This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations i... See more...

Aliases for NFKBIA Gene

Aliases for NFKBIA Gene

  • NFKB Inhibitor Alpha 2 3 5
  • NF-Kappa-B Inhibitor Alpha 2 3 4
  • IkappaBalpha 2 3 4
  • IKBA 2 3 4
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Alpha 2 3
  • Major Histocompatibility Complex Enhancer-Binding Protein MAD3 3 4
  • I-Kappa-B-Alpha 3 4
  • IkB-Alpha 3 4
  • MAD-3 2 3
  • NFKBI 3 4
  • Nuclear Factor Of Kappa Light Chain Gene Enhancer In B-Cells 3
  • EDAID2 3
  • NFKBIA 5
  • MAD3 4

External Ids for NFKBIA Gene

Previous HGNC Symbols for NFKBIA Gene

  • NFKBI

Previous GeneCards Identifiers for NFKBIA Gene

  • GC14M033248
  • GC14M029658
  • GC14M033860
  • GC14M034940
  • GC14M035870
  • GC14M015984

Summaries for NFKBIA Gene

Entrez Gene Summary for NFKBIA Gene

  • This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]

GeneCards Summary for NFKBIA Gene

NFKBIA (NFKB Inhibitor Alpha) is a Protein Coding gene. Diseases associated with NFKBIA include Ectodermal Dysplasia And Immunodeficiency 2 and Hypohidrotic Ectodermal Dysplasia With Immunodeficiency. Among its related pathways are ATM Pathway and GDNF-Family Ligands and Receptor Interactions. Gene Ontology (GO) annotations related to this gene include identical protein binding and transcription factor binding. An important paralog of this gene is NFKBIB.

UniProtKB/Swiss-Prot Summary for NFKBIA Gene

  • Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.

Gene Wiki entry for NFKBIA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFKBIA Gene

Genomics for NFKBIA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NFKBIA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFKBIA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFKBIA

Top Transcription factor binding sites by QIAGEN in the NFKBIA gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • CUTL1
  • deltaCREB
  • Pax-4a
  • Sox9
  • STAT3

Genomic Locations for NFKBIA Gene

Genomic Locations for NFKBIA Gene
chr14:35,401,513-35,404,749
(GRCh38/hg38)
Size:
3,237 bases
Orientation:
Minus strand
chr14:35,870,716-35,873,960
(GRCh37/hg19)
Size:
3,245 bases
Orientation:
Minus strand

Genomic View for NFKBIA Gene

Genes around NFKBIA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFKBIA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFKBIA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFKBIA Gene

Proteins for NFKBIA Gene

  • Protein details for NFKBIA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25963-IKBA_HUMAN
    Recommended name:
    NF-kappa-B inhibitor alpha
    Protein Accession:
    P25963
    Secondary Accessions:
    • B2R8L6

    Protein attributes for NFKBIA Gene

    Size:
    317 amino acids
    Molecular mass:
    35609 Da
    Quaternary structure:
    • Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, ELP1 and MAP3K14. Interacts with isoform 1 and isoform 2 of RWDD3; the interaction enhances sumoylation. Interacts (when phosphorylated at the 2 serine residues in the destruction motif D-S-G-X(2,3,4)-S) with BTRC. Associates with the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC; the association is mediated via interaction with BTRC. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with RELA; RELA interacts directly with NFKBIA. Interacts with PRMT2. Interacts with PRKACA in platelets; this interaction is disrupted by thrombin and collagen. Interacts with HIF1AN. Interacts with MEFV. Interacts with DDRGK1; positively regulates NFKBIA phosphorylation and degradation.
    • (Microbial infection) Interacts with HBV protein X.

    Three dimensional structures from OCA and Proteopedia for NFKBIA Gene

neXtProt entry for NFKBIA Gene

Post-translational modifications for NFKBIA Gene

  • Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity. Phosphorylation at positions 32 and 36 is prerequisite to recognition by UBE2D3 leading to polyubiquitination and subsequent degradation.
  • Sumoylated; sumoylation requires the presence of the nuclear import signal. Sumoylation blocks ubiquitination and proteasome-mediated degradation of the protein thereby increasing the protein stability.
  • Monoubiquitinated at Lys-21 and/or Lys-22 by UBE2D3. Ubiquitin chain elongation is then performed by CDC34 in cooperation with the SCF(FBXW11) E3 ligase complex, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. The resulting polyubiquitination leads to protein degradation. Also ubiquitinated by SCF(BTRC) following stimulus-dependent phosphorylation at Ser-32 and Ser-36.
  • Deubiquitinated by porcine reproductive and respiratory syndrome virus Nsp2 protein, which thereby interferes with NFKBIA degradation and impairs subsequent NF-kappa-B activation.
  • Ubiquitination at Lys22
  • Modification sites at PhosphoSitePlus

