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Nup98 Gene Detail
Summary
  • Symbol
    Nup98
  • Name
    nucleoporin 98
  • Synonyms
    Nup96
  • Feature Type
    protein coding gene
  • IDs
    MGI:109404
    NCBI Gene: 269966
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:101768607-101859359 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 54.71 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1848 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109404
 protein coding gene Chr7:101768605-101859383 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032604
 protein coding gene Chr7:105150188-105245591 (-)
A/J MGP_AJ_G0032580
 protein coding gene Chr7:102473297-102564642 (-)
AKR/J MGP_AKRJ_G0032516
 protein coding gene Chr7:104922148-105012641 (-)
BALB/cJ MGP_BALBcJ_G0032591
 protein coding gene Chr7:102164532-102267296 (-)
C3H/HeJ MGP_C3HHeJ_G0032305
 protein coding gene Chr7:105316210-105412246 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033088
 protein coding gene Chr7:109115607-109207422 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030082
 protein coding gene Chr7:104825352-104917121 (-)
CAST/EiJ MGP_CASTEiJ_G0031631
 protein coding gene Chr7:96860641-96957879 (-)
CBA/J MGP_CBAJ_G0032271
 protein coding gene Chr7:112897190-113021823 (-)
DBA/2J MGP_DBA2J_G0032423
 protein coding gene Chr7:100797088-100887834 (-)
FVB/NJ MGP_FVBNJ_G0032379
 protein coding gene Chr7:100582587-100672711 (-)
LP/J MGP_LPJ_G0032512
 protein coding gene Chr7:106465075-106556356 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032413
 protein coding gene Chr7:114208317-114305334 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033110
 protein coding gene Chr7:104199237-104290641 (-)
PWK/PhJ MGP_PWKPhJ_G0031349
 protein coding gene Chr7:93916221-94007760 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031193
 protein coding gene Chr7:91506577-91585331 (-)
WSB/EiJ MGP_WSBEiJ_G0031748
 protein coding gene Chr7:104880862-104977058 (-)



Homology
more
  • Human Ortholog
    NUP98, nucleoporin 98 and 96 precursor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NUP98, nucleoporin 98 and 96 precursor
  • Synonyms
    ADIR2, NUP196, NUP96, Nup98-96
  • Links
    NCBI Gene ID: 4928
    neXtProt AC: NX_P52948
    UniProt: P52948

  • Chr Location
    11p15.4; chr11:3671083-3797792 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NUP98 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    25 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.
Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    9
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
    748
  • Tissues
    30
  • cDNA Data
    20
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 269966 NCBI Gene Model | MGI Sequence Detail 90753 C57BL/6J ±  kb
    transcript NM_001287164 RefSeq | MGI Sequence Detail 6662 ZRU/MplStud  
    polypeptide Q6PFD9 UniProt | EBI | MGI Sequence Detail 1816 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      13 Sequences
    • Protein Ontology
      PR:000011526 nuclear pore complex protein Nup98-Nup96
      (term hierarchy)
    • PDB
      3TKN, 7BYF
    • EC
      3.4.21.-
    • InterPro Domains
      IPR021967 Nuclear pore complex protein NUP96, C-terminal domain
      IPR007230 Nuclear pore complex protein Nup98-Nup96-like, autopeptidase S59 domain
      IPR036903 Nuclear pore complex protein Nup98-Nup96-like, autopeptidase S59 domain superfamily
      IPR025574 Nucleoporin FG repeat
      IPR037665 Nucleoporin peptidase S59-like
    • GlyGen
      Q6PFD9 8 sites, 1 O-linked glycan (8 sites)
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 22
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-38449, MGI:2142051
    References
    more
    • Summaries
      All 79
      Developmental Gene Expression 5
      Gene Ontology 9
      Phenotypes 25
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory