NFKB2 Gene (Protein Coding)

Nuclear Factor Kappa B Subunit 2

GC10P102394
GIFtS:
52
This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p1... See more...

Aliases for NFKB2 Gene

Aliases for NFKB2 Gene

  • Nuclear Factor Kappa B Subunit 2 2 3 5
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 2 (P49/P100) 2 3
  • Lymphocyte Translocation Chromosome 10 Protein 3 4
  • Nuclear Factor NF-Kappa-B P100 Subunit 3 4
  • DNA-Binding Factor KBF2 3 4
  • Oncogene Lyt-10 3 4
  • P49/P100 2 3
  • LYT-10 2 3
  • NF-KB2 2 3
  • H2TF1 3 4
  • LYT10 3 4
  • P52 2 3
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 2 4
  • Nuclear Factor Of Kappa Light Chain Gene Enhancer In B Cells 2 3
  • Nuclear Factor NF-Kappa-B P52 Subunit 3
  • Nuclear Factor Kappa-B, Subunit 2 3
  • Transcription Factor NFKB2 3
  • NFKB, P52/P100 Subunit 3
  • CVID10 3
  • NFKB2 5
  • Lyt10 4
  • P100 3
  • P105 2

External Ids for NFKB2 Gene

Previous GeneCards Identifiers for NFKB2 Gene

  • GC10P103047
  • GC10P103387
  • GC10P104285
  • GC10P103818
  • GC10P104144
  • GC10P097787

Summaries for NFKB2 Gene

Entrez Gene Summary for NFKB2 Gene

  • This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for NFKB2 Gene

NFKB2 (Nuclear Factor Kappa B Subunit 2) is a Protein Coding gene. Diseases associated with NFKB2 include Immunodeficiency, Common Variable, 10 and Common Variable Immunodeficiency. Among its related pathways are Immune response IL-23 signaling pathway and Toll-Like receptor Signaling Pathways. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NFKB1.

UniProtKB/Swiss-Prot Summary for NFKB2 Gene

  • NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Isoform p49 is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. In concert with RELB, regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer.

Tocris Summary for NFKB2 Gene

  • NF-kappaB (nuclear factor-kappa B) is a rapidly acting primary transcription factor found in all cell types. It is involved in the cellular responses to stimuli such as cytokines and stress and plays a key role in regulating the immunological response to infections.

Gene Wiki entry for NFKB2 Gene

Additional gene information for NFKB2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFKB2 Gene

Genomics for NFKB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NFKB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFKB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFKB2

Top Transcription factor binding sites by QIAGEN in the NFKB2 gene promoter:
  • p53
  • STAT3

Genomic Locations for NFKB2 Gene

Latest Assembly
chr10:102,394,110-102,402,529
(GRCh38/hg38)
Size:
8,420 bases
Orientation:
Plus strand

Previous Assembly
chr10:104,153,867-104,162,286
(GRCh37/hg19 by Entrez Gene)
Size:
8,420 bases
Orientation:
Plus strand

chr10:104,153,867-104,162,281
(GRCh37/hg19 by Ensembl)
Size:
8,415 bases
Orientation:
Plus strand

Genomic View for NFKB2 Gene

Genes around NFKB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFKB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFKB2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NFKB2 Gene

Proteins for NFKB2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for NFKB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00653-NFKB2_HUMAN
    Recommended name:
    Nuclear factor NF-kappa-B p100 subunit
    Protein Accession:
    Q00653
    Secondary Accessions:
    • A8K9D9
    • D3DR83
    • Q04860
    • Q9BU75
    • Q9H471
    • Q9H472

    Protein attributes for NFKB2 Gene

    Size:
    900 amino acids
    Molecular mass:
    96749 Da
    Quaternary structure:
    • Component of the NF-kappa-B RelB-p52 complex. Homodimer; component of the NF-kappa-B p52-p52 complex. Component of the NF-kappa-B p65-p52 complex. Component of the NF-kappa-B p52-c-Rel complex. NFKB2/p52 interacts with NFKBIE. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Directly interacts with MEN1.
    SequenceCaution:
    • Sequence=CAA43715.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NFKB2 Gene

