NFKBIA Chromosome 14

NFKB inhibitor alpha

25 variants 25 Health Risk

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What This Gene Does

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 protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]

Gene Info

Gene Group

Ankyrin repeat domain containing

Locus Type

gene with protein product

Location

14q13.2

Ensembl

ENSG00000100906

Associated Conditions (5)

Inborn genetic diseases

Ectodermal dysplasia and immunodeficiency 2

Inherited Immunodeficiency Diseases

Acute myeloid leukemia

NFKBIA-related disorder

Key Variants

RS1034704889

Conflicting classifications of pathogenicity

Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases

Health Risk

RS121913664

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Inherited Immunodeficiency Diseases, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS142422402

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS147627228

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS151228045

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS1555342918

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS201614038

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS2138832069

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS371120371

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Acute myeloid leukemia, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS371482940

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS751513869

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, NFKBIA-related disorder, Ectodermal dysplasia and immunodeficiency 2

Health Risk

RS752721097

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2

Health Risk

All Variants (25)

RSID	Category	Clinical Significance	Conditions
RS1034704889	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS121913664	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inherited Immunodeficiency Diseases, Ectodermal dysplasia and immunodeficiency 2
RS142422402	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS147627228	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS151228045	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS1555342918	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS201614038	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS2138832069	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS371120371	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Acute myeloid leukemia, Ectodermal dysplasia and immunodeficiency 2
RS371482940	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS751513869	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, NFKBIA-related disorder, Ectodermal dysplasia and immunodeficiency 2
RS752721097	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS753419932	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS753891384	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS756930611	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS770933211	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS957688002	Health Risk	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 2
RS121913665	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS1566591076	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS1566591082	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS1566591086	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS2502188602	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS2502188897	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS28933100	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS886041411	Health Risk	Pathogenic	Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2