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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:31864446-31943204 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 21.97 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1584 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1095411
 protein coding gene Chr2:31864446-31943987 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025594
 protein coding gene Chr2:30373120-30463366 (+)
A/J MGP_AJ_G0025572
 protein coding gene Chr2:29110612-29191221 (+)
AKR/J MGP_AKRJ_G0025541
 protein coding gene Chr2:30109552-30198088 (+)
BALB/cJ MGP_BALBcJ_G0025568
 protein coding gene Chr2:29234738-29313982 (+)
C3H/HeJ MGP_C3HHeJ_G0025329
 protein coding gene Chr2:30029290-30113053 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026013
 protein coding gene Chr2:31318892-31412928 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023421
 protein coding gene Chr2:27848719-27931679 (+)
CAST/EiJ MGP_CASTEiJ_G0024791
 protein coding gene Chr2:29970870-30050303 (+)
CBA/J MGP_CBAJ_G0025306
 protein coding gene Chr2:32480189-32570413 (+)
DBA/2J MGP_DBA2J_G0025439
 protein coding gene Chr2:28880977-28960732 (+)
FVB/NJ MGP_FVBNJ_G0025402
 protein coding gene Chr2:28736312-28820934 (+)
LP/J MGP_LPJ_G0025525
 protein coding gene Chr2:30259878-30345097 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025432
 protein coding gene Chr2:32178574-32263810 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026071
 protein coding gene Chr2:30026753-30109796 (+)
PWK/PhJ MGP_PWKPhJ_G0024538
 protein coding gene Chr2:28773422-28858916 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024338
 protein coding gene Chr2:30170317-30255253 (+)
WSB/EiJ MGP_WSBEiJ_G0024859
 protein coding gene Chr2:30201430-30286065 (+)



Homology
more
  • Human Ortholog
    NUP214, nucleoporin 214
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NUP214, nucleoporin 214
  • Synonyms
    CAIN, CAN, IIAE9
  • Links
    NCBI Gene ID: 8021
    neXtProt AC: NX_P35658
    UniProt: P35658

  • Chr Location
    9q34.13; chr9:131125573-131234663 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human NUP214 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    22
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    710
  • Tissues
    3
  • cDNA Data
    9
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 227720 NCBI Gene Model | MGI Sequence Detail 78759 C57BL/6J ±  kb
    transcript NM_001408097 RefSeq | MGI Sequence Detail 7431 ZRU/MplStud  
    polypeptide Q80U93 UniProt | EBI | MGI Sequence Detail 2085 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000011515 nuclear pore complex protein Nup214
      (term hierarchy)
    • InterPro Domains
      IPR024977 Anaphase-promoting complex subunit 4-like, WD40 domain
      IPR026054 Nuclear pore complex protein
      IPR041553 Nuclear pore complex protein Nup214, phenylalanine-glycine (FG) domain
      IPR001680 WD40 repeat
      IPR015943 WD40/YVTN repeat-like-containing domain superfamily
    • GlyGen
      Q80U93 59 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (58 sites)
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 10
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-5812, MGI:2446288, MGI:91943
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 3
      Gene Ontology 8
      Phenotypes 8
    • 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:236184 Saito S, et al., Leukemia-Associated Nup214 Fusion Proteins Disturb the XPO1-Mediated Nuclear-Cytoplasmic Transport Pathway and Thereby the NF-kappaB Signaling Pathway. Mol Cell Biol. 2016 Jul 1;36(13):1820-35
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory