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NFKBIE Gene

protein-coding GIFtS: 64
GCID: GC06M044226

Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer...

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disease database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Epsilon¹ ²		ikappaBepsilon²
I-kappa-B-epsilon² ³		NF-Kappa-B Inhibitor Epsilon²
IKBE² ³		IkB-E³
NF-kappa-BIE² ³		IkB-epsilon³
ikB-E²		IkappaBepsilon³
ikB-epsilon²

External Ids:	HGNC: 7799¹	Entrez Gene: 4794²	Ensembl: ENSG00000146232⁷	OMIM: 604548⁵	UniProtKB: O00221³

Export aliases for NFKBIE gene to outside databases

Previous GC identifers: GC06M044224 GC06M044273 GC06M044334 GC06M043947

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NFKBIE Gene:

The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and

preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for

destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the

nucleus. (provided by RefSeq, Sep 2011)

GeneCards Summary for NFKBIE Gene:

NFKBIE (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon) is a protein-coding gene. An important paralog of this gene is NFKBID.

UniProtKB/Swiss-Prot: IKBE_HUMAN, O00221

Function: Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of

NF-kappa-B p50-p65 and p50-c-Rel complexes

Gene Wiki entry for NFKBIE Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000006.11 NC_018917.2 NT_007592.16

Regulatory elements:

Regulatory transcription factor binding sites in the NFKBIE gene promoter:
ISGF-3 Elk-1 GATA-3 MyoD E47 Egr-4 Egr-2 RORalpha1 IRF-2 c-Myb
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for NFKBIE

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NFKBIE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.1 Ensembl cytogenetic band: 6p21.1 HGNC cytogenetic band: 6p21.1

NFKBIE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFKBIE gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M044226: view genomic region (about GC identifiers)

Start:	44,225,903 bp from pter	End:	44,233,525 bp from pter
Size:	7,623 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: IKBE_HUMAN, O00221 (See protein sequence)

Recommended Name: NF-kappa-B inhibitor epsilon

Size: 500 amino acids; 52864 Da

Subunit: Interacts with RELA, REL, NFKB1 nuclear factor NF-kappa-B p50 subunit and NFKB2 nuclear factor NF-kappa-B

p52 subunit

Sequence caution: Sequence=AAC51216.1; Type=Frameshift; Positions=339, 351;

Secondary accessions: Q5T9V9

Explore the universe of human proteins at neXtProt for NFKBIE: NX_O00221

Explore proteomics data for NFKBIE at MOPED

Post-translational modifications:

Serine phosphorylated; followed by proteasome-dependent degradation¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See NFKBIE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_004547.2

ENSEMBL proteins:

ENSP00000275015 ENSP00000394658 ENSP00000454778

Reactome Protein details: O00221

NFKBIE Human Recombinant Protein Products:

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	Novus Biologicals NFKBIE Protein
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for NFKBIE
	Search GeneTex for Proteins for NFKBIE
	antibodies-online proteins for NFKBIE (5 products)
	antibodies-online peptides for NFKBIE

NFKBIE Antibody Products:

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	Novus Biologicals NFKBIE Antibodies
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	ThermoFisher Antibodies for NFKBIE
	antibodies-online antibodies for NFKBIE (59 products)

NFKBIE Assay Products:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for NFKBIE
	antibodies-online kits for NFKBIE (11 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

HGNC Gene Families:

ANKRD: Ankyrin repeat domain containing

2 InterPro protein domains:

IPR002110 Ankyrin_rpt

IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry O00221

ProtoNet protein and cluster: O00221

UniProtKB/Swiss-Prot: IKBE_HUMAN, O00221

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

Similarity: Contains 6 ANK repeats

Find genes that share domains with NFKBIE About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: IKBE_HUMAN, O00221

Function: Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of

NF-kappa-B p50-p65 and p50-c-Rel complexes

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	14743216

Find genes that share ontologies with NFKBIE About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for NFKBIE:

Decreased nuclei size in G2M

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Nfkbie):

cellular

hematopoietic system

immune system

mortality/aging

skeleton

Find genes that share phenotypes with NFKBIE About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for NFKBIE

miRNA Products:		miRTarBase miRNAs that target NFKBIE: hsa-mir-935 (MIRT036677), hsa-mir-26b-5p (MIRT029491)

