NFKBIB

Summary

NFKBIB (NFKB inhibitor beta, HGNC:7798) is a protein-coding gene on chromosome 19q13.2, encoding NF-kappa-B inhibitor beta (Q15653). Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm.

The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 4793 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 69 total
• Transcription factor: yes — 21 downstream targets (CollecTRI)
• MANE Select transcript: NM_002503

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7798
Approved symbol	NFKBIB
Name	NFKB inhibitor beta
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	IKBB, TRIP9
Ensembl gene	ENSG00000104825
Ensembl biotype	protein_coding
OMIM	604495
Entrez	4793

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000313582, ENST00000392079, ENST00000509705, ENST00000572515, ENST00000575359, ENST00000576510, ENST00000918171, ENST00000948624

RefSeq mRNA: 4 — MANE Select: NM_002503 NM_001243116, NM_001369699, NM_001369700, NM_002503

CCDS: CCDS12524, CCDS74362, CCDS92612

Canonical transcript exons

ENST00000313582 — 6 exons

Exon	Start	End
ENSE00001232342	38907399	38907659
ENSE00001346486	38908731	38908889
ENSE00002669100	38899969	38900211
ENSE00003474448	38907221	38907309
ENSE00003572331	38905015	38905120
ENSE00003592721	38905202	38905535

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 95.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.7862 / max 340.1181, expressed in 1811 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175671	17.4427	1809
175672	0.5289	304
175673	0.3312	159
175670	0.2846	60
175669	0.1800	9
175668	0.0188	3

Top tissues by expression

139 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.08	gold quality
right testis	UBERON:0004534	94.90	gold quality
testis	UBERON:0000473	93.92	gold quality
granulocyte	CL:0000094	91.55	gold quality
gastrocnemius	UBERON:0001388	90.32	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.31	gold quality
mucosa of transverse colon	UBERON:0004991	90.09	gold quality
blood	UBERON:0000178	89.88	gold quality
substantia nigra	UBERON:0002038	89.17	gold quality
right lobe of liver	UBERON:0001114	88.81	gold quality
muscle of leg	UBERON:0001383	88.75	gold quality
putamen	UBERON:0001874	88.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.39	gold quality
heart left ventricle	UBERON:0002084	87.59	gold quality
temporal lobe	UBERON:0001871	87.45	gold quality
popliteal artery	UBERON:0002250	87.42	gold quality
tibial artery	UBERON:0007610	87.41	gold quality
amygdala	UBERON:0001876	87.39	gold quality
apex of heart	UBERON:0002098	87.26	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.21	gold quality
lower esophagus	UBERON:0013473	87.19	gold quality
Ammon’s horn	UBERON:0001954	87.16	gold quality
body of stomach	UBERON:0001161	87.11	gold quality
esophagus mucosa	UBERON:0002469	87.05	gold quality
lower esophagus mucosa	UBERON:0035834	86.93	gold quality
esophagus	UBERON:0001043	86.79	gold quality
thoracic aorta	UBERON:0001515	86.69	gold quality
ascending aorta	UBERON:0001496	86.65	gold quality
left coronary artery	UBERON:0001626	86.51	gold quality
right atrium auricular region	UBERON:0006631	86.43	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.05

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

21 targets.

Target	Regulation
CCL5
CHUK
CNR1
CXCL8
IFNB1	Repression
IKBKB
IL1B
MAP3K14
NFKB
NFKBIB
NOS2
PDLIM7
PLAU	Activation
PLG
PRNP
PTGS2
SDHC
SERPINB1
SOD2
SRXN1
TNF

Upstream regulators (CollecTRI, top): NFKB, NFKBIA, NFKBIB, PPARG, SOX17, SOX5, SRY

Literature-anchored findings (GeneRIF, showing 13)

