Human Gene NFKB2 (uc001kva.4)
  Description: Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 3, non-coding RNA.
RefSeq Summary (NM_002502): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:104,153,867-104,162,286 Size: 8,420 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr10:104,155,717-104,162,133 Size: 6,417 Coding Exon Count: 22 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:104,153,867-104,162,286)mRNA (may differ from genome)Protein (899 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NFKB2
CDC HuGE Published Literature: NFKB2
Positive Disease Associations: Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response
Related Studies:
  1. Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response
    Potter C et al. 2010, Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NF{kappa}B signalling pathways., Annals of the rheumatic diseases 69(7) : 1315-20 2010. [PubMed 20448286]
    Several SNPs mapping to the TLR and NFkappaB signalling systems demonstrated association with anti-TNF response as a whole and, in particular, with response to etanercept. Validation of these findings in an independent cohort is now warranted.

-  MalaCards Disease Associations
  MalaCards Gene Search: NFKB2
Diseases sorted by gene-association score: immunodeficiency, common variable, 10* (1279), nfkb2-related common variable immune deficiency* (500), immunodeficiency, common variable, 1* (283), icos-related common variable immune deficiency* (283), common variable immunodeficiency* (148), b cell deficiency (10), lymphoma (7), hodgkin lymphoma (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 82.14 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 641.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -286.90563-0.510 Picture PostScript Text
3' UTR -36.32153-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00023 - Ankyrin repeat
PF00531 - Death domain
PF00554 - Rel homology DNA-binding domain
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF16179 - Rel homology dimerisation domain

SCOP Domains:
47986 - DEATH domain
81296 - E set domains
49417 - p53-like transcription factors
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q00653-4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF211354 - JP 2014500723-A/18857: Polycomb-Associated Non-Coding RNAs.
BC002844 - Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100), mRNA (cDNA clone MGC:3685 IMAGE:3634575), complete cds.
S76638 - p50-NF-kappa B homolog [human, peripheral blood T cells, mRNA, 3113 nt].
LF213820 - JP 2014500723-A/21323: Polycomb-Associated Non-Coding RNAs.
X61499 - H.sapiens mRNA for NF-kB subunit.
X61498 - H.sapiens mRNA for NF-kB subunit.
AK292654 - Homo sapiens cDNA FLJ75135 complete cds, highly similar to Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100), mRNA.
JD401119 - Sequence 382143 from Patent EP1572962.
JD508273 - Sequence 489297 from Patent EP1572962.
AB384801 - Synthetic construct DNA, clone: pF1KB3411, Homo sapiens NFKB2 gene for nuclear factor NF-kappa-B p100 subunit, complete cds, without stop codon, in Flexi system.
U09609 - Homo sapiens p80HT (NKFB2) mRNA, complete cds.
KT935449 - Homo sapiens nuclear factor NF-kappa-B p100 subunit (NFKB2) mRNA, complete cds.
BT009769 - Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) mRNA, complete cds.
LF345853 - JP 2014500723-A/153356: Polycomb-Associated Non-Coding RNAs.
LF345855 - JP 2014500723-A/153358: Polycomb-Associated Non-Coding RNAs.
AK098415 - Homo sapiens cDNA FLJ25549 fis, clone JTH01566, highly similar to NUCLEAR FACTOR NF-KAPPA-B P100 SUBUNIT.
LF345856 - JP 2014500723-A/153359: Polycomb-Associated Non-Coding RNAs.
LF345857 - JP 2014500723-A/153360: Polycomb-Associated Non-Coding RNAs.
LF345858 - JP 2014500723-A/153361: Polycomb-Associated Non-Coding RNAs.
JD125735 - Sequence 106759 from Patent EP1572962.
LF345859 - JP 2014500723-A/153362: Polycomb-Associated Non-Coding RNAs.
LF345860 - JP 2014500723-A/153363: Polycomb-Associated Non-Coding RNAs.
LF345861 - JP 2014500723-A/153364: Polycomb-Associated Non-Coding RNAs.
MA581430 - JP 2018138019-A/153356: Polycomb-Associated Non-Coding RNAs.
MA581432 - JP 2018138019-A/153358: Polycomb-Associated Non-Coding RNAs.
MA581433 - JP 2018138019-A/153359: Polycomb-Associated Non-Coding RNAs.
MA581434 - JP 2018138019-A/153360: Polycomb-Associated Non-Coding RNAs.
MA581435 - JP 2018138019-A/153361: Polycomb-Associated Non-Coding RNAs.
MA581436 - JP 2018138019-A/153362: Polycomb-Associated Non-Coding RNAs.
MA581437 - JP 2018138019-A/153363: Polycomb-Associated Non-Coding RNAs.
MA581438 - JP 2018138019-A/153364: Polycomb-Associated Non-Coding RNAs.
MA446931 - JP 2018138019-A/18857: Polycomb-Associated Non-Coding RNAs.
MA449397 - JP 2018138019-A/21323: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa05200 - Pathways in cancer