    Alternative splice isoforms for NFKB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFKB2 Gene

Protein Expression for NFKB2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NFKB2 Gene

  • While translation occurs, the particular unfolded structure after the GRR repeat promotes the generation of p52 making it an acceptable substrate for the proteasome. This process is known as cotranslational processing. The processed form is active and the unprocessed form acts as an inhibitor (I kappa B-like), being able to form cytosolic complexes with NF-kappa B, trapping it in the cytoplasm. Complete folding of the region downstream of the GRR repeat precludes processing.
  • Subsequent to MAP3K14-dependent serine phosphorylation, p100 polyubiquitination occurs then triggering its proteasome-dependent processing.
  • Constitutive processing is tightly suppressed by its C-terminal processing inhibitory domain, named PID, which contains the death domain.
  • Ubiquitination at Lys855
  • Modification sites at PhosphoSitePlus

Other Protein References for NFKB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for NFKB2 Gene

Domains & Families for NFKB2 Gene

Gene Families for NFKB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFKB2 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Cell surface receptor IPT/TIG
  • Death domain
  • NF-kappa-B/Rel/dorsal family
  • Rel homology

Suggested Antigen Peptide Sequences for NFKB2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75135, highly similar to Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100), mRNA (A8K9D9_HUMAN)
  • Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (P49/p100), isoform CRA_c (D3DR86_HUMAN)
  • Oncogene Lyt-10 (NFKB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00653

UniProtKB/Swiss-Prot:

NFKB2_HUMAN :
  • The C-terminus of p100 might be involved in cytoplasmic retention, inhibition of DNA-binding by p52 homodimers, and/or transcription activation.
Domain:
  • The C-terminus of p100 might be involved in cytoplasmic retention, inhibition of DNA-binding by p52 homodimers, and/or transcription activation.
  • The glycine-rich region (GRR) appears to be a critical element in the generation of p52.
genes like me logo Genes that share domains with NFKB2: view

Function for NFKB2 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for NFKB2 Gene

UniProtKB/Swiss-Prot Function:
NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Isoform p49 is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. In concert with RELB, regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer.
GENATLAS Biochemistry:
nuclear transcription factor of kappa light chain gene enhancer in B cells,2,(encoding the p100 precursor and the amino-terminal active p52(p49)subunit),NF-kappa B/REL family

Phenotypes From GWAS Catalog for NFKB2 Gene

Gene Ontology (GO) - Molecular Function for NFKB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12835724
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 12835724
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 1760839
genes like me logo Genes that share ontologies with NFKB2: view
genes like me logo Genes that share phenotypes with NFKB2: view

Human Phenotype Ontology for NFKB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFKB2 Gene

MGI Knock Outs for NFKB2:

Animal Models for research

miRNA for NFKB2 Gene

miRTarBase miRNAs that target NFKB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFKB2

Clone products for research

  • Addgene plasmids for NFKB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NFKB2 Gene

Localization for NFKB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFKB2 Gene

Nucleus. Cytoplasm. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFKB2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFKB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 15677444
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15677444
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NFKB2: view