• IkappaBbeta may be a novel target for transcription factors of the HMG-box SRY/Sox family and imply a potential role for NF-kappaB/IkappaBbeta in spermatogenesis (PMID:12475944)
• Data show that increased nuclear factor-kappaB (NF-kB) activity in the amnion during labor is associated with an increase in the expression of NF-kBp65 and of the NF-kB binding proteins IkBa, IkBb-1 and IkBb-2. (PMID:12651903)
• VEGF increased Mn-superoxide dismutase promoter activity, an effect that was dependent on a second intronic NF-kappaB consensus motif. (PMID:15308628)
• data indicate that inhibition of NFkappa-B activity by the hepatitis C virus core protein might be related to its physical interaction with and interrupted nuclear localization of IKKbeta (PMID:15919917)
• None of the NFKBIB SNPs are associated with pneumococcal susceptibility. (PMID:17463416)
• NF-kappaB, IkappaB-alpha, IkappaB-beta mRNA decreased significantly after weight loss. (PMID:18356846)
• increased I-kappaBbeta expression reversed NF-kappaB activation in cancer cells, compensating for the loss of I-kappaBalpha via TGase 2 polymerization. (PMID:18950638)
• NFKBIA and NFKBIB are not likely to harbor ovarian cancer risk alleles. (PMID:19500386)
• NFKBIBrs3136641TT single nucleotide polymorphism was associated with a significantly decreased risk of developing wheezing. (PMID:25326706)
• our data establish the importance of a novel tumor suppressive IKBB gene in abrogating angiogenesis in NPC via the NF-kappaB signalling pathway. (PMID:26227166)
• The subcellular distributions of IkappaB and NFkappaB are indicative of carcinogenesis. Inhibition of XPO1 results in intranuclear retention of IkappaB, which inhibits NFkappaB and thereby provides a novel mechanism for drug therapy in sarcoma. This effect can be further enhanced in relatively selinexor-resistant sarcoma cell lines by pretreatment with the proteasome inhibitor carfilzomib. (PMID:28314790)
• data suggest that miRNA-4776 modulates Influenza A virus production in infected cells through NFKBIB expression, possibly through the modulation of NF-kappaB. (PMID:28448456)
• The NF-kappaB regulator IkappaBbeta exhibits different molecular interactivity and phosphorylation status from IkappaBalpha in an IKK2-catalysed reaction. (PMID:32017069)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Nfkbib	ENSMUSG00000030595
rattus_norvegicus	Nfkbib	ENSRNOG00000020063
drosophila_melanogaster	cact	FBGN0000250
drosophila_melanogaster	iPLA2-VIA	FBGN0036053
drosophila_melanogaster	mask	FBGN0043884
caenorhabditis_elegans		WBGENE00011240
caenorhabditis_elegans		WBGENE00011423

Paralogs (4): NFKBIA (ENSG00000100906), ANKRD22 (ENSG00000152766), TONSL (ENSG00000160949), PLA2G6 (ENSG00000184381)

Protein

Protein identifiers

NF-kappa-B inhibitor beta — Q15653 (reviewed: Q15653)

Alternative names: I-kappa-B-beta, Thyroid receptor-interacting protein 9

All UniProt accessions (5): Q15653, G5E9C2, H0YFH0, I3L1A4, I3L4X3

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. However, the unphosphorylated form resynthesized after cell stimulation is able to bind NF-kappa-B allowing its transport to the nucleus and protecting it to further NFKBIA-dependent inactivation. Association with inhibitor kappa B-interacting NKIRAS1 and NKIRAS2 prevent its phosphorylation rendering it more resistant to degradation, explaining its slower degradation.

Subunit / interactions. Interacts with THRB (via ligand-binding domain). Interacts with RELA and REL. Interacts with COMMD1. Interacts with inhibitor kappa B-interacting Ras-like NKIRAS1 and NKIRAS2.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in all tissues examined.

Post-translational modifications. Phosphorylated by RPS6KA1; followed by degradation. Interaction with NKIRAS1 and NKIRAS2 probably prevents phosphorylation.

Similarity. Belongs to the NF-kappa-B inhibitor family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15653-1	1	yes
Q15653-2	2

RefSeq proteins (4): NP_001230045, NP_001356628, NP_001356629, NP_002494* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF00023, PF12796

UniProt features (23 total): repeat 6, modified residue 5, compositionally biased region 2, splice variant 2, mutagenesis site 2, sequence conflict 2, region of interest 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9CK0	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15653-F1	77.04	0.58

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 19, 23, 183, 313, 315

Mutagenesis-validated functional residues (2):

Position	Phenotype
19	no degradation; when associated with a-23.
23	no degradation; when associated with a-19.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1169091	Activation of NF-kappaB in B cells
R-HSA-1810476	RIP-mediated NFkB activation via ZBP1
R-HSA-445989	TAK1-dependent IKK and NF-kappa-B activation
R-HSA-933542	TRAF6 mediated NF-kB activation
R-HSA-9920951	Dengue virus modulates apoptosis

