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Aliases for NFKB2 Gene

Aliases for NFKB2 Gene

  • Nuclear Factor Kappa B Subunit 2 2
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 2 (P49/P100) 2 3 5
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 2 3 4
  • 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 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
  • P49/P100 3
  • CVID10 3
  • LYT-10 3
  • NF-KB2 3
  • 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 nfkb2-related common variable immune deficiency. Among its related pathways are Immune System and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFKB2 Gene

Genomics for NFKB2 Gene

Regulatory Elements for NFKB2 Gene

Promoters for NFKB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NFKB2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NFKB2 gene promoter:

Genomic Location for NFKB2 Gene

Chromosome:
10
Start:
102,394,110 bp from pter
End:
102,402,529 bp from pter
Size:
8,420 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 StructureGene Density

RefSeq DNA sequence for NFKB2 Gene

Proteins for NFKB2 Gene

  • 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

Proteomics data for NFKB2 Gene at MOPED

Post-translational modifications for NFKB2 Gene

  • Constitutive processing is tightly suppressed by its C-terminal processing inhibitory domain, named PID, which contains the death domain.
  • Subsequent to MAP3K14-dependent serine phosphorylation, p100 polyubiquitination occurs then triggering its proteasome-dependent processing.
  • 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.
  • Ubiquitination at Lys 855
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NFKB2 (NFkB-p100)

No data available for DME Specific Peptides for NFKB2 Gene

Domains & Families for NFKB2 Gene

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.
  • Contains 7 ANK repeats.
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.
  • Contains 1 death domain.
  • Contains 1 RHD (Rel-like) domain.
Similarity:
  • Contains 7 ANK repeats.
genes like me logo Genes that share domains with NFKB2: view

Function for NFKB2 Gene

Molecular function for NFKB2 Gene

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
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.
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

miRNA for NFKB2 Gene

miRTarBase miRNAs that target NFKB2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for NFKB2 Gene COMPARTMENTS Subcellular localization image for NFKB2 gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for NFKB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 15677444
genes like me logo Genes that share ontologies with NFKB2: view

Pathways & Interactions for NFKB2 Gene

SuperPathways for NFKB2 Gene

Superpath Contained pathways
1 MyD88 cascade initiated on plasma membrane
2 Cytosolic sensors of pathogen-associated DNA
3 Toll-Like receptor Signaling Pathways
4 Immune response NFAT in immune response
5 Apoptosis Pathway
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 from RNA polymerase II promoter IBA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002467 germinal center formation IEA --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with NFKB2: view

Drugs & Compounds for NFKB2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker, Target, antagonist 1029
Glucosamine Approved Nutra Target, antagonist 53
Kaempferol Experimental Pharma Apoptosis inducer;antioxidant;flavonoid, Proapoptotic; downregulates PLK1 expression and activates mitochondrial Ca2+ uniporter 0
Piceatannol Experimental Pharma p56lck/Syk inhibitor, Inhibits TNF-induced NF-kappaB activation 0
CC-8490 Investigational Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10Z-Hymenialdisine
82005-12-7
Pyrrolidinedithiocarbamate ammonium
5108-96-3

(5) Tocris Compounds for NFKB2 Gene

Compound Action Cas Number
10Z-Hymenialdisine Pan kinase inhibitor; potently inhibits MEK1 82005-12-7
Bay 11-7085 Irreversible inhibitor of TNF-alpha-induced IkappaBalpha phosphorylation 196309-76-9
Betulinic acid Antitumor and anti-HIV agent; activates NF-kappaB. Also TGR5 agonist 472-15-1
Piceatannol Inhibits TNF-induced NF-kappaB activation 10083-24-6
Pyrrolidinedithiocarbamate ammonium Inhibits NF-kappaB, prevents increase in NOS mRNA 5108-96-3

(16) ApexBio Compounds for NFKB2 Gene

Compound Action Cas Number
2-(4-((2-(4-(Trifluoromethyl)phenyl)-5-methylthiazol-4-yl)methylthio)-2- methylphenoxy)acetic acid 317318-70-0
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
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
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
WS6 1421227-53-3
genes like me logo Genes that share compounds with NFKB2: view