		Block miRNA regulation of human, mouse, rat NFKBIE using miScript Target Protectors
		6 qRT-PCR Assays for microRNAs that regulate NFKBIE:
		hsa-miR-2355-5p hsa-miR-1184 hsa-miR-3611 hsa-miR-2115 hsa-miR-1264 hsa-miR-3692
		SwitchGear 3'UTR luciferase reporter plasmid: NFKBIE 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFKBIE

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

IKBE_HUMAN, O00221: Cytoplasm (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	4
golgi apparatus	2
nucleus	2
mitochondrion	1
peroxisome	1
plasma membrane	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	TAS	9135156
GO:0005794	Golgi apparatus	IEA	--
GO:0005829	cytosol	TAS	--
GO:0048471	perinuclear region of cytoplasm	IEA	--

Find genes that share ontologies with NFKBIE About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for NFKBIE About (see all 59)

See pathways by source

Powered
by

SuperPath

Contained pathways About

TWEAK Pathway

TWEAK Pathway	0.87	Apoptosis and survival TNFR1 signaling pathway	0.52
DR3 Signaling	0.87	GITR Pathway	0.46
TNFR1 Pathway	0.56	Apoptosis through Death Receptors	0.42
TNF Signaling	0.55	TRAIL Pathway	0.40

NOD-like Receptor Signaling Pathways

NOD-like Receptor Signaling Pathways	0.58	Mucin expression in CF via TLRs, EGFR signaling pathways	0.42
Toll-Like receptor Signaling Pathways	0.58	Immune response IL-1 signaling pathway	0.41
Inflammasome Activation Pathways	0.51	Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways	0.31
IL-1 Family Signaling Pathways	0.44

RANK Signaling in Osteoclasts

APRIL Pathway	0.92	Apoptosis and survival APRIL and BAFF signaling	0.39
BAFF in B-Cell Signaling	0.92	RANK Pathway	0.38
RANK Signaling in Osteoclasts	0.45

Toll Comparative Pathway

Toll Comparative Pathway	0.61	IL-1 Pathway	0.39
TLR-TRIF Pathway	0.61	iNOS Signaling	0.34
Immune response MIF in innate immunity response	0.46

IL-17 Family Signaling Pathways

IL-17 Family Signaling Pathways

0.51

Mucin expression in CF via IL-6, IL-17 signaling pathways

0.48

Find genes that share SuperPaths with NFKBIE About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

Selected R&D Systems Pathways for NFKBIE (see all 6)

	NOD-like Receptor Signaling Pathways
	Inflammasome Activation Pathways
	IL-1 Family Signaling Pathways
	IL-17 Family Signaling Pathways
	Toll-Like receptor Signaling Pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NFKBIE (see all 56)

	TWEAK Pathway
	Toll-Like Receptors Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	G12-G13 in Cellular Signaling

1 Cell Signaling Technology (CST) Pathway for NFKBIE

NF-kappaB Signaling

Selected GeneGo (Thomson Reuters) Pathways for NFKBIE (see all 45)

	Development A2A receptor signaling
	Immune response Bacterial infections in normal airways
	Immune response MIF in innate immunity response
	Development EGFR signaling pathway
	Signal transduction AKT signaling

2 BioSystems Pathways for NFKBIE

	Apoptosis
	TNF-alpha/NF-kB Signaling Pathway

1 Reactome Pathway for NFKBIE

Activation of NF-kappaB in B cells

5 Kegg Pathways (Kegg details for NFKBIE):

	T cell receptor signaling pathway
	B cell receptor signaling pathway
	Neurotrophin signaling pathway
	Adipocytokine signaling pathway
	Epstein-Barr virus infection

Pathway & Disease-focused RT² Profiler PCR Arrays including NFKBIE:

NFKB Signaling Pathway in human mouse rat

Cancer Drug Resistance in human mouse rat

Interactions:

GeneGlobe Interaction Network for NFKBIE

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for NFKBIE (O00221^{1, 2, 3} ENSP00000275015⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 76)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP6R2	O75170¹^,²^,³, ENSP00000379093⁴	EBI-355098,EBI-359739 MINT-8214278 I2D: score=3 STRING: ENSP00000379093
NFKB1	P19838²^,³, ENSP00000226574⁴	MINT-47886 MINT-48536 MINT-47905 MINT-48647 I2D: score=6 STRING: ENSP00000226574
NFKB2	Q00653²^,³, ENSP00000189444⁴	MINT-47947 MINT-48708 I2D: score=7 STRING: ENSP00000189444
JUP	P14923²^,³, ENSP00000311113⁴	MINT-67718 I2D: score=4 STRING: ENSP00000311113
CHUK	O15111²^,³, ENSP00000359424⁴	MINT-47878 I2D: score=2 STRING: ENSP00000359424

