View IKBKG gene homepage

General information
Gene symbol IKBKG
Gene name inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference LRG_70
Transcript reference NM_003639.3
Exon/intron information NM_003639.3
Associated with diseases AMCBX-1, HEDID, ID, IMD, IP-2, IPD-2, OLEDAID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Francesca Fusco
Total number of public variants reported 70
Unique public DNA variants reported 70
Individuals with public variants 69
Hidden variants 0
Date created May 03, 2013
Date last updated January 23, 2016
Version IKBKG:160123

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/IKBKG
External URL Orphanet
HGNC 5961
Entrez Gene 8517
PubMed articles IKBKG
OMIM - Gene 300248
OMIM - Diseases AMCBX-1 (mycobacteriosis, atypical, familial, X-linked (AMCBX-1))
HEDID (dysplasia, ectodermal, hypohidrotic, with immune deficiency (HEDID))
IMD (immunodeficiency, isolated (IMD))
IP-2 (incontinentia pigmenti, type II (IP-2))
IPD-2 (invasive pneumococcal disease, recurrent isolated, type 2 (IPD-2))
OLEDAID (dysplasia, ectodermal, anhidrotic, lymphedema and immunodeficiency (OLEDAID))
HGMD IKBKG
GeneCards IKBKG
GeneTests IKBKG


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009914 X transcript variant 3 NM_003639.3 NP_003630.1 70


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