Transcripts for NFKB2 Gene

Unigene Clusters for NFKB2 Gene

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

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

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NFKB2 Gene



SOURCE GeneReport for Unigene cluster for NFKB2 Gene Hs.73090

genes like me logo Genes that share expression patterns with NFKB2: view

Protein tissue co-expression partners for NFKB2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia NFKB2 35
  • 89.28 (n)
  • 91.77 (a)
NFKB2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFKB2 35
  • 89.56 (n)
  • 92.11 (a)
NFKB2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfkb2 35
  • 86.52 (n)
  • 91.89 (a)
Nfkb2 16
Nfkb2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFKB2 35
  • 99.7 (n)
  • 99.85 (a)
NFKB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfkb2 35
  • 86.82 (n)
  • 91.09 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves NFKB2 35
  • 67.31 (n)
  • 67.42 (a)
NFKB2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFKB2 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfkb2 35
  • 58.74 (n)
  • 57.54 (a)
zebrafish
(Danio rerio)
Actinopterygii nfkb2 35
  • 55.9 (n)
  • 52.87 (a)
wufa03b02 35
nfkb2 36
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dif 37
  • 36 (a)
dl 37
  • 41 (a)
Rel 37
  • 38 (a)
Rel 36
  • 21 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta REL2 35
  • 47.5 (n)
  • 34.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1675 36
  • 27 (a)
OneToMany
Species with no ortholog for NFKB2:
  • 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)

Paralogs for NFKB2 Gene

Paralogs for NFKB2 Gene

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

Pseudogenes.org Pseudogenes for NFKB2 Gene

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

Variants for NFKB2 Gene

Sequence variations from dbSNP and Humsavar for NFKB2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs45581936 - 102,396,271(+) TTATT(A/G)AATAT upstream-variant-2KB, reference, missense
rs45580031 - 102,398,798(+) CCTTC(A/C/G)GGGGT reference, missense
rs45471103 - 102,399,603(+) TGTTC(C/G)GCCTG reference, missense
rs11574848 - 102,399,345(+) CGGCG(C/G/T)GGGCC reference, missense
VAR_074035 -

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

Variant ID Type Subtype PubMed ID
nsv526665 CNV Loss 19592680
nsv525546 CNV Loss 19592680
nsv895970 CNV Loss 21882294
dgv814n71 CNV Loss 21882294
dgv815n71 CNV Loss 21882294

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)

Relevant External Links for NFKB2 Gene

HapMap Linkage Disequilibrium report
NFKB2
Human Gene Mutation Database (HGMD)
NFKB2

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

Disorders for NFKB2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NFKB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 10
  • common variable immunodeficiency with central adrenal insufficiency
nfkb2-related common variable immune deficiency
  • immunodeficiency, common variable, 10
icos-related common variable immune deficiency
  • immunodeficiency, common variable, 1
immunodeficiency, common variable, 1
  • cvid1
common variable immunodeficiency
  • acquired agammaglobulinemia
- 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
  • 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.
  • 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.

Genatlas disease for NFKB2 Gene

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

Relevant External Links for NFKB2

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

Publications for NFKB2 Gene

  1. Cloning of an NF-kappa B subunit which stimulates HIV transcription in synergy with p65. (PMID: 1876189) Schmid R.M. … Nabel G.J. (Nature 1991) 2 3 4 67
  2. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PMID: 18434448) Dieguez-Gonzalez R. … Gonzalez A. (Ann. Rheum. Dis. 2009) 3 23
  3. The Nfkb1 and Nfkb2 proteins p105 and p100 function as the core of high-molecular-weight heterogeneous complexes. (PMID: 19524538) Savinova O.V. … Ghosh G. (Mol. Cell 2009) 3 23
  4. High levels of p105 (NFKB1) and p100 (NFKB2) proteins in HPV16-transformed keratinocytes: role of E6 and E7 oncoproteins. (PMID: 15629778) Havard L. … Delvenne P. (Virology 2005) 3 23
  5. Transcriptional regulatory effects of lymphoma-associated NFKB2/lyt10 protooncogenes. (PMID: 10713675) Kim K.E. … Rabson A.B. (Oncogene 2000) 3 23

Products for NFKB2 Gene

Sources for NFKB2 Gene

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