Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4792
Gene name Gene Name - the full gene name approved by the HGNC.
NFKB inhibitor alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFKBIA
Synonyms (NCBI Gene) Gene synonyms aliases
EDAID2, IKBA, MAD-3, NFKBI
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EDAID2
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.2
Summary Summary of gene provided in NCBI Entrez 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 protei
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28933100 C>A,T Pathogenic Coding sequence variant, missense variant
rs121913664 C>T Pathogenic Stop gained, coding sequence variant
rs121913665 C>A Pathogenic Stop gained, coding sequence variant
rs142195196 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs886041411 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003202 kshv-miR-K12-1-5p Luciferase reporter assay, Western blot 20081837
MIRT003202 kshv-miR-K12-1-5p Luciferase reporter assay, Western blot 20081837
MIRT006695 hsa-miR-30e-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 22156201
MIRT006695 hsa-miR-30e-3p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 22156201
MIRT017719 hsa-miR-335-5p Microarray 18185580
Transcription factors
Transcription factor Regulation Reference
NFKB1 Activation 12885753
NFKB1 Repression 11744993
NFKB1 Unknown 10454561;15499023;17876798
PPARA Activation 14976045
PPARA Unknown 11981037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 9452483, 9520446, 9865693, 10498867, 10733566, 12482991, 12486103, 12730857, 14685242, 14743216, 15601829, 15799966, 16126728, 16195219, 16286467, 16319058, 16365431, 16683270, 16951195, 17003112, 17301240, 17318178, 17612295, 18045535, 18539148, 18632959, 18922877, 19008357, 191969
GO:0005634 Component Nucleus IDA 7679069, 16648481
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IDA 3140380
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164008 7797 ENSG00000100906
Protein
UniProt ID P25963
Protein name NF-kappa-B inhibitor alpha (I-kappa-B-alpha) (IkB-alpha) (IkappaBalpha) (Major histocompatibility complex enhancer-binding protein MAD3)
Protein function Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:36651806, PubMed:7479976). On cellular stimulation b
PDB 1IKN , 1NFI , 6TTU , 6Y1J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 111 142 Ankyrin repeat Repeat
PF00023 Ank 143 175 Ankyrin repeat Repeat
PF00023 Ank 182 213 Ankyrin repeat Repeat
PF00023 Ank 216 248 Ankyrin repeat Repeat
Sequence
MFQAAERPQEWAMEGPRDGLKKERLLDDRHDSGLDSMKDEEYEQMVKELQEIRLEPQEVP
RGSEPWKQQLTEDGDSFLHLAIIHEEKALTMEVIRQVKGDLAFLNFQNNLQQTPLHLAVI
TNQPEIAEALLGAGCDPELRDF
RGNTPLHLACEQGCLASVGVLTQSCTTPHLHSILKATN
YNGHTCLHLASIHGYLGIVELLVSLGADVNAQEPCNGRTALHLAVDLQNPDLVSLLLKCG
ADVNRVTY
QGYSPYQLTWGRPSTRIQQQLGQLTLENLQMLPESEDEESYDTESEFTEFTE
DELPYDDCVFGGQRLTL
Sequence length 317
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  cAMP signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Adipocytokine signaling pathway
Relaxin signaling pathway
Insulin resistance
Alcoholic liver disease
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Legionellosis
Yersinia infection
Leishmaniasis
Chagas disease
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Chemical carcinogenesis - reactive oxygen species
Prostate cancer
Chronic myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
  Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Downstream TCR signaling
NF-kB is activated and signals survival
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
SUMOylation of immune response proteins
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
Ub-specific processing proteases
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
16298037
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
16298037
Ectodermal dysplasia Ectodermal dysplasia, hypohidrotic, with immune deficiency, Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326
View all (42 more)
18412279, 14523047, 23239958
Hypohidrotic ectodermal dysplasia Anhydrotic Ectodermal Dysplasias rs104894415, rs28937872, rs104894416
Unknown
Disease term Disease name Evidence References Source
Hodgkin lymphoma Adult Hodgkin Lymphoma 19223558 ClinVar
Nasopharyngeal carcinoma Malignant neoplasm of nasopharynx, Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 27647909 ClinVar, CBGDA
Ectodermal Dysplasia ectodermal dysplasia and immunodeficiency 2, ectodermal dysplasia and immune deficiency GenCC
Eczema Eczema GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 17942396
Acute Kidney Injury Associate 26477820, 30429237
Acute Kidney Injury Inhibit 30429237
Adenocarcinoma Inhibit 23439505
Adenocarcinoma of Lung Associate 23439505
Alzheimer Disease Stimulate 31984950
Alzheimer Disease Associate 37759083
Amyotrophic lateral sclerosis 1 Associate 12437573
Aneurysm Ruptured Associate 33990177
Angina Stable Associate 26075620