IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma, the group of IKK complex|Zinc fingers C2HC-type

Basic information

Region (hg38): X:154541198-154565046

Previous symbols: [ "IP2", "IP1" ]

Links

ENSG00000269335 ∙ NCBI:8517 ∙ OMIM:300248 ∙ HGNC:5961 ∙ Uniprot:Q9Y6K9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• immunodeficiency without anhidrotic ectodermal dysplasia (Definitive), mode of inheritance: XLR
• incontinentia pigmenti (Definitive), mode of inheritance: XLD
• anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome (Definitive), mode of inheritance: XLR
• ectodermal dysplasia and immunodeficiency 1 (Definitive), mode of inheritance: XLR
• immunodeficiency 33 (Definitive), mode of inheritance: XLR
• incontinentia pigmenti (Strong), mode of inheritance: XL
• incontinentia pigmenti (Strong), mode of inheritance: XL
• incontinentia pigmenti (Supportive), mode of inheritance: XL
• anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome (Supportive), mode of inheritance: XL
• ectodermal dysplasia and immune deficiency (Supportive), mode of inheritance: AD
• immunodeficiency 33 (Supportive), mode of inheritance: XL
• incontinentia pigmenti (Definitive), mode of inheritance: XL
• ectodermal dysplasia and immunodeficiency 1 (Definitive), mode of inheritance: XL
• incontinentia pigmenti (Definitive), mode of inheritance: XL
• IKBKG-related immunodeficiency with or without ectodermal dysplasia (Definitive), mode of inheritance: XL

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Autoinflammatory disease, systemic, X-linked; Immunodeficiency 33; Immunodeficiency, isolated; Incontinentia pigmenti; Ectodermal dysplasia and immune deficiency 1	XL	Allergy/Immunology/Infectious; Ophthalmologic	In Immunodeficiency 33 (Atypical mycobacteriosis), there is evidence that considerations should be taken related to certain vaccines (eg, BCG vacine should be avoided), and recognition of potential sequelae of immunodeficiency may allow prompt diagnosis and treatment of infectious manifestations; In Immunodeficiency 33, in addition to vaccine-related considerations, treatment with IVIG has been reported as beneficial; In Ectodermal dysplasia and immune deficiency 1, prophylactic measures relating to infectious complications, (eg, IVIG and antibiotics) have in some individuals been described as improving clinical status when initiated early, and prompt and aggressive treatment of infections may be beneficial; In Isolated immunodeficiency, antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; In Incontinentia pigmenti, type II, which may be clinically recognizable, fluorescein angiography has been recommended in order to diagnose ischemic retina in individuals with retinal changes, and early treatment with peripheral retinal photocoagulation may reduce the risk of retinal detachment; In IKBKG-related immunodeficiency such as Autoinflammatory disease, systemic, X-linked (which can involve susceptibility to infections), antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; HSCT has been described in Ectodermal dysplasia and immunodeficiency 1	Allergy/Immunology/Infectious; Dental; Dermatologic; Neurologic; Ophthalmologic	117248; 8923006; 10839543; 11047757; 11590134; 11242109; 11224521; 11241484; 12588226; 15577852; 15356572; 16228229; 16333836; 16532398; 16818673; 16950813; 20301645; 20829317; 21993693; 22453515; 28993958; 29534156; 30422821; 31874111; 31965418; 35289316
In Ectodermal dysplasia, anhdyrotic/hypohidrotic, with immune deficiency, some individuals have been described as not responding well to preventive measures/treatment; Lung transplantation has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IKBKG gene.

