NFKBIA (NFKB inhibitor alpha)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
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
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(10)
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(101)
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(8)
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(73)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 16938301
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 9452483, 9520446, 9865693, 10498867, 10733566, 12482991, 12486103, 12656673, 12730857, 14685242, 14743216, 15601829, 15799966, 16126728, 16195219, 16286467, 16319058, 16365431, 16683270, 16951195, 17003112, 17301240, 17318178, 17612295, 18045535, 18539148, 18632959, 18922877, 190083
GO:0005634 Component Nucleus IDA 7679069, 16648481
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
164008 7797 ENSG00000100906
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
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
TNQPEIAEALLGAGCDPELRDFRGNTPLHLACEQGCLASVGVLTQSCTTPHLHSILKATN
YNGHTCLHLASIHGYLGIVELLVSLGADVNAQEPCNGRTALHLAVDLQNPDLVSLLLKCG
ADVNRVTYQGYSPYQLTWGRPSTRIQQQLGQLTLENLQMLPESEDEESYDTESEFTEFTE
DELPYDDCVFGGQRLTL
Sequence length 317
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ectodermal Dysplasia Ectodermal dysplasia and immunodeficiency 2 rs28933100, rs121913665, rs886041411, rs1566591076, rs1566591086, rs1566591082 N/A
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Asthma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Immunodeficiency Inherited Immunodeficiency Diseases N/A N/A ClinVar
Show/Hide Text Mining Associations (180)
Associations from Text Mining Disease associations identified through Pubtator
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