MSigDB gene sets: 242 (showing top): PID_BCR_5PATHWAY, REACTOME_DDX58_IFIH1_MEDIATED_INDUCTION_OF_INTERFERON_ALPHA_BETA, REACTOME_INNATE_IMMUNE_SYSTEM, KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MODULE_45, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, MODULE_16, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, RASHI_NFKB1_TARGETS, KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY

GO Biological Process (6): DNA-templated transcription (GO:0006351), inflammatory response (GO:0006954), signal transduction (GO:0007165), regulation of canonical NF-kappaB signal transduction (GO:0043122), cellular response to lipopolysaccharide (GO:0071222), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Downstream signaling events of B Cell Receptor (BCR)	1
ZBP1(DAI) mediated induction of type I IFNs	1
MyD88:MAL(TIRAP) cascade initiated on plasma membrane	1
Toll Like Receptor 3 (TLR3) Cascade	1
Interleukin-1 signaling	1
TRIF (TICAM1)-mediated TLR4 signaling	1
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	1
MyD88 cascade initiated on plasma membrane	1
DDX58/IFIH1-mediated induction of interferon-alpha/beta	1
Dengue Virus-Host Interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
gene expression	1
RNA biosynthetic process	1
defense response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
canonical NF-kappaB signal transduction	1
regulation of intracellular signal transduction	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1831 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NFKBIB	RELA	Q04206	996
NFKBIB	REL	Q04864	995
NFKBIB	RELB	Q01201	986
NFKBIB	NFKBIA	P25963	984
NFKBIB	NFKBIE	O00221	928
NFKBIB	IKBKB	O14920	897
NFKBIB	CHUK	O15111	878
NFKBIB	NFKB1	P19838	873
NFKBIB	IKBKG	Q9Y6K9	853
NFKBIB	NKIRAS1	Q9NYS0	835
NFKBIB	NFKBID	Q8NI38	818
NFKBIB	NKIRAS2	Q9NYR9	774
NFKBIB	TRAF6	Q9Y4K3	764
NFKBIB	NFKB2	Q00653	718
NFKBIB	TNF	P01375	710

IntAct

122 interactions, top by confidence:

A	B	Type	Score
RELA	NFKBIA	psi-mi:“MI:0914”(association)	0.980
RELA	NFKBIB	psi-mi:“MI:0915”(physical association)	0.890
NFKBIB	RELA	psi-mi:“MI:0915”(physical association)	0.890
NFKBIB	NFKB1	psi-mi:“MI:0914”(association)	0.820
NFKB1	IKBKB	psi-mi:“MI:0914”(association)	0.770
NFKBIB	MCC	psi-mi:“MI:0915”(physical association)	0.720
NFKBIA	POLRMT	psi-mi:“MI:0914”(association)	0.670
NFKBIB	CHUK	psi-mi:“MI:0914”(association)	0.670
FBXW11	NFKBIB	psi-mi:“MI:2364”(proximity)	0.650
BIRC7	HTRA2	psi-mi:“MI:0914”(association)	0.640
HIF1AN	GMDS	psi-mi:“MI:0914”(association)	0.640
RELA	NFKBIE	psi-mi:“MI:0914”(association)	0.620
NFKB1	NFKBIE	psi-mi:“MI:2364”(proximity)	0.600
NFKBIB	VPS52	psi-mi:“MI:0915”(physical association)	0.560
VPS52	NFKBIB	psi-mi:“MI:0915”(physical association)	0.560
NDUFB7	NFKBIB	psi-mi:“MI:0915”(physical association)	0.560
NFKBIB	BTBD6	psi-mi:“MI:0915”(physical association)	0.560
NFKBIB	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
EGFR	NDUFA4	psi-mi:“MI:0914”(association)	0.530
NFKBIB		psi-mi:“MI:0915”(physical association)	0.520
	NFKBIB	psi-mi:“MI:0915”(physical association)	0.520

BioGRID (150): VPS52 (Two-hybrid), BTRC (Affinity Capture-Western), NFKBIB (Affinity Capture-MS), NFKBIB (Affinity Capture-MS), POLR1E (Affinity Capture-MS), REL (Affinity Capture-MS), NFKB2 (Affinity Capture-MS), NFKB1 (Affinity Capture-MS), MCC (Affinity Capture-MS), RELA (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), TBP (Affinity Capture-MS), NFKBIB (Affinity Capture-MS), NFKBIB (Proximity Label-MS), NFKBIB (Two-hybrid)

