ENSG00000104365


Homo sapiens

Features
Gene ID: ENSG00000104365
  
Biological name :IKBKB
  
Synonyms : IKBKB / inhibitor of nuclear factor kappa B kinase subunit beta / O14920
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p11.21
Gene start: 42271302
Gene end: 42332653
  
Corresponding Affymetrix probe sets: 209341_s_at (Human Genome U133 Plus 2.0 Array)   209342_s_at (Human Genome U133 Plus 2.0 Array)   211027_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429699
Ensembl peptide - ENSP00000486961
Ensembl peptide - ENSP00000430868
Ensembl peptide - ENSP00000430684
Ensembl peptide - ENSP00000430557
Ensembl peptide - ENSP00000430483
Ensembl peptide - ENSP00000430114
Ensembl peptide - ENSP00000429924
Ensembl peptide - ENSP00000339151
Ensembl peptide - ENSP00000404920
Ensembl peptide - ENSP00000427978
Ensembl peptide - ENSP00000428186
Ensembl peptide - ENSP00000428799
Ensembl peptide - ENSP00000428892
Ensembl peptide - ENSP00000428922
Ensembl peptide - ENSP00000429239
Ensembl peptide - ENSP00000429319
Ensembl peptide - ENSP00000429357
NCBI entrez gene - 3551     See in Manteia.
OMIM - 603258
RefSeq - XM_005273498
RefSeq - XM_011544517
RefSeq - XM_011544518
RefSeq - XM_011544519
RefSeq - XM_011544520
RefSeq - XM_011544521
RefSeq - XM_011544522
RefSeq - XM_017013396
RefSeq - NM_001190720
RefSeq - NM_001242778
RefSeq - NM_001556
RefSeq - XM_005273495
RefSeq - XM_005273493
RefSeq - XM_005273494
RefSeq - XM_005273496
RefSeq - XM_005273490
RefSeq - XM_005273491
RefSeq - XM_005273492
RefSeq Peptide - NP_001229707
RefSeq Peptide - NP_001547
RefSeq Peptide - NP_001177649
swissprot - O14920
swissprot - E5RIW0
swissprot - E5RGW5
swissprot - E5RGA0
swissprot - E5RFT3
swissprot - E5RFG5
swissprot - G3V105
swissprot - J3KNS5
swissprot - E5RJH2
Ensembl - ENSG00000104365
  
Related genetic diseases (OMIM): 615592 - Immunodeficiency 15, 615592
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ikbkbENSDARG00000079123Danio rerio
 IKBKBENSGALG00000031832Gallus gallus
 IkbkbENSMUSG00000031537Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHUK / O15111 / conserved helix-loop-helix ubiquitous kinaseENSG0000021334150
ULK1 / O75385 / unc-51 like autophagy activating kinase 1ENSG0000017716920
ULK2 / Q8IYT8 / unc-51 like autophagy activating kinase 2ENSG0000008329020
IKBKE / Q14164 / inhibitor of nuclear factor kappa B kinase subunit epsilonENSG0000026352819
TBK1 / Q9UHD2 / TANK binding kinase 1ENSG0000018373519
ULK3 / Q6PHR2 / unc-51 like kinase 3ENSG0000014047412


Protein motifs (from Interpro)
Interpro ID Name
 IPR000626  Ubiquitin domain
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR022007  I-kappa-kinase-beta NEMO binding domain
 IPR029071  Ubiquitin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0002756 MyD88-independent toll-like receptor signaling pathway TAS
 biological_processGO:0006468 protein phosphorylation NAS
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0007252 I-kappaB phosphorylation IEA
 biological_processGO:0009615 response to virus TAS
 biological_processGO:0009653 anatomical structure morphogenesis IBA
 biological_processGO:0010803 regulation of tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IDA
 biological_processGO:0030866 cortical actin cytoskeleton organization IMP
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway IMP
 biological_processGO:0035509 negative regulation of myosin-light-chain-phosphatase activity IMP
 biological_processGO:0035666 TRIF-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0042325 regulation of phosphorylation IDA
 biological_processGO:0043066 negative regulation of apoptotic process TAS
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling TAS
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated NAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0051403 stress-activated MAPK cascade TAS
 biological_processGO:0070423 nucleotide-binding oligomerization domain containing signaling pathway TAS
 biological_processGO:0070498 interleukin-1-mediated signaling pathway IMP
 biological_processGO:0071356 cellular response to tumor necrosis factor IDA
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:1903140 regulation of establishment of endothelial barrier IMP
 biological_processGO:1903347 negative regulation of bicellular tight junction assembly IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0008385 IkappaB kinase complex TAS
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0035631 CD40 receptor complex ISS
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008384 IkappaB kinase activity TAS
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0097110 scaffold protein binding IDA