About this table

Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0042942	D-serine transport	IEA	--
GO:0042994	cytoplasmic sequestering of transcription factor	TAS	9135156

Find genes that share ontologies with NFKBIE About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for NFKBIE (IKBE)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for NFKBIE gene:

NM_004556.2

Unigene Cluster for NFKBIE:

Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon

Hs.458276 [show with all ESTs]

Unigene Representative Sequence: NM_004556

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000275015(uc003oxe.1) ENST00000443607 ENST00000477930

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		6 qRT-PCR Assays for microRNAs that regulate NFKBIE:
		hsa-miR-2355-5p hsa-miR-1184 hsa-miR-3611 hsa-miR-2115 hsa-miR-1264 hsa-miR-3692
		SwitchGear 3'UTR luciferase reporter plasmid: NFKBIE 3' UTR sequence

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		QuantiFast Probe-based Assays in human, mouse, rat NFKBIE

Additional mRNA sequence:

AK301360.1 BC011676.2 BC063609.1 U91616.1

7 DOTS entries:

DT.414540 DT.97861805 DT.100775152 DT.100775155 DT.100775245 DT.100775157 DT.91738521

Selected AceView cDNA sequences (see all 521):

AI247313 BM798639 BQ416606 Z42389 BU733561 BQ723739 BE514895 CN483394

AA731845 BU538684 BM451910 N67775 BU538801 BQ684732 BC016839 BM759339

AA593617 BM684630 AI419032 BM709117 BQ898825 BX367255 AA298497 BQ233834

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for NFKBIE About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7a	·	7b
SP1:
SP2:
SP3:					-

ECgene alternative splicing isoforms for NFKBIE

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NFKBIE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACACTAAAAT

About this image

NFKBIE expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 9) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Inner Cell Mass (Early Embryonic Tissues)
Blimp1- mVenus and stella-ECFP genetically modified stem cells

Bone (Muscoskeletal System)
Bone Marrow

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

NFKBIE Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

NFKBIE Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.458276

UniProtKB/Swiss-Prot: IKBE_HUMAN, O00221

Tissue specificity: Highly expressed in spleen, testis and lung, followed by kidney, pancreas, heart, placenta and

brain. Also expressed in granulocytes and macrophages

Pathway & Disease-focused RT² Profiler PCR Arrays including NFKBIE:

NFKB Signaling Pathway in human mouse rat

Cancer Drug Resistance in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for NFKBIE OriGene qSTAR qPCR primer pairs in human, mouse for NFKBIE
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat NFKBIE
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		QuantiFast Probe-based Assays in human, mouse, rat NFKBIE

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFKBIE

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NFKBIE gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nfkbie^{1 , 5}	nuclear factor of kappa light polypeptide gene enhancer more^{1, 5}	82.41(n)¹ 83.06(a)¹		17 (22.58 cM)⁵ 18037¹ NM_008690.3¹ NP_032716.2¹ 45555716⁵
chicken (Gallus gallus)	Aves	NFKBIE¹	nuclear factor of kappa light polypeptide gene enhancer more	66.37(n) 59.94(a)		421438 XM_419490.4 XP_419490.3
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	17(a)	many ↔ many	GL343521.1(270589-280596)
African clawed frog (Xenopus laevis)	Amphibia	AF549907.1²	--	75.5(n)		AF549907.1
zebrafish (Danio rerio)	Actinopterygii	nfkbie¹	nuclear factor of kappa light polypeptide gene enhancer more	53.35(n) 45.12(a)		790944 NM_001080089.1 NP_001073558.1
fruit fly (Drosophila melanogaster)	Insecta	cact⁶	cactus	20(a)	1 → many	2L(16313029-16326101)

ENSEMBL Gene Tree for NFKBIE (if available)
TreeFam Gene Tree for NFKBIE (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for NFKBIE gene