ESM2 similar proteins: A0A8P0N4K0, A5YM72, A6NIK2, A6NIX2, D3KCC4, D3Z7H8, D3ZU57, O08742, O43822, O75427, O95382, P40197, Q02779, Q13470, Q14160, Q149C3, Q15653, Q16584, Q24K06, Q32P44, Q3UGP9, Q505F5, Q5BKY1, Q5I2M8, Q5RKR3, Q5U651, Q66HA1, Q6EMK4, Q6NSJ5, Q6UXK2, Q6UY18, Q76KP1, Q80U72, Q80XI6, Q80ZD5, Q86WK7, Q8C013, Q8K3W2, Q8N1G4, Q8WUA8

Diamond homologs: A2AQH4, A2AS55, A4II29, A5WVX9, A6QR20, B4E2M5, D3Z7P3, E9PTT0, G5EGA3, O83515, O94925, P13264, Q01317, Q15653, Q21920, Q3SX45, Q3U0L2, Q499M5, Q4FE45, Q4JHE0, Q502K3, Q54HW1, Q5H9F3, Q5U5A6, Q6NSI1, Q6NY19, Q6P6B7, Q7T3Y0, Q7Z6K4, Q80TN5, Q8IUH5, Q91ZA8, Q9BQI6, Q9CQ31, Q9VUW9, Q9XZC0, Q9Z2F6, O00221, O54910, P19838

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
RPS6KA1	“down-regulates quantity by destabilization”	NFKBIB	phosphorylation
IKBKB	down-regulates	NFKBIB	phosphorylation
MAP3K7	down-regulates	NFKBIB	phosphorylation
BTRC	“down-regulates quantity by destabilization”	NFKBIB	binding
“Cullin 1-RBX1-Skp1”	“down-regulates quantity by destabilization”	NFKBIB	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
MAP3K8 (TPL2)-dependent MAPK1/3 activation	7	66.6×	4e-10
RIP-mediated NFkB activation via ZBP1	7	62.7×	6e-10
Positive epigenetic regulation of rRNA expression	10	46.1×	3e-12
RNA Polymerase I Transcription Termination	10	43.5×	4e-12
TRAF6 mediated NF-kB activation	7	42.6×	1e-08
RNA Polymerase I Promoter Clearance	10	39.0×	9e-12
RNA Polymerase I Transcription	10	38.1×	9e-12
Negative epigenetic regulation of rRNA expression	10	34.6×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
non-canonical NF-kappaB signal transduction	6	64.0×	1e-07
protein refolding	5	39.5×	4e-05
canonical NF-kappaB signal transduction	8	37.1×	3e-08
tumor necrosis factor-mediated signaling pathway	5	20.9×	7e-04
autophagy	6	8.4×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

69 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

693 predictions. Top by Δscore:

Variant	Effect	Δscore
19:38900212:G:GG	donor_gain	1.0000
19:38905121:G:C	donor_loss	1.0000
19:38905122:T:G	donor_loss	1.0000
19:38905488:A:T	donor_gain	1.0000
19:38905532:GAGG:G	donor_gain	1.0000
19:38905534:GG:G	donor_gain	1.0000
19:38905534:GGGTG:G	donor_loss	1.0000
19:38905535:GG:G	donor_gain	1.0000
19:38905536:G:GC	donor_loss	1.0000
19:38905537:T:A	donor_loss	1.0000
19:38905554:G:T	donor_gain	1.0000
19:38907219:A:AG	acceptor_gain	1.0000
19:38907219:AG:A	acceptor_gain	1.0000
19:38907219:AGGC:A	acceptor_loss	1.0000
19:38907220:G:GT	acceptor_gain	1.0000
19:38907220:GG:G	acceptor_gain	1.0000
19:38907220:GGC:G	acceptor_gain	1.0000
19:38907220:GGCC:G	acceptor_gain	1.0000
19:38907220:GGCCA:G	acceptor_gain	1.0000
19:38907305:AACCG:A	donor_gain	1.0000
19:38907306:ACCG:A	donor_gain	1.0000
19:38907307:CCG:C	donor_gain	1.0000
19:38907307:CCGGT:C	donor_loss	1.0000
19:38907308:CGG:C	donor_loss	1.0000
19:38907310:G:C	donor_loss	1.0000
19:38907310:G:GG	donor_gain	1.0000
19:38907311:T:A	donor_loss	1.0000
19:38907393:CCACA:C	acceptor_loss	1.0000
19:38907394:CACA:C	acceptor_loss	1.0000
19:38907397:A:AG	acceptor_gain	1.0000