• not provided (83 variants)
• Anemia, nonspherocytic hemolytic, due to G6PD deficiency (31 variants)
• Ectodermal dysplasia and immunodeficiency 1 (11 variants)
• Incontinentia pigmenti syndrome (8 variants)
• Inborn genetic diseases (8 variants)
• not specified (6 variants)
• G6PD deficiency (5 variants)
• Immunodeficiency 33 (3 variants)
• Autoinflammatory disease, X-linked (2 variants)
• G6PD GAOHE (1 variants)
• G6PD SUNDERLAND (1 variants)
• Autoinflammatory disease, X-linked;Incontinentia pigmenti syndrome;Ectodermal dysplasia and immunodeficiency 1;Immunodeficiency 33 (1 variants)
• Common variable immunodeficiency (1 variants)
• Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome;Incontinentia pigmenti syndrome;Ectodermal dysplasia and immunodeficiency 1;Immunodeficiency 33 (1 variants)
• NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) (1 variants)
• Malaria, susceptibility to (1 variants)
• Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency (1 variants)
• IKBKG-related condition (1 variants)
• Autoinflammatory disease, X-linked;Immunodeficiency 33;Incontinentia pigmenti syndrome;Ectodermal dysplasia and immunodeficiency 1 (1 variants)
• Immunodeficiency 33;Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome (1 variants)
• Immunodeficiency 33;Incontinentia pigmenti syndrome;Ectodermal dysplasia and immunodeficiency 1 (1 variants)
• ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED (1 variants)
• Immunodeficiency 33;Ectodermal dysplasia and immunodeficiency 1 (1 variants)
• G6PD-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IKBKG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	3		5
missense		4	17	5		26
nonsense	7	2				9
start loss						0
frameshift	10	3	1			14
inframe indel		4	2			6
splice donor/acceptor (+/-2bp)	4	2	1			7
splice region			4		1	5
non coding	3	6	16	11	10	46
Total	24	21	39	19	10

