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Gene : NUP214 Homo sapiens

Name  ? nucleoporin 214 Cytological Location  9q34.13
Brief Description  nucleoporin 214
description  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]
  • synonyms:
  • NM_005085,
  • X64228,
  • D9S46E,
  • CAN,
  • N214,
  • CAN,
  • nucleoporin 214kD (CAIN),
  • CAIN,
  • OTTHUMG00000020816,
  • CAN protein, putative oncogene,
  • HGNC:8064,
  • uc004cag.4,
  • NUP214,
  • CAIN,
  • nucleoporin 214kDa,
  • nuclear pore complex protein Nup214
  • identifiers:
  • 8021,
  • ENSG00000126883,
  • NUP214

Genome feature

Region: gene ? Length: 109110  
Location: 9:131125561-131234670 Cyto location: 9q34.13


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Function

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71 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

71 Pathways

102 SN Ps

5 Cross References

18 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results