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NFKB2 Gene(Protein Coding)

Nuclear Factor Kappa B Subunit 2

GCID:
GC10P102394
GIFtS:
60
Genes Participants
UDN Logo

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
  • DNA-Binding Factor KBF2 3 4
  • Oncogene Lyt-10 3 4
  • H2TF1 3 4
  • LYT10 3 4
  • 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 P100 Subunit 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
  • P49/P100 3
  • CVID10 3
  • LYT-10 3
  • NF-KB2 3
  • Lyt10 4
  • P100 3
  • P52 3

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 Immunodeficiency, Common Variable, 1. Among its related pathways are MAPK Pathway and Activated TLR4 signalling. 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 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 , fRNAdb sequence ontologies and piRNA Summary for NFKB2 Gene

Genomics for NFKB2 Gene

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GeneHancer (GH) Regulatory Elements for NFKB2 Gene

Promoters and enhancers for NFKB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J102393 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 655 +1.7 1666 4.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 E2F8 NFKB2 PPRC1 GBF1 SFXN2 C10orf95 MFSD13A ELOVL3 TAF5 PITX3 RPARP-AS1
GH10J102111 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.7 -276.4 -276376 11.6 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B IRF4 LDB1 HPS6 PPRC1 NFKB2 NOLC1 BORCS7 C10orf95 KCNIP2-AS1 KCNIP2 PSD
GH10J102798 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 24.7 +407.7 407663 5.7 USF1 JUN MAX EBF1 RAD21 YY1 RELA POLR2A FOS ETV6 NFKB2 PPRC1 BORCS7 PDCD11 AS3MT CALHM2 LDB1 WBP1L SFXN2 NT5C2
GH10J102772 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.1 +384.6 384576 11.8 PKNOX1 FOXA2 SIN3A YY1 ZNF121 GLIS2 FOS RUNX3 RXRA REST WBP1L SFXN2 AS3MT ARL3 PPRC1 NFKB2 LDB1 PDCD11 BORCS7 CYP17A1
GH10J101781 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.4 -610.5 -610535 3.3 ATF1 ARID4B SIN3A DMAP1 GLI4 ZNF2 YY1 ETS1 GLIS2 ZNF213 NPM3 NFKB2 WBP1L OGA
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for NFKB2 Gene

Genomic Locations for NFKB2 Gene
chr10:102,394,110-102,402,529
(GRCh38/hg38)
Size:
8,420 bases
Orientation:
Plus strand
chr10:104,153,867-104,162,281
(GRCh37/hg19)
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

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  • 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; Positions=456, 458, 470, 900; 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:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for NFKB2 Gene

GenScript: Design optimal peptide antigens:

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

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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 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12835724
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA --
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 Model Products

CRISPR Products

miRNA for NFKB2 Gene

miRTarBase miRNAs that target NFKB2

Inhibitory RNA Products

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

Clone Products

  • 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 1
mitochondrion 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:0005634 nucleus IDA 15677444
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15677444
GO:0005829 cytosol TAS,IBA --
GO:0033257 Bcl3/NF-kappaB2 complex IDA 9407099
genes like me logo Genes that share ontologies with NFKB2: view

Pathways & Interactions for NFKB2 Gene

SuperPathways for NFKB2 Gene

PathCards logo More details on SuperPathways for NFKB2
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
.36
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 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
4 Toll-like Receptor Signaling Pathway
Toll-like Receptor Signaling Pathway
.92
Regulation of toll-like receptor signaling pathway
.71
NOD-like Receptor Signaling Pathways
.39
5 RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
Virus Detection and Induction of Antiviral Signaling Pathways by RIG-I-like Receptors (RLR)
.48
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
.47
Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway
.33
genes like me logo Genes that share pathways with NFKB2: view

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:0000122 negative regulation of transcription by RNA polymerase II IBA --
GO:0002268 follicular dendritic cell differentiation IEA --
GO:0002467 germinal center formation IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 8360178
genes like me logo Genes that share ontologies with NFKB2: view

