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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
    IkappaBalpha, I-kappaBalpha, I(Kappa)B(alpha), Nfkbi
  • Feature Type
    protein coding gene
  • IDs
    MGI:104741
    NCBI Gene: 18035
  • Gene Overview
    MyGene.info: NFKBIA
Location & Maps
more
  • Sequence Map
    Chr12:55489411-55492647 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3237 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 24.00 cM, cytoband C1-C3
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    NFKBIA, NFKB inhibitor alpha
  • Vertebrate Orthologs
    11
  • Human Ortholog
    NFKBIA, NFKB inhibitor alpha
    Orthology source: HomoloGene
  • Synonyms
    IKBA, MAD-3, NFKBI
  • Links
    NCBI Gene ID: 4792
    neXtProt AC: NX_P25963

  • Chr Location
    14q13; chr14:35401510-35404754 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Nfkbia mouse models; 1 with human NFKBIA associations

Human Disease Mouse Models
       Dermatitis, Atopic   OMIM: 603165 View 1 model
Sjogren Syndrome   OMIM: 270150 View 1 model
       Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant   OMIM: 612132
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    88 phenotypes from 8 alleles in 7 genetic backgrounds
    87 phenotypes from multigenic genotypes
    65 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.
  • All Mutations and Alleles
    18
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    12
  • Transgenic
    4
  • Genomic Mutations
    1 involving Nfkbia
  • Incidental Mutations
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
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021025 Ensembl Gene Model | MGI Sequence Detail 3237 C57BL/6J ±  kb
transcript ENSMUST00000021413 Ensembl | MGI Sequence Detail 1577 Not Applicable  
polypeptide ENSMUSP00000021413 Ensembl | MGI Sequence Detail 314 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    22 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000003293 NF-kappa-B inhibitor alpha
  • InterPro Domains
    IPR002110 Ankyrin repeat
    IPR020683 Ankyrin repeat-containing domain
Molecular
Reagents
less
  • All nucleic 119
    Genomic 3
    cDNA 115
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-12830, MGD-MRK-28032, MGI:2144835
References
more
  • Summaries
    All 144
    Developmental Gene Expression 20
    Diseases 3
    Gene Ontology 23
    Phenotypes 65
  • 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:222974 Lee DJ, et al., Regulation and Function of the Caspase-1 in an Inflammatory Microenvironment. J Invest Dermatol. 2015 Aug;135(8):2012-20

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
06/22/2016
MGI 6.04
The Jackson Laboratory