NFKBID² NFKBIB² NFKBIA² BCL3² NFKBIZ²

4 SIMAP similar genes for NFKBIE using alignment to 5 protein entries: IKBE_HUMAN (see all proteins):

IkBa NFKBIA PPP1R12A BCL3

Find genes that share paralogs with NFKBIE About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10081001^1,2	C,F,H	--	44227330(+)	`GGGGGG/ACTGCT`	1	--	int¹		7		NS EA WA	616
rs114687188^1,2	F	--	44227345(+)	`ACTCGC/TAGAAC`	1	--	int¹		1		WA	118
rs192077387^1,2		--	44227419(+)	`TTCACC/GTCTCA`	1	--	int¹		0	--	--	--	--
rs73435655^1,2	C	--	44227709(+)	`CCCTTG/TCAGCT`	1	--	int¹		1		WA	2
rs199629224^1,2		--	44227744(+)	`GGGTGC/TGCAAG`	1	--	int¹		0	--	--	--	--
rs201932612^1,2		--	44227747(+)	`TGTGCA/CAGGCC`	1	--	int¹		0	--	--	--	--
rs12211448^1,2	C,F	--	44227751(+)	`CAAGGC/ACCTGG`	1	--	int¹		11		NS NA EU	2183
rs11553589^1,2	C,F	--	44227810(-)	`GTGGAG/AGATGA`	2	/E	syn¹ ese³		2		NA EU	5861
rs115968920^1,2		--	44227868(+)	`TGCCCA/GTGAGA`	2	T M	mis¹		1		EA	184
rs114572607^1,2	F	--	44227870(+)	`CCCATG/AAGACC`	2	/L	syn¹		1		EA	210

HapMap Linkage Disequilibrium report for NFKBIE (44225903 - 44233525 bp)

Structural Variations
Database of Genomic Variants (DGV) 7 variations for NFKBIE: About this table

Variant ID	Type	Subtype	PubMed ID
nsv5282	CNV	Insertion	18451855
dgv6844n71	CNV	Loss	21882294
nsv462936	CNV	Loss	19166990
nsv885857	CNV	Loss	21882294
nsv524398	CNV	Loss	19592680
nsv885851	CNV	Loss	21882294
dgv6843n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): NFKBIE

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 604548 OMIM disorders: --

Find genes that share disorders with NFKBIE About GenesLikeMe

Genetic Association Database (GAD): NFKBIE
Human Genome Epidemiology (HuGE) Navigator: NFKBIE (24 documents)

Export disorders for NFKBIE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NFKBIE gene, integrated from 10 sources (see all 47):
(articles sorted by number of sources associating them with NFKBIE)

IkappaB epsilon, a novel member of the IkappaB family, controls RelA and cRel NF-kappaB activity. (PubMed id 9135156)^{1, 2, 3} Whiteside S.T.... Israel A. (EMBO J. 1997)
IkappaB genetic polymorphisms and invasive pneumococcal disease. (PubMed id 17463416)^{1, 4, 9} Chapman S.J....Hill A.V. (Am. J. Respir. Crit. Care Med. 2007)
Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PubMed id 18434448)^{1, 4, 9} Dieguez-Gonzalez R....Gonzalez A. (Ann. Rheum. Dis. 2009)
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PubMed id 22446963)^{1, 4} Okada Y....Yamamoto K. (Nat. Genet. 2012)
Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PubMed id 20140262)^{1, 4} Ryckman K.K....Jacobsson B. (PLoS ONE 2010)
Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NF{kappa}B signalling pathways. (PubMed id 20448286)^{1, 4} Potter C....Isaacs J.D. (Ann. Rheum. Dis. 2010)
Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)^{1, 4} Guey L.T....Malats N. (Eur. Urol. 2010)
Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)^{1, 4} Segat L....Crovella S. (Vaccine 2010)
Polymorphisms in oxidative stress and inflammation pathway genes, low-dose ionizing radiation, and the risk of breast cancer among US radiologic technologists. (PubMed id 20711808)^{1, 4} Schonfeld S.J....Sigurdson A.J. (amp 2010)
Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut. (PubMed id 20568250)^{1, 4} Lee K.M....Lan Q. (Am. J. Hematol. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4794	HGNC: 7799	AceView: NFKBIEandSLC35B2	Ensembl:ENSG00000146232	euGenes: HUgn4794
ECgene: NFKBIE	Kegg: 4794	H-InvDB: NFKBIE

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NFKBIE	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NFKBIE	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for NFKBIE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NFKBIE gene:
Search GeneIP for patents involving NFKBIE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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