Pathways & Interactions for NFKB2 Gene

PathCards logo

SuperPathways for NFKB2 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
Toll Like Receptor 9 (TLR9) Cascade
.94
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
.94
Activated TLR4 signalling
.91
Toll Like Receptor 4 (TLR4) Cascade
.91
MyD88 cascade initiated on plasma membrane
.88
Toll Like Receptor 10 (TLR10) Cascade
.88
Toll Like Receptor 5 (TLR5) Cascade
.88
MyD88 dependent cascade initiated on endosome
.86
Toll Like Receptor 7/8 (TLR7/8) Cascade
.86
MyD88-independent TLR3/TLR4 cascade
.86
Toll Like Receptor 3 (TLR3) Cascade
.86
TRIF-mediated TLR3/TLR4 signaling
.86
MyD88-Mal cascade initiated on plasma membrane
.85
Toll Like Receptor 2 (TLR2) Cascade
.85
Toll Like Receptor TLR1-TLR2 Cascade
.85
Toll Like Receptor TLR6-TLR2 Cascade
.85
Toll-Like Receptors Cascades
.82
2 Cytosolic sensors of pathogen-associated DNA
RIP-mediated NFkB activation via ZBP1
.84
ZBP1(DAI) mediated induction of type I IFNs
.84
TRAF6 mediated NF-kB activation
.53
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
.47
Cytosolic sensors of pathogen-associated DNA
.37
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
.01
IkBA variant leads to EDA-ID
.01
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
.01
3 Toll-Like receptor Signaling Pathways
NOD-like Receptor Signaling Pathways
.59
Toll-Like receptor Signaling Pathways
.59
Inflammasome Activation Pathways
.51
IL-1 Family Signaling Pathways
.43
Mucin expression in CF via TLRs, EGFR signaling pathways
.42
Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway
.33
4 Immune response NFAT in immune response
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
5 Apoptosis Pathway
Apoptosis Pathway
.45
NF-kappaB Pathway
.45
Akt Pathway
.39
genes like me logo Genes that share pathways with NFKB2: view

Pathways by source for NFKB2 Gene

1 Sino Biological pathway for NFKB2 Gene
47 GeneGo (Thomson Reuters) pathways for NFKB2 Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival Lymphotoxin-beta receptor signaling
  • Apoptosis and survival TNFR1 signaling pathway
2 Qiagen pathways for NFKB2 Gene
  • LT-BetaR Pathway
  • NF-KappaB Family Pathway
1 Cell Signaling Technology pathway for NFKB2 Gene
2 GeneTex pathways for NFKB2 Gene

SIGNOR curated interactions for NFKB2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFKB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002268 follicular dendritic cell differentiation IEA --
GO:0002467 germinal center formation IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 8360178
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with NFKB2: view

Drugs & Compounds for NFKB2 Gene

Products:

  1. Drug products for research

(37) Drugs for NFKB2 Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Donepezil Approved Pharma Target, inhibitor 327
glycyrrhizin Approved, Experimental Pharma Target, translocation inhibitor 28
Fish oil Approved Nutra Target, regulator 0
Sulfasalazine Approved Pharma NF-κB activation inhibitor 89
SC 236 Experimental, Investigational Pharma Target, inhibitor 0

(1) Additional Compounds for NFKB2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SP 100030
154563-54-9

(3) Tocris Compounds for NFKB2 Gene

Compound Action Cas Number
Pyrrolidinedithiocarbamate ammonium Inhibits NF-kappaB, prevents increase in NOS mRNA 5108-96-3
SP 100030 NF-kappaB and AP-1 dual inhibitor 154563-54-9
Tanshinone IIA Inhibits NF-kappaB and AP-1 DNA binding. Displays antioxidant properties 568-72-9

(22) ApexBio Compounds for NFKB2 Gene

Compound Action Cas Number
Andrographolide NF-κB signaling Inhibitor 5508-58-7
Bay 11-7085 NK-κB activation inhibitor 196309-76-9
Bay 11-7821(BAY 11-7082) IKK/NF-κB/TNFα inhibitor 19542-67-7
Caffeic Acid Phenethyl Ester NF-κB activation inhibitor 104594-70-9
Emodin Naturally occurring anthraquinone,antiproliferative 518-82-1
Honokiol Antioxidant/antitumor/antiangiogenic agent 35354-74-6
IKK-16 (IKK Inhibitor VII) Selective IκB kinase inhibitor 873225-46-8
IMD 0354 978-62-1
JSH-23 NF-κB inhibitor 749886-87-1
Kaempferol Apoptosis inducer;antioxidant;flavonoid 520-18-3
Luteolin Antioxidant and free radical scavenger 491-70-3
Matrine Alkaloid found in Sophora plant 519-02-8
QNZ (EVP4593) Potent NF-κB inhibitor 545380-34-5
SC75741 913822-46-5
Sodium 4-Aminosalicylate 6018-19-5
Sodium salicylate 54-21-7
Sulfasalazine NF-κB activation inhibitor 599-79-1
Tanshinone IIA Antioxidant and anti-inflammatory reagent 568-72-9
TPCA-1 IKK-2 inhibitor,potent and selective 507475-17-4
Triptolide IL-2/MMP-3/MMP7/MMP19 inhibitor 38748-32-2
Verbascoside PKC/NF-κB inhibitor 61276-17-3
WS6 1421227-53-3
genes like me logo Genes that share compounds with NFKB2: view

