IKBKB Chromosome 8
Inhibitor of nuclear factor kappa B kinase subunit beta
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What This Gene Does
The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"I kappa B kinase family|IKK complex"
Locus Type
gene with protein product
Location
8p11.21
Ensembl
ENSG00000104365
Associated Conditions (6)
Severe combined immunodeficiency due to IKK2 deficiency
IKBKB-related disorder
Inborn genetic diseases
Clear cell carcinoma of kidney
Immunodeficiency 15a
Severe combined immunodeficiency disease
Key Variants
RS1064795873
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS115698972
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, IKBKB-related disorder, Inborn genetic diseases
Health Risk
RS1402092076
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS141839189
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS148097786
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS186203343
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS200048037
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS200992566
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS201849681
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS202226005
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Clear cell carcinoma of kidney, Immunodeficiency 15a
Health Risk
RS2487680645
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Immunodeficiency 15a, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
RS56329631
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795873 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS115698972 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, IKBKB-related disorder, Inborn genetic diseases |
| RS1402092076 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS141839189 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency |
| RS148097786 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency |
| RS186203343 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS200048037 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency |
| RS200992566 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS201849681 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency |
| RS202226005 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Clear cell carcinoma of kidney, Immunodeficiency 15a |
| RS2487680645 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Immunodeficiency 15a, Severe combined immunodeficiency due to IKK2 deficiency |
| RS56329631 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS753922163 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS758806135 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases, Severe combined immunodeficiency due to IKK2 deficiency |
| RS1563361838 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2130736002 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2487009371 | Health Risk | Likely pathogenic | IKBKB-related disorder, IKBKB-related disorder |
| RS2487503753 | Health Risk | Likely pathogenic | — |
| RS2487645340 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2487679210 | Health Risk | Likely pathogenic | IKBKB-related disorder, IKBKB-related disorder |
| RS2487691864 | Health Risk | Likely pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS1190950389 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS1205793780 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS1563340753 | Health Risk | Pathogenic | Immunodeficiency 15a, Severe combined immunodeficiency due to IKK2 deficiency, Immunodeficiency 15a |
| RS1818665697 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS1819856886 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS200296680 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Immunodeficiency 15a, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2129978037 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2130681529 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2130681744 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2487692827 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2487713743 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2487731363 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2487734648 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2487739397 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS2487810076 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS745492616 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency |
| RS886041036 | Health Risk | Pathogenic | Severe combined immunodeficiency due to IKK2 deficiency, IKBKB-related disorder, Severe combined immunodeficiency due to IKK2 deficiency |