Other Protein References for NFKBIA Gene

Antibody Products

No data available for DME Specific Peptides for NFKBIA Gene

Domains & Families for NFKBIA Gene

Gene Families for NFKBIA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFKBIA Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for NFKBIA Gene

GenScript: Design optimal peptide antigens:
  • Major histocompatibility complex enhancer-binding protein MAD3 (IKBA_HUMAN)
  • IkappaBalpha (Q9UGJ4_HUMAN)
  • IkappaBalpha (Q9UGJ5_HUMAN)
  • IkappaBalpha (Q9UGJ6_HUMAN)
  • IkappaBalpha (Q9UGJ7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P25963

UniProtKB/Swiss-Prot:

IKBA_HUMAN :
  • Belongs to the NF-kappa-B inhibitor family.
Family:
  • Belongs to the NF-kappa-B inhibitor family.
genes like me logo Genes that share domains with NFKBIA: view

Function for NFKBIA Gene

Molecular function for NFKBIA Gene

UniProtKB/Swiss-Prot Function:
Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.
UniProtKB/Swiss-Prot Induction:
Induced in adherent monocytes.
GENATLAS Biochemistry:
nuclear transcription factor of kappa light chain gene enhancer in B cells (NF-kappa B) inhibitor alpha,secontinuously shutting between nucleus and cytoplasm,sequestering NKKB in the cytoplasm,inhibiting NFKB activation after modification by UBL1,inactivated in Hodgkin and Reed-Sternberg cells,ubiquinylated by a new factor termed NFKBIAE3-F1 for signal dependent activation of NF kappa B

Phenotypes From GWAS Catalog for NFKBIA Gene

Gene Ontology (GO) - Molecular Function for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 9452483
GO:0008134 transcription factor binding TAS 10928981
GO:0008139 nuclear localization sequence binding IPI 1493333
GO:0019899 enzyme binding IPI 16648481
GO:0031625 ubiquitin protein ligase binding IPI 9859996
genes like me logo Genes that share ontologies with NFKBIA: view
genes like me logo Genes that share phenotypes with NFKBIA: view

Human Phenotype Ontology for NFKBIA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFKBIA Gene

MGI Knock Outs for NFKBIA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFKBIA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NFKBIA Gene

Localization for NFKBIA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFKBIA Gene

Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFKBIA gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 3
cytoskeleton 3
mitochondrion 3
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 7679069
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 3140380
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with NFKBIA: view

Pathways & Interactions for NFKBIA Gene

PathCards logo

SuperPathways for NFKBIA Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 TNFR1 Pathway
.87
.87
.56
.55
.52
.46
.42
.42
.40
3 4-1BB Pathway
.54
.54
.48
.46
.42
.42
.37
.36
.30
4 Cytosolic sensors of pathogen-associated DNA
5 Toll-like Receptor Signaling Pathway
genes like me logo Genes that share pathways with NFKBIA: view

Pathways by source for NFKBIA Gene

50 GeneGo (Thomson Reuters) pathways for NFKBIA Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival Lymphotoxin-beta receptor signaling
  • Apoptosis and survival TNFR1 signaling pathway
2 Tocris pathways for NFKBIA Gene
65 Qiagen pathways for NFKBIA Gene
  • 14-3-3 Induced Apoptosis
  • 4-1BB Pathway
  • Activation of NF-KappaB by PKR
  • Activation of PKA through GPCR
  • Antioxidant Action of Vitamin-C
1 Cell Signaling Technology pathway for NFKBIA Gene
2 GeneTex pathways for NFKBIA Gene

SIGNOR curated interactions for NFKBIA Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IEA --
GO:0006915 apoptotic process TAS 10747850
GO:0007249 I-kappaB kinase/NF-kappaB signaling IDA 25038658
GO:0007253 cytoplasmic sequestering of NF-kappaB IMP 16938301
GO:0010468 regulation of gene expression IEA --
genes like me logo Genes that share ontologies with NFKBIA: view

Drugs & Compounds for NFKBIA Gene

(89) Drugs for NFKBIA Gene - From: DrugBank, PharmGKB, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker, Target, inhibitor 1512
Gefitinib Approved, Investigational Pharma EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 409
Astaxanthin Investigational Pharma Target 0
Bardoxolone methyl Investigational Pharma Target IKK inhibitor, potent antioxidant inflammation modulator 0
CID-2858522 Pharma NF-κB pathway inhibitor 0

(52) Additional Compounds for NFKBIA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for NFKBIA Gene

Compound Action Cas Number
CID-2858522 NF-κB pathway inhibitor 758679-97-9
genes like me logo Genes that share compounds with NFKBIA: view

Drug Products

Transcripts for NFKBIA Gene

mRNA/cDNA for NFKBIA Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFKBIA

Alternative Splicing Database (ASD) splice patterns (SP) for NFKBIA Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - - - - - -
SP6: - -
SP7: -
SP8: -
SP9:

Relevant External Links for NFKBIA Gene

GeneLoc Exon Structure for
NFKBIA

Expression for NFKBIA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFKBIA Gene

