The IKBKB gene homepage

General information
Gene symbol IKBKB
Gene name inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
Chromosome 8
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_001190720.2, NM_001242778.1, NM_001556.2, NR_033818.1, NR_033819.1, NR_040009.1, XM_005273490.1, XM_005273491.2, XM_005273492.1, XM_005273493.2, XM_005273494.1, XM_005273495.1, XM_005273496.1, XM_005273498.2, XM_005273499.2
Associated with diseases IMD-15
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 82
Unique public DNA variants reported 14
Individuals with public variants 35
Hidden variants 54
Date created November 30, -0001
Date last updated September 28, 2016
Version IKBKB:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:5960
Entrez Gene 3551
PubMed articles IKBKB
OMIM - Gene 603258
OMIM - Diseases IMD-15 (immunodeficiency, type 15 (IMD-15))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012153 8 transcript variant 1 NM_001556.2 NP_001547.1 82
00012154 8 transcript variant 7 NM_001242778.1 NP_001229707.1 80
00012155 8 transcript variant 2 NM_001190720.2 NP_001177649.1 75
00031724 8 Manually created transcript NR_033818.1 - -
00047205 8 transcript variant X3 XM_005273492.1 XP_005273549.1 -
00047206 8 transcript variant X5 XM_005273494.1 XP_005273551.1 -
00047207 8 transcript variant 6 NR_033819.1 - -
00047208 8 transcript variant X9 XM_005273498.2 XP_005273555.1 -
00047209 8 transcript variant X7 XM_005273496.1 XP_005273553.1 -
00047210 8 transcript variant 8 NR_040009.1 - -
00047211 8 transcript variant X4 XM_005273493.2 XP_005273550.1 -
00047212 8 transcript variant X10 XM_005273499.2 XP_005273556.1 -
00047213 8 transcript variant X6 XM_005273495.1 XP_005273552.1 -
00047214 8 transcript variant X1 XM_005273490.1 XP_005273547.1 -
00047215 8 transcript variant X2 XM_005273491.2 XP_005273548.1 -