Drug products for research

Transcripts for NFKB2 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for NFKB2 Gene

6 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFKB2

Clone products for research

  • Addgene plasmids for NFKB2

Alternative Splicing Database (ASD) splice patterns (SP) for NFKB2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a ·
SP1: - -
SP2: -
SP3: -
SP4:
SP5: - -
SP6:
SP7:
SP8: - - - -
SP9: - - -
SP10:
SP11:
SP12:

ExUns: 17b · 17c ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for NFKB2 Gene

GeneLoc Exon Structure for
NFKB2

Expression for NFKB2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFKB2 Gene

mRNA expression in normal human tissues for NFKB2 Gene
mRNA expression by BioGPS for NFKB2 GenemRNA expression by GTEx for NFKB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NFKB2 Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for NFKB2 Gene

This gene is overexpressed in Lymph node (18.4), Peripheral blood mononuclear cells (14.0), and Heart (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NFKB2 Gene



Protein tissue co-expression partners for NFKB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NFKB2

SOURCE GeneReport for Unigene cluster for NFKB2 Gene:

Hs.73090

Evidence on tissue expression from TISSUES for NFKB2 Gene

  • Liver(4.5)
  • Lymph node(3)
  • Spleen(2.9)
  • Intestine(2.8)
  • Bone marrow(2.8)
  • Blood(2.8)
  • Lung(2.6)
  • Skin(2.6)
  • Kidney(2.4)
  • Nervous system(2.4)
  • Muscle(2.3)
  • Stomach(2.3)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NFKB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • meninges
  • middle ear
  • neck
  • pituitary gland
  • sinus
  • skull
  • thyroid
Thorax:
  • bronchus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • rectum
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with NFKB2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for NFKB2 Gene

Orthologs for NFKB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFKB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NFKB2 29 30
  • 99.7 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 94 (a)
 OneToMany
-- 30
  • 77 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia NFKB2 29 30
  • 89.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NFKB2 29 30
  • 89.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nfkb2 29
  • 86.82 (n)
Mouse
(Mus musculus)
 Mammalia Nfkb2 29 16 30
  • 86.52 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves NFKB2 29 30
  • 67.31 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NFKB2 30
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia nfkb2 29
  • 58.74 (n)
Zebrafish
(Danio rerio)
 Actinopterygii nfkb2 29 30
  • 55.9 (n)
 OneToOne
wufa03b02 29
African malaria mosquito
(Anopheles gambiae)
 Insecta REL2 29
  • 47.5 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta dl 31
  • 41 (a)
Dif 31
  • 36 (a)
Rel 30 31
  • 21 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.1675 30
  • 27 (a)
 OneToMany
Species where no ortholog for NFKB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NFKB2 Gene

ENSEMBL:
Gene Tree for NFKB2 (if available)
TreeFam:
Gene Tree for NFKB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFKB2: view image
Alliance of Genome Resources:
Additional Orthologs for NFKB2

Paralogs for NFKB2 Gene

Paralogs for NFKB2 Gene

(5) SIMAP similar genes for NFKB2 Gene using alignment to 4 proteins:

