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Gene: IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) Homo sapiens
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Symbol: IKBKG
Name: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Description: This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMCBX1; EDAID1; FIP-3; FIP3; Fip3p; I-kappa-B kinase subunit gamma; IkB kinase gamma subunit; ikB kinase subunit gamma; ikB kinase-associated protein 1; IKK-gamma; IKKAP1; IKKG; IMD33; incontinentia pigmenti; incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements); incontinentia pigmenti 2 (familial, male-lethal type); inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma; inhibitor of nuclear factor kappa B kinase subunit gamma; inhibitor of nuclear factor kappa-B kinase subunit gamma; IP; IP1; IP2; IPD2; NEMO; NF-kappa-B essential modifier; NF-kappa-B essential modulator; NFkappaB essential modulator; ZC2HC9
Orthologs:
Related Pseudogenes: IKBKGP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,542,240 - 154,565,046 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,769,419 - 153,796,804 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,423,653 - 153,446,455 (+)NCBINCBI36hg18NCBI36
Build 34X153,339,765 - 153,356,964NCBI
CeleraX153,931,508 - 153,953,200 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,346,885 - 142,356,952 (+)NCBIHuRef
CHM1_1X153,682,224 - 153,705,030 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on IKBKG
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1347094
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.