• Gene id: 4792

Gene Summary

• Gene Symbol: NFKBIA   Gene   UCSC   Ensembl
• Aliases: EDAID2, IKBA, MAD-3, NFKBI
• Gene name: NFKB inhibitor alpha
• Alternate names: NF-kappa-B inhibitor alpha, I-kappa-B-alpha, IkappaBalpha, ikB-alpha, major histocompatibility complex enhancer-binding protein MAD3, nuclear factor of kappa light chain gene enhancer in B-cells, nuclear factor of kappa light polypeptide gene enhancer in B-cell,
• Gene location: 14q13.2 (35404748: 35401512)     Exons: 11     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 164008

SNPs

rs696

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.35401887C>G
NC_000014.9   g.35401887C>T
NC_000014.8   g.35871093C>G
NC_000014.8   g.35871093C>T
NG_007571.1   g.7852G>C
NG_007571.1   g.7852G>A
NM_020529.3   c.*126G>C
NM_020529.3   c.*126G>A
NM_020529.2   c.*126G>C
NM_020529.2   c.*126G>A|SEQ=[C/G/T]|GE

Protein Summary

• Protein general information: P25963  
  • Name: NF kappa B inhibitor alpha (I kappa B alpha) (IkB alpha) (IkappaBalpha) (Major histocompatibility complex enhancer binding protein MAD3)
  • Length: 317  
  • Mass: 35609
• Sequence:

  MFQAAERPQEWAMEGPRDGLKKERLLDDRHDSGLDSMKDEEYEQMVKELQEIRLEPQEVPRGSEPWKQQLTEDGD
  SFLHLAIIHEEKALTMEVIRQVKGDLAFLNFQNNLQQTPLHLAVITNQPEIAEALLGAGCDPELRDFRGNTPLHL
  ACEQGCLASVGVLTQSCTTPHLHSILKATNYNGHTCLHLASIHGYLGIVELLVSLGADVNAQEPCNGRTALHLAV
  DLQNPDLVSLLLKCGADVNRVTYQGYSPYQLTWGRPSTRIQQQLGQLTLENLQMLPESEDEESYDTESEFTEFTE
  DELPYDDCVFGGQRLTL

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • PDB: 1IKN 1NFI
  • PDBsum: 1IKN 1NFI
  • DIP: 139
  • STRING: ENSP00000216797
• Other Databases: GeneCards:  NFKBIA  Malacards:  NFKBIA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008134	transcription factor binding	TAS	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0042994	cytoplasmic sequestering of transcription factor	TAS	biological process
GO:0051059	NF-kappaB binding	IDA	molecular function
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0070498	interleukin-1-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0035994	response to muscle stretch	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0043330	response to exogenous dsRNA	IEA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0070427	nucleotide-binding oligomerization domain containing 1 signaling pathway	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006606	protein import into nucleus	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0031663	lipopolysaccharide-mediated signaling pathway	IEA	biological process
GO:0032495	response to muramyl dipeptide	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0034142	toll-like receptor 4 signaling pathway	IEA	biological process
GO:0045638	negative regulation of myeloid cell differentiation	IEA	biological process
GO:0070431	nucleotide-binding oligomerization domain containing 2 signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010745	negative regulation of macrophage derived foam cell differentiation	IMP	biological process
GO:0010875	positive regulation of cholesterol efflux	IMP	biological process
GO:0010888	negative regulation of lipid storage	IMP	biological process
GO:0032270	positive regulation of cellular protein metabolic process	IMP	biological process
GO:0007253	cytoplasmic sequestering of NF-kappaB	IMP	biological process
GO:0033256	I-kappaB/NF-kappaB complex	TAS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0070417	cellular response to cold	NAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0050729	positive regulation of inflammatory response	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042994	cytoplasmic sequestering of transcription factor	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0008139	nuclear localization sequence binding	IPI	molecular function
GO:0043392	negative regulation of DNA binding	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0051059	NF-kappaB binding	IPI	molecular function
GO:1901222	regulation of NIK/NF-kappaB signaling	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa05131	Shigellosis
hsa05132	Salmonella infection
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa05130	Pathogenic Escherichia coli infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04621	NOD-like receptor signaling pathway
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa04380	Osteoclast differentiation
hsa05160	Hepatitis C
hsa05135	Yersinia infection
hsa04210	Apoptosis
hsa04926	Relaxin signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa05162	Measles
hsa04668	TNF signaling pathway
hsa04064	NF-kappa B signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04931	Insulin resistance
hsa04659	Th17 cell differentiation
hsa04620	Toll-like receptor signaling pathway
hsa05145	Toxoplasmosis
hsa04662	B cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05142	Chagas disease
hsa04658	Th1 and Th2 cell differentiation
hsa05222	Small cell lung cancer
hsa04657	IL-17 signaling pathway
hsa05220	Chronic myeloid leukemia
hsa05215	Prostate cancer
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa04622	RIG-I-like receptor signaling pathway
hsa04920	Adipocytokine signaling pathway
hsa05140	Leishmaniasis
hsa04623	Cytosolic DNA-sensing pathway
hsa05134	Legionellosis
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Hodgkin lymphoma	KEGG:H00007
Ectodermal dysplasia associated immunodeficiency	KEGG:H00095
Hodgkin lymphoma	KEGG:H00007
Ectodermal dysplasia associated immunodeficiency	KEGG:H00095
Prostate cancer	PMID:28041912
Prostate cancer	PMID:23093296
Prostate cancer	PMID:26068031
lung cancer	PMID:26870106
Melanoma	PMID:17492467
prostate adenocarcinoma	PMID:15073126
Hodgkin's lymphoma	PMID:10340377
Hodgkin's lymphoma	PMID:10556199
multiple myeloma	PMID:16540234
multiple myeloma	PMID:12377412
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray