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Nfkbia Gene Detail
Summary
  • Symbol
    Nfkbia
  • Name
    nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
  • Synonyms
    I-kappaBalpha, IkappaBalpha, I(Kappa)B(alpha), Nfkbi
  • Feature Type
    protein coding gene
  • IDs
    MGI:104741
    NCBI Gene: 18035
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:55536195-55539432 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 24.00 cM, cytoband C1-C3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    131 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104741
 protein coding gene Chr12:55536194-55539432 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019749
 protein coding gene Chr12:54537545-54540788 (-)
A/J MGP_AJ_G0019708
 protein coding gene Chr12:52581832-52585065 (-)
AKR/J MGP_AKRJ_G0019683
 protein coding gene Chr12:54243467-54246703 (-)
BALB/cJ MGP_BALBcJ_G0019688
 protein coding gene Chr12:52942375-52945427 (-)
C3H/HeJ MGP_C3HHeJ_G0019493
 protein coding gene Chr12:54297934-54301170 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020140
 protein coding gene Chr12:56166435-56169679 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017760
 protein coding gene Chr12:51080911-51084117 (-)
CAST/EiJ MGP_CASTEiJ_G0019045
 protein coding gene Chr12:49159179-49162444 (-)
CBA/J MGP_CBAJ_G0019462
 protein coding gene Chr12:58155123-58158358 (-)
DBA/2J MGP_DBA2J_G0019578
 protein coding gene Chr12:52495899-52499155 (-)
FVB/NJ MGP_FVBNJ_G0019566
 protein coding gene Chr12:51792734-51796293 (-)
LP/J MGP_LPJ_G0019650
 protein coding gene Chr12:54533800-54538637 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019604
 protein coding gene Chr12:59712522-59715758 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020174
 protein coding gene Chr12:53683793-53687899 (-)
PWK/PhJ MGP_PWKPhJ_G0018812
 protein coding gene Chr12:46843823-46847062 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018605
 protein coding gene Chr12:48089586-48094280 (-)
WSB/EiJ MGP_WSBEiJ_G0019096
 protein coding gene Chr12:54197029-54201140 (-)



Homology
more
  • Human Ortholog
    NFKBIA, NFKB inhibitor alpha
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NFKBIA, NFKB inhibitor alpha
  • Synonyms
    EDAID2, IKBA, MAD-3, NFKBI
  • Links
    NCBI Gene ID: 4792
    neXtProt AC: NX_P25963
    UniProt: P25963

  • Chr Location
    14q13.2; chr14:35401079-35404749 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Nfkbia mouse models; 15 with human NFKBIA associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    87 phenotypes from 7 alleles in 6 genetic backgrounds
    9 phenotypes from multigenic genotypes
    44 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.
Mice homozygous for disruptions in this gene die at about 1 week of age experiencing abnormalities in the immune system. Mice homozygous for an allele disrupting the N-terminal nuclear export signal exhibit impaired B cell maturation, decreased CD4+ memory T cells, and decreased regulatory T cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    81
  • GO References
    32
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
    948
  • Tissues
    115
  • cDNA Data
    117
  • Literature Summary
    37
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021025 Ensembl Gene Model | MGI Sequence Detail 3238 C57BL/6J ±  kb
    transcript ENSMUST00000021413 Ensembl | MGI Sequence Detail 1578 Not Applicable  
    polypeptide ENSMUSP00000021413 Ensembl | MGI Sequence Detail 314 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 124
      Genomic 3
      cDNA 117
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-12830, MGD-MRK-28032, MGI:2144835
    References
    more
    • Summaries
      All 227
      Developmental Gene Expression 37
      Diseases 2
      Gene Ontology 32
      Phenotypes 44
    • Earliest
      J:2281 Kawaichi M, et al., Genomic organization of mouse J kappa recombination signal binding protein (RBP-J kappa) gene. J Biol Chem. 1992 Feb 25;267(6):4016-22
    • Latest
      J:349013 Thambyrajah R, et al., IkappaBalpha controls dormancy in hematopoietic stem cells via retinoic acid during embryonic development. Nat Commun. 2024 Jun 1;15(1):4673
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory