131,174,159(+) C/T
NM_005085.4(NUP214):c.2998C>T (p.Arg1000Trp)
MISSENSE
1026498 Uncertain Significance: not provided 131,136,004(+) C/A
NM_005085.4(NUP214):c.1003C>A (p.Gln335Lys)
MISSENSE
1028855 Uncertain Significance: Encephalopathy, acute, infection-induced, susceptibility to, 9 131,127,594(+) C/T
NM_005085.4(NUP214):c.116C>T (p.Ser39Leu)
MISSENSE
1048608 Uncertain Significance: Encephalopathy, acute, infection-induced, susceptibility to, 9 131,144,397(+) C/T
MISSENSE
1048609 Uncertain Significance: Encephalopathy, acute, infection-induced, susceptibility to, 9 131,178,335(+) C/T
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NUP214 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 NUP214 Gene

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

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)

Additional Variant Information for NUP214 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for NUP214 Gene

MalaCards: The human disease database

(14) MalaCards diseases for NUP214 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
encephalopathy, acute, infection-induced 9
  • encephalopathy, acute, infection-induced, susceptibility to, 9
acute myeloid leukemia with t(6;9)(p23;q34)
  • aml with t(6;9)(p23;q34)
leukemia, acute myeloid
  • aml
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
acid-labile subunit deficiency
  • aclsd
- 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}.
  • Encephalopathy, acute, infection-induced, 9 (IIAE9) [MIM:618426]: An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection-induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. {ECO:0000269 PubMed:30758658, ECO:0000269 PubMed:31178128}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Note=Chromosomal aberrations involving NUP214 are found in acute lymphoblastic leukemia (PubMed:20851865, PubMed:15361874). Translocation t(9;9)(q34;q34) with ABL1 (PubMed:15361874). Translocation t(5;9)(q35;q34) with SQSTM1 (PubMed:20851865). {ECO:0000269 PubMed:15361874, ECO:0000269 PubMed:20851865}.

Additional Disease Information for NUP214

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 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 (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22
  2. NUP214 deficiency causes severe encephalopathy and microcephaly in humans. (PMID: 30758658) Shamseldin HE … Alkuraya FS (Human genetics 2019) 3 4 72
  3. Direct association of tristetraprolin with the nucleoporin CAN/Nup214. (PMID: 14766228) Carman JA … Nadler SG (Biochemical and biophysical research communications 2004) 3 4 22
  4. Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. (PMID: 15361874) Graux C … Hagemeijer A (Nature genetics 2004) 3 4 22
  5. Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. (PMID: 31178128) Fichtman B … Edvardson S (American journal of human genetics 2019) 3 4

Products for NUP214 Gene

Sources for NUP214 Gene