• Gene id: 4791

Gene Summary

• Gene Symbol: NFKB2   Gene   UCSC   Ensembl
• Aliases: CVID10, H2TF1, LYT-10, LYT10, NF-kB2, p100, p49/p100, p52
• Gene name: nuclear factor kappa B subunit 2
• Alternate names: nuclear factor NF-kappa-B p100 subunit, DNA-binding factor KBF2, NFKB, p52/p100 subunit, lymphocyte translocation chromosome 10 protein, nuclear factor Kappa-B, subunit 2, nuclear factor NF-kappa-B p52 subunit, nuclear factor of Kappa light chain gene enhancer ,