Highest pathogenic variant AF is 0.0000520

Variants in IKBKG

This is a list of pathogenic ClinVar variants found in the IKBKG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-154542282-G-A		Inborn genetic diseases	Uncertain significance (Jan 01, 2018)
X-154542367-GCA-G		Inborn genetic diseases	Uncertain significance (Aug 31, 2021)
X-154542390-G-A		Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome;Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome;Immunodeficiency 33 • Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome;Autoinflammatory disease, X-linked;Immunodeficiency 33	Uncertain significance (Mar 30, 2021)
X-154542411-C-T		Ectodermal dysplasia and immunodeficiency 1 • IKBKG-related disorder	Likely benign (Feb 02, 2022)
X-154542419-A-G		not specified • IKBKG-related disorder	Benign/Likely benign (Mar 01, 2023)
X-154542910-A-G		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Benign (Aug 12, 2022)
X-154543081-T-C		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Benign (Aug 12, 2022)
X-154545801-C-T			Benign (Jul 10, 2018)
X-154545836-CA-C			Likely benign (Oct 05, 2019)
X-154545836-C-CA		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Benign (Aug 12, 2022)
X-154546022-T-A		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely benign (Dec 29, 2022)
X-154546023-G-C		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely benign (Aug 30, 2023)
X-154546027-G-A		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Conflicting classifications of pathogenicity (Aug 05, 2021)
X-154546029-T-C		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely benign (Jan 10, 2020)
X-154546029-T-G		G6PD deficiency • Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Conflicting classifications of pathogenicity (Jan 28, 2024)
X-154546044-C-T		not specified	Uncertain significance (Dec 14, 2023)
X-154546045-CATG-C		G6PD SUNDERLAND • Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Conflicting classifications of pathogenicity (Aug 12, 2022)
X-154546049-A-G		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Benign (Aug 12, 2022)
X-154546058-A-G			Pathogenic (Sep 06, 2012)
X-154546059-T-C			Uncertain significance (Dec 01, 2023)
X-154546061-T-C		G6PD GAOHE • Anemia, nonspherocytic hemolytic, due to G6PD deficiency • Inborn genetic diseases • Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Malaria, susceptibility to • Malaria, susceptibility to • Early-onset coronary artery disease • G6PD deficiency	Pathogenic/Likely pathogenic (Mar 08, 2024)
X-154546062-G-A		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely pathogenic (Nov 17, 2020)
X-154546062-G-C		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely pathogenic (Aug 12, 2022)
X-154546068-C-A		G6PD deficiency	Uncertain significance (Apr 27, 2017)
X-154546068-C-T		Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Uncertain significance (Jul 14, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either 'Lys-63'- linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B- mediated protection from cytokine toxicity. Essential for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires 'Lys-27'-linked polyubiquitination. {ECO:0000269|PubMed:14695475, ECO:0000269|PubMed:19854139, ECO:0000269|PubMed:20724660}.
• Disease: DISEASE: Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. {ECO:0000269|PubMed:11047757, ECO:0000269|PubMed:11224521, ECO:0000269|PubMed:11242109, ECO:0000269|PubMed:12045264, ECO:0000269|PubMed:14651848, ECO:0000269|PubMed:15100680, ECO:0000269|PubMed:16547522, ECO:0000269|PubMed:19185524, ECO:0000269|PubMed:21606507}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema (OLEDAID) [MIM:300301]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the association of anhidrotic ectodermal dysplasia with severe immunodeficiency, osteopetrosis and lymphedema. {ECO:0000269|PubMed:11242109}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584]: Patients manifest immunodeficiency not associated with other abnormalities, and resulting in increased susceptibility to infections. Patients suffer from multiple episodes of infectious diseases. {ECO:0000269|PubMed:15100680, ECO:0000269|PubMed:15356572}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Immunodeficiency 33 (IMD33) [MIM:300636]: A X-linked recessive form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non- tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. {ECO:0000269|PubMed:16818673, ECO:0000269|PubMed:19185524, ECO:0000269|PubMed:19854204}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Recurrent isolated invasive pneumococcal disease 2 (IPD2) [MIM:300640]: Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD. {ECO:0000269|PubMed:16950813}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Incontinentia pigmenti (IP) [MIM:308300]: A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. {ECO:0000269|PubMed:10839543, ECO:0000269|PubMed:11590134, ECO:0000269|PubMed:15229184, ECO:0000269|PubMed:17728323, ECO:0000269|PubMed:19033441, ECO:0000269|PubMed:20434027, ECO:0000269|PubMed:24339369}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Primary immunodeficiency - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Adipocytokine signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Small cell lung cancer - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Shigellosis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Apoptosis - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);Nucleotide-binding Oligomerization Domain (NOD) pathway;Regulation of toll-like receptor signaling pathway;MicroRNAs in cardiomyocyte hypertrophy;IL-1 signaling pathway;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;Leptin signaling pathway;IL17 signaling pathway;B Cell Receptor Signaling Pathway;TNF alpha Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Apoptosis;JAK-STAT;EBV LMP1 signaling;Cardiac Hypertrophic Response;NLR Proteins;Rac1-Pak1-p38-MMP-2 pathway;Apoptotic Signaling Pathway;MAPK Signaling Pathway;MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ;Toll-like Receptor Signaling;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;RIG-I-like Receptor Signaling;ATM Signaling Network in Development and Disease;Chemokine signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;miRNA regulation of prostate cancer signaling pathways;Fibrin Complement Receptor 3 Signaling Pathway;PI3K-Akt Signaling Pathway;Ras Signaling;T-Cell antigen Receptor (TCR) Signaling Pathway;Estrogen signaling pathway;Toll-like Receptor Signaling Pathway;TLR NFkB;Toll Like Receptor 7/8 (TLR7/8) Cascade;double stranded rna induced gene expression;Interleukin-17 signaling;Signal Transduction;Signaling by Interleukins;influence of ras and rho proteins on g1 to s transition;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;chaperones modulate interferon signaling pathway;trefoil factors initiate mucosal healing;signal transduction through il1r;tnf/stress related signaling;nf-kb signaling pathway;nfkb activation by nontypeable hemophilus influenzae;keratinocyte differentiation;toll-like receptor pathway;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;TICAM1, RIP1-mediated IKK complex recruitment ;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;B cell receptor signaling;ZBP1(DAI) mediated induction of type I IFNs;Toll-Like Receptors Cascades;Downstream TCR signaling;TCR signaling;NOD1/2 Signaling Pathway;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Post-translational protein modification;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Activation of NF-kappaB in B cells;Metabolism of proteins;Signaling by the B Cell Receptor (BCR);Interleukin-1 signaling;CLEC7A (Dectin-1) signaling;C-type lectin receptors (CLRs);Fc epsilon receptor (FCERI) signaling;IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation;Innate Immune System;Immune System;Adaptive Immune System;inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages;Downstream signaling events of B Cell Receptor (BCR);IL-1 NFkB;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;ceramide signaling pathway;RIP-mediated NFkB activation via ZBP1;IL-7 signaling;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;activated TAK1 mediates p38 MAPK activation;MAP3K8 (TPL2)-dependent MAPK1/3 activation;TNFR1-induced NFkappaB signaling pathway;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;TNF signaling;MyD88 dependent cascade initiated on endosome;Ub-specific processing proteases;BCR signaling pathway;bone remodeling;JAK STAT pathway and regulation;Ovarian tumor domain proteases;Deubiquitination;EPO signaling;Death Receptor Signalling;Regulation of TNFR1 signaling;Leptin;FCERI mediated NF-kB activation;ER-Phagosome pathway;TNFalpha;Cytosolic sensors of pathogen-associated DNA ;IKK complex recruitment mediated by RIP1;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;TNF;VEGF;Canonical NF-kappaB pathway;IRAK1 recruits IKK complex;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;TRAIL signaling pathway;TNF receptor signaling pathway ;Fc-epsilon receptor I signaling in mast cells;Endogenous TLR signaling;TCR signaling in naïve CD8+ T cells;p75(NTR)-mediated signaling;FAS (CD95) signaling pathway;IL1-mediated signaling events;TCR signaling in naïve CD4+ T cells;Interleukin-1 family signaling;CD4 T cell receptor signaling-NFkB cascade;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.628