Drugs & Compounds for NFKB2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker, Target, antagonist 1232
glycyrrhizin Approved, Experimental Pharma Inhibition, Inhibitor, Target, translocation inhibitor 22
Fish oil Approved Nutra Target, regulator 0
Glucosamine Approved, Investigational Nutra Target, antagonist 211
Sulfasalazine Approved Pharma Inhibition, Inhibitor NF-κB activation inhibitor 63

(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
genes like me logo Genes that share compounds with NFKB2: view

Transcripts for NFKB2 Gene

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  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NFKB2 Gene

(11) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(151) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NFKB2 Gene

Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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Clone Products

  • 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
ECgene alternative splicing isoforms for
NFKB2

Expression for NFKB2 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of NFKB2 Gene:

NFKB2

SOURCE GeneReport for Unigene cluster for NFKB2 Gene:

Hs.73090

Evidence on tissue expression from TISSUES for NFKB2 Gene

  • Liver(4.3)
  • Blood(2.5)
  • Lymph node(2.4)
  • Bone marrow(2.2)
  • Lung(2.2)
  • Spleen(2.2)
  • Intestine(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

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 34 33
  • 99.7 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 94 (a)
 OneToMany
-- 34
  • 77 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia NFKB2 34 33
  • 89.56 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia NFKB2 34 33
  • 89.28 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Nfkb2 33
  • 86.82 (n)
mouse
(Mus musculus)
 Mammalia Nfkb2 16 34 33
  • 86.52 (n)
chicken
(Gallus gallus)
 Aves NFKB2 34 33
  • 67.31 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia NFKB2 34
  • 61 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia nfkb2 33
  • 58.74 (n)
zebrafish
(Danio rerio)
 Actinopterygii nfkb2 34 33
  • 55.9 (n)
 OneToOne
wufa03b02 33
African malaria mosquito
(Anopheles gambiae)
 Insecta REL2 33
  • 47.5 (n)
fruit fly
(Drosophila melanogaster)
 Insecta dl 35
  • 41 (a)
Dif 35
  • 36 (a)
Rel 34 35
  • 21 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.1675 34
  • 27 (a)
 OneToMany
Species where no ortholog for NFKB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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 Assay

Sequence variations from dbSNP and Humsavar for NFKB2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs11191279 benign, Common variable immunodeficiency 10 102,401,464(+) C/T coding_sequence_variant, synonymous_variant
rs11574851 benign, Common variable immunodeficiency 10 102,401,202(+) C/T coding_sequence_variant, synonymous_variant
rs11574853 benign, not specified, Common variable immunodeficiency 10 102,402,039(+) T/A intron_variant
rs138786808 benign, Common variable immunodeficiency 10 102,400,725(+) G/A coding_sequence_variant, synonymous_variant
rs201550645 likely-benign, Common variable immunodeficiency 10 102,401,177(+) C/T intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NFKB2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NFKB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 10
  • cvid10
immunodeficiency, common variable, 1
  • cvid1
common variable immunodeficiency
  • acquired agammaglobulinemia
immunodeficiency 10
  • imd10
b cell deficiency
  • b cell deficiencies
- 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 mutations 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NFKB2: view

Publications for NFKB2 Gene

  1. 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 44 58
  2. The generation of nfkb2 p52: mechanism and efficiency. (PMID: 10597218) Heusch M … Greene WC (Oncogene 1999) 3 4 22 58
  3. 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 58
  4. Rearrangement and altered expression of the NFKB-2 gene in human cutaneous T-lymphoma cells. (PMID: 8036016) Thakur S … Rabson AB (Oncogene 1994) 3 4 22 58
  5. Heterogeneous chromosomal aberrations generate 3' truncations of the NFKB2/lyt-10 gene in lymphoid malignancies. (PMID: 7949142) Migliazza A … Neri A (Blood 1994) 3 4 22 58

Products for NFKB2 Gene

  • Addgene plasmids for NFKB2

Sources for NFKB2 Gene