AlphaMissense

2296 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:38905107:A:T	N91I	0.998
19:38905108:T:A	N91K	0.998
19:38905108:T:G	N91K	0.998
19:38900208:A:G	D59G	0.997
19:38900208:A:C	D59A	0.996
19:38905106:A:T	N91Y	0.995
19:38900205:G:T	G58V	0.994
19:38900196:C:T	T55I	0.993
19:38905106:A:C	N91H	0.993
19:38905029:C:A	A65D	0.992
19:38900202:A:T	D57V	0.991
19:38900208:A:T	D59V	0.991
19:38900209:C:A	D59E	0.991
19:38900209:C:G	D59E	0.991
19:38905028:G:C	A65P	0.991
19:38905119:A:C	Q95P	0.991
19:38905206:C:A	A97D	0.991
19:38907242:C:A	A214D	0.991
19:38905528:C:A	N204K	0.990
19:38905528:C:G	N204K	0.990
19:38905023:A:G	H63R	0.989
19:38905026:T:C	L64S	0.989
19:38905035:T:A	I67N	0.989
19:38905035:T:C	I67T	0.989
19:38900168:T:A	W46R	0.988
19:38900168:T:C	W46R	0.988
19:38907241:G:C	A214P	0.988
19:38907433:C:A	A248E	0.988
19:38905017:C:A	A61E	0.987
19:38905032:T:A	V66E	0.987

dbSNP variants (sampled 300 via entrez): RS1000135301 (19:38903049 G>A), RS1000176229 (19:38907715 G>A,C), RS1000863013 (19:38908429 C>T), RS1001415776 (19:38898168 G>T), RS1001507894 (19:38897934 G>A), RS1001519456 (19:38899331 C>T), RS1001671849 (19:38904851 G>A), RS1001841464 (19:38899410 T>A,C), RS1002030777 (19:38899573 C>A,T), RS1002415039 (19:38904321 T>G), RS1002739175 (19:38909295 T>C), RS1002976881 (19:38897703 T>G), RS1003302005 (19:38902377 A>C,G), RS1003335015 (19:38908061 G>A), RS1003512691 (19:38901170 G>A)

Disease associations

OMIM: gene MIM:604495 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90013407_173	Liver enzyme levels (gamma-glutamyl transferase)	1.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2053071	Toxicity	3	gefitinib	Toxic liver disease

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2053071	NFKBIB, SIRT2	3	2.00	1	gefitinib
rs3136646	CCER2, NFKBIB		0.00	0

CTD chemical–gene interactions

88 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression, affects reaction, decreases expression, affects binding (+3 more)	5
sodium arsenite	decreases expression, decreases reaction, increases expression, increases degradation, increases phosphorylation	3
Bortezomib	increases expression, increases stability	3
potassium chromate(VI)	affects cotreatment, increases expression	2
bisphenol AF	affects binding, affects folding, increases reaction, decreases reaction	2
Arsenic Trioxide	decreases expression, increases expression	2
Acetylcysteine	decreases phosphorylation, decreases reaction	2
Air Pollutants	increases abundance, increases oxidation, affects expression, affects cotreatment	2
Aspirin	decreases reaction, increases degradation, increases phosphorylation	2
Benzo(a)pyrene	affects methylation, increases expression	2
Drugs, Chinese Herbal	decreases phosphorylation, increases expression	2
Estradiol	affects binding, increases reaction	2
Ozone	increases oxidation, increases abundance, affects expression, affects cotreatment	2
Tobacco Smoke Pollution	increases expression	2
Particulate Matter	increases expression, decreases reaction, increases degradation	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
2-anisidine	affects expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
baicalein	decreases phosphorylation	1
deoxynivalenol	increases expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects response to substance, affects expression	1
mangiferin	decreases reaction, increases degradation	1
beta-lapachone	decreases expression	1
sulforaphane	decreases reaction, increases degradation	1
benzo(e)pyrene	decreases methylation	1
vanadyl sulfate	increases degradation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, increases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1P6	Abcam K-562 NFKBIB KO	Cancer cell line	Female
CVCL_D2KS	Abcam Raji NFKBIB KO	Cancer cell line	Male
CVCL_TA65	HAP1 NFKBIB (-)	Cancer cell line	Male
CVCL_WQ09	Abcam Jurkat NFKBIB KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.