Pathways (from Reactome)
Pathway description
Activation of NF-kappaB in B cells
ER-Phagosome pathway
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
RIP-mediated NFkB activation via ZBP1
Downstream TCR signaling
p75NTR recruits signalling complexes
NF-kB is activated and signals survival
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
IKBKB deficiency causes SCID
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002028 Chronic diarrhea 
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 HP:0002721 Immunodeficiency 
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 HP:0003593 Early onset 
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 HP:0004432 Agammaglobulinemia 
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 HP:0011947 Respiratory tract infection "An infection of the upper or lower respiratory tract." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127666 Q8IUC6 / TICAM1 / toll like receptor adaptor molecule 1  / complex / reaction
 ENSG00000064012 CASP8 / Q14790 / caspase 8  / reaction / complex
 ENSG00000137275 RIPK1 / Q13546 / receptor interacting serine/threonine kinase 1  / reaction / complex
 ENSG00000115267 IFIH1 / Q9BYX4 / interferon induced with helicase C domain 1  / complex / reaction
 ENSG00000003400 CASP10 / Q92851 / caspase 10  / complex / reaction
 ENSG00000164342 TLR3 / O15455 / toll like receptor 3  / complex / reaction
 ENSG00000168040 FADD / Q13158 / Fas associated via death domain  / reaction / complex
 ENSG00000170458 CD14 / P08571 / CD14 molecule  / reaction / complex
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / reaction / complex
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000173039 RELA / Q04206 / RELA proto-oncogene, NF-kB subunit  / reaction
 ENSG00000184216 IRAK1 / P51617 / interleukin 1 receptor associated kinase 1  / reaction / complex
 ENSG00000162924 REL / Q04864 / REL proto-oncogene, NF-kB subunit  / reaction
 ENSG00000104825 NFKBIB / Q15653 / NFKB inhibitor beta  / reaction
 ENSG00000092531 O00161 / SNAP23 / synaptosome associated protein 23  / reaction
 ENSG00000142867 BCL10 / O95999 / B cell CLL/lymphoma 10  / complex
 ENSG00000213341 CHUK / O15111 / conserved helix-loop-helix ubiquitous kinase  / reaction / complex
 ENSG00000109320 NFKB1 / P19838 / nuclear factor kappa B subunit 1  / reaction
 ENSG00000134259 NGF / P01138 / nerve growth factor  / complex / reaction
 ENSG00000077150 NFKB2 / Q00653 / nuclear factor kappa B subunit 2  / reaction
 ENSG00000161011 Q13501 / SQSTM1 / sequestosome 1  / reaction / complex
 ENSG00000064300 NGFR / P08138 / nerve growth factor receptor  / reaction / complex
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / reaction / complex
 ENSG00000198286 CARD11 / Q9BXL7 / caspase recruitment domain family member 11  / complex
 ENSG00000083799 CYLD / Q9NQC7 / CYLD lysine 63 deubiquitinase  / reaction
 ENSG00000146232 NFKBIE / O00221 / NFKB inhibitor epsilon  / reaction
 ENSG00000172175 MALT1 / Q9UDY8 / MALT1 paracaspase  / complex
 ENSG00000100906 NFKBIA / P25963 / NFKB inhibitor alpha  / reaction
 ENSG00000107968 MAP3K8 / P41279 / mitogen-activated protein kinase kinase kinase 8  / reaction
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / complex
 ENSG00000168884 TNIP2 / Q8NFZ5 / TNFAIP3 interacting protein 2  / reaction
 ENSG00000181481 Q8IUD6 / RNF135 / ring finger protein 135  / complex / reaction
 ENSG00000121060 Q14258 / TRIM25 / tripartite motif containing 25  / reaction / complex
 ENSG00000092098 RNF31 / Q96EP0 / ring finger protein 31  / complex / reaction
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / complex / reaction
 ENSG00000125826 RBCK1 / Q9BYM8 / RANBP2-type and C3HC4-type zinc finger containing 1  / reaction / complex
 ENSG00000179526 Q9H0F6 / SHARPIN / SHANK associated RH domain interactor  / reaction / complex
 ENSG00000135341 MAP3K7 / O43318 / mitogen-activated protein kinase kinase kinase 7  / reaction / complex
 ENSG00000107201 DDX58 / O95786 / DExD/H-box helicase 58  / complex / reaction
 ENSG00000204628 RACK1 / P63244 / receptor for activated C kinase 1  / reaction / complex
 ENSG00000095015 MAP3K1 / Q13233 / mitogen-activated protein kinase kinase kinase 1  / reaction
 ENSG00000088888 MAVS / Q7Z434 / mitochondrial antiviral signaling protein  / complex / reaction
 ENSG00000243414 Q86XR7 / TICAM2 / toll like receptor adaptor molecule 2  / reaction / complex






 

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