Reactome (by CSHL, EBI, and GO)

Protein Q00653 (Reactome details) participates in the following event(s):

R-HSA-5607720 p100:RELB binds active NIK:p-IKKA dimer
R-HSA-5607741 p52:RELB translocates from cytosol to nucleus
R-HSA-168166 NFkB complex is transported from cytosol to nucleus
R-HSA-168140 Phospho-IKK Complex phosphorylates IkB within the IkB:NFkB Complex
R-HSA-8865237 SETD6 methylates RELA in the NFkB complex
R-HSA-5607726 Active NIK:p-S176,180-IKKA dimer phosphorylates p100:RELB
R-HSA-5607723 SCF-beta-TRCP binds p-7S-p100 in active NIK:p-S176,180-IKKA dimer:p-7S-p100:RELB
R-HSA-5607761 Dectin-1 mediated noncanonical NF-kB signaling
R-HSA-5676590 NIK-->noncanonical NF-kB signaling
R-HSA-445989 TAK1 activates NFkB by phosphorylation and activation of IKKs complex
R-HSA-933542 TRAF6 mediated NF-kB activation
R-HSA-1810476 RIP-mediated NFkB activation via ZBP1
R-HSA-3134963 DEx/H-box helicases activate type I IFN and inflammatory cytokines production
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-5668541 TNFR2 non-canonical NF-kB pathway
R-HSA-5603029 IkBA variant leads to EDA-ID
R-HSA-166058 MyD88:Mal cascade initiated on plasma membrane
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade
R-HSA-937061 TRIF(TICAM1)-mediated TLR4 signaling
R-HSA-975138 TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975871 MyD88 cascade initiated on plasma membrane
R-HSA-9020702 Interleukin-1 signaling
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-1606322 ZBP1(DAI) mediated induction of type I IFNs
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-5602358 Diseases associated with the TLR signaling cascade
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-168188 Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-166166 MyD88-independent TLR4 cascade
R-HSA-975155 MyD88 dependent cascade initiated on endosome
R-HSA-168142 Toll Like Receptor 10 (TLR10) Cascade
R-HSA-168176 Toll Like Receptor 5 (TLR5) Cascade
R-HSA-446652 Interleukin-1 family signaling
R-HSA-168249 Innate Immune System
R-HSA-4839726 Chromatin organization
R-HSA-168256 Immune System
R-HSA-5260271 Diseases of Immune System
R-HSA-181438 Toll Like Receptor 2 (TLR2) Cascade
R-HSA-168138 Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168181 Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-449147 Signaling by Interleukins
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: LYT10, NM_002502, NP_002493, NR_048560, Q00653-4, uc001kva.3
UCSC ID: uc001kva.4
RefSeq Accession: NM_002502
Protein: Q00653-4, splice isoform of Q00653 CCDS: CCDS41564.1, CCDS41565.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NR_048560.1
exon count: 23CDS single in 3' UTR: no RNA size: 3416
ORF size: 2700CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 5312.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.