Protein differential expression in normal tissues from HIPED for NFKBIA Gene

This gene is overexpressed in Heart (12.3) and Lymph node (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NFKBIA Gene



Protein tissue co-expression partners for NFKBIA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NFKBIA

SOURCE GeneReport for Unigene cluster for NFKBIA Gene:

Hs.81328

Evidence on tissue expression from TISSUES for NFKBIA Gene

  • Nervous system(4.8)
  • Blood(4.8)
  • Kidney(4.7)
  • Lymph node(4.7)
  • Lung(4.4)
  • Pancreas(3.9)
  • Spleen(3.9)
  • Liver(3.8)
  • Bone marrow(3.8)
  • Intestine(3.8)
  • Heart(3.8)
  • Muscle(3.7)
  • Skin(3.5)
  • Adrenal gland(3.3)
  • Stomach(3.2)
  • Eye(3.1)
  • Thyroid gland(2.9)
  • Gall bladder(2.6)
  • Bone(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NFKBIA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
Abdomen:
  • intestine
  • large intestine
  • small intestine
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • bone marrow
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with NFKBIA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NFKBIA Gene

Orthologs for NFKBIA Gene

This gene was present in the common ancestor of animals.

Orthologs for NFKBIA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NFKBIA 30 31
  • 99.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BIKBA 31
  • 95 (a)
OneToOne
NFKBIA 30
  • 92.36 (n)
Dog
(Canis familiaris)
Mammalia NFKBIA 30 31
  • 92.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nfkbia 30
  • 90.55 (n)
Mouse
(Mus musculus)
Mammalia Nfkbia 30 17 31
  • 89.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NFKBIA 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NFKBIA 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NFKBIA 30 31
  • 74.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NFKBIA 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nfkbia 30
  • 64.33 (n)
Str.10661 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24269 30
Zebrafish
(Danio rerio)
Actinopterygii nfkbiaa 30 31
  • 60.99 (n)
OneToMany
nfkbiab 31
  • 49 (a)
OneToMany
wufb81f08 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1788 30
Fruit Fly
(Drosophila melanogaster)
Insecta cact 30 31 32
  • 50.74 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta CACT 30
  • 44.74 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 19 (a)
OneToMany
Species where no ortholog for NFKBIA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NFKBIA Gene

ENSEMBL:
Gene Tree for NFKBIA (if available)
TreeFam:
Gene Tree for NFKBIA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFKBIA: view image

Paralogs for NFKBIA Gene

Paralogs for NFKBIA Gene

(4) SIMAP similar genes for NFKBIA Gene using alignment to 5 proteins:

  • IKBA_HUMAN
  • G3V286_HUMAN
  • G3V2A2_HUMAN
  • G3V3I4_HUMAN
  • G3V3K1_HUMAN
genes like me logo Genes that share paralogs with NFKBIA: view

Variants for NFKBIA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFKBIA Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
636651 Uncertain Significance: not provided 35,403,813(-) G/A
636812 Uncertain Significance: not provided 35,402,389(-) C/CTCACCTCGTCCTC
639792 Benign: Ectodermal dysplasia and immunodeficiency 2 35,403,687(-) C/T
648247 Uncertain Significance: Ectodermal dysplasia and immunodeficiency 2 35,403,329(-) T/C MISSENSE_VARIANT
649160 Uncertain Significance: Ectodermal dysplasia and immunodeficiency 2 35,402,510(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NFKBIA Gene

Structural Variations from Database of Genomic Variants (DGV) for NFKBIA Gene

Variant ID Type Subtype PubMed ID
nsv564319 CNV loss 21841781
nsv564320 CNV loss 21841781

Variation tolerance for NFKBIA Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFKBIA Gene

Human Gene Mutation Database (HGMD)
NFKBIA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFKBIA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFKBIA Gene

Disorders for NFKBIA Gene

MalaCards: The human disease database

(51) MalaCards diseases for NFKBIA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia and immunodeficiency 2
  • edaid2
hypohidrotic ectodermal dysplasia with immunodeficiency
  • ectodermal dysplasia, hypohidrotic, with immune deficiency
nasopharyngeal carcinoma
  • npc
ectodermal dysplasia
  • congenital ectodermal defect
gliosarcoma
  • glioblastoma with sarcomatous component
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IKBA_HUMAN
  • Ectodermal dysplasia and immunodeficiency 2 (EDAID2) [MIM:612132]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant. {ECO:0000269 PubMed:14523047, ECO:0000269 PubMed:18412279}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NFKBIA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NFKBIA: view

No data available for Genatlas for NFKBIA Gene

Publications for NFKBIA Gene

  1. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PMID: 18434448) Dieguez-Gonzalez R … Gonzalez A (Annals of the rheumatic diseases 2009) 3 23 41
  2. A hypermorphic IkappaBalpha mutation is assoc