Haploinsufficiency Scores

• pHI: 0.368
• hipred: N
• hipred_score: 0.233

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Ikbkg
• Phenotype: immune system phenotype; digestive/alimentary phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; pigmentation phenotype; neoplasm; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Zebrafish Information Network

• Gene name: ikbkg
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: lethal (sensu genetics)

Gene ontology

• Biological process: activation of MAPK activity;stimulatory C-type lectin receptor signaling pathway;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;MyD88-independent toll-like receptor signaling pathway;apoptotic process;inflammatory response;immune response;cellular response to DNA damage stimulus;I-kappaB kinase/NF-kappaB signaling;JNK cascade;response to virus;regulation of tumor necrosis factor-mediated signaling pathway;viral process;positive regulation of macroautophagy;protein deubiquitination;TRIF-dependent toll-like receptor signaling pathway;Fc-epsilon receptor signaling pathway;positive regulation of I-kappaB kinase/NF-kappaB signaling;anoikis;innate immune response;positive regulation of transcription by RNA polymerase II;T cell receptor signaling pathway;positive regulation of NF-kappaB transcription factor activity;stress-activated MAPK cascade;establishment of vesicle localization;nucleotide-binding oligomerization domain containing signaling pathway;interleukin-1-mediated signaling pathway;negative regulation of neuron death
• Cellular component: ubiquitin ligase complex;spindle pole;nucleus;nucleoplasm;cytoplasm;cytosol;IkappaB kinase complex;mitotic spindle
• Molecular function: protein binding;protein domain specific binding;ubiquitin protein ligase binding;identical protein binding;protein homodimerization activity;peroxisome proliferator activated receptor binding;metal ion binding;protein heterodimerization activity;K63-linked polyubiquitin modification-dependent protein binding;linear polyubiquitin binding