  • NFKB2_HUMAN
  • D3DR86_HUMAN
  • M0QZX1_HUMAN
  • M0R119_HUMAN

Pseudogenes.org Pseudogenes for NFKB2 Gene

genes like me logo Genes that share paralogs with NFKB2: view

Variants for NFKB2 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFKB2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1000283 Uncertain Significance: Common variable immunodeficiency 10 102,401,915(+) G/A
NM_001322934.2(NFKB2):c.2464G>A (p.Glu822Lys) 		MISSENSE
1000962 Uncertain Significance: Common variable immunodeficiency 10 102,397,344(+) G/A
NM_001322934.2(NFKB2):c.438G>A (p.Met146Ile) 		MISSENSE
1005790 Uncertain Significance: Common variable immunodeficiency 10 102,400,388(+) T/TCTGGCGCTGCGGG
NM_001322934.2(NFKB2):c.1699_1734dup (p.Ala567_Leu578dup) 		INFRAME_INSERTION
1006434 Uncertain Significance: Common variable immunodeficiency 10 102,401,882(+) A/G
NM_001322934.2(NFKB2):c.2431A>G (p.Thr811Ala) 		MISSENSE
1006763 Uncertain Significance: Common variable immunodeficiency 10 102,397,981(+) A/G
NM_001322934.2(NFKB2):c.662A>G (p.Lys221Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NFKB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NFKB2 Gene

Variant ID Type Subtype PubMed ID
nsv1159761 CNV deletion 26073780
nsv525546 CNV loss 19592680
nsv526665 CNV loss 19592680
nsv552058 CNV loss 21841781
nsv951006 CNV deletion 24416366

Variation tolerance for NFKB2 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFKB2 Gene

Human Gene Mutation Database (HGMD)
NFKB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFKB2
Leiden Open Variation Database (LOVD)
NFKB2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFKB2 Gene

Disorders for NFKB2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for NFKB2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 10
  • cvid10
common variable immunodeficiency
  • acquired agammaglobulinemia
immunodeficiency, common variable, 1
  • cvid1
immunodeficiency 10
  • imd10
lymphoma
  • lymphoid cancer
- elite association - COSMIC cancer census association via MalaCards
Search NFKB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFKB2_HUMAN
  • Note=A chromosomal aberration involving NFKB2 is found in a case of B-cell non Hodgkin lymphoma (B-NHL). Translocation t(10;14)(q24;q32) with IGHA1. The resulting oncogene is also called Lyt-10C alpha variant.
  • Note=A chromosomal aberration involving NFKB2 is found in a cutaneous T-cell leukemia (C-TCL) cell line. This rearrangement produces the p80HT gene which codes for a truncated 80 kDa protein (p80HT).
  • Note=In B-cell leukemia (B-CLL) cell line, LB40 and EB308, can be found after heterogeneous chromosomal aberrations, such as internal deletions.
  • Immunodeficiency, common variable, 10 (CVID10) [MIM:615577]: A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency. {ECO:0000269 PubMed:24140114, ECO:0000269 PubMed:25524009}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for NFKB2 Gene

lymphoma,B cell,non Hodgkin,associated with breakpoint in t(10;14)(q24;q32) translocation

Additional Disease Information for NFKB2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NFKB2: view

Publications for NFKB2 Gene

  1. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. (PMID: 25524009) Brue T … Samuels ME (BMC medical genetics 2014) 3 4 72
  2. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. (PMID: 24140114) Chen K … Voelkerding KV (American journal of human genetics 2013) 3 4 72
  3. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PMID: 18434448) Dieguez-Gonzalez R … Gonzalez A (Annals of the rheumatic diseases 2009) 3 22 40
  4. The generation of nfkb2 p52: mechanism and efficiency. (PMID: 10597218) Heusch M … Greene WC (Oncogene 1999) 3 4 22
  5. Structural and functional characterization of the promoter regions of the NFKB2 gene. (PMID: 7541912) Lombardi L … Neri A (Nucleic acids research 1995) 3 4 22

ExternalLinks

View latest publications for NFKB2 gene in Mastermind

Products for NFKB2 Gene