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Nup214 Gene Detail
Summary
  • Symbol
    Nup214
  • Name
    nucleoporin 214
  • Synonyms
    CAN, D2H9S46E
  • Feature Type
    protein coding gene
  • IDs
    MGI:1095411
    NCBI Gene: 227720
Location & Maps
more
  • Sequence Map
    Chr2:31974436-32053975 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      79540 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NUP214, nucleoporin 214kDa
  • Vertebrate Orthologs
    8
  • Human Ortholog
    NUP214, nucleoporin 214kDa
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAIN, CAN
  • Links
    NCBI Gene ID: 8021
    neXtProt AC: NX_P35658

  • Chr Location
    9q34.1; chr9:131124959-131234670 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human NUP214 associations

Human Disease Mouse Models
       Leukemia, Acute Lymphoblastic; ALL   OMIM: 613065
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    13 phenotypes from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    55
  • Gene trapped
    51
  • Targeted
    3
  • Transgenic
    1
  • Incidental Mutations
Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012954 VEGA Gene Model | MGI Sequence Detail 79540 C57BL/6J ±  kb
transcript OTTMUST00000031160 VEGA | MGI Sequence Detail 6605 Not Applicable  
polypeptide OTTMUSP00000013944 VEGA | MGI Sequence Detail 2085 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    241 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000011515 nuclear pore complex protein Nup214
  • InterPro Domains
    IPR001680 WD40 repeat
    IPR015943 WD40/YVTN repeat-like-containing domain
Molecular
Reagents
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  • All nucleic 9
    cDNA 8
    Other 1

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-5812, MGI:2446288, MGI:91943
References
more
  • Summaries
    All 35
    Developmental Gene Expression 3
    Gene Ontology 5
    Phenotypes 9
  • Earliest
    J:14384 Copeland NG, et al., A genetic linkage map of the mouse: current applications and future prospects [see comments]. Science. 1993 Oct 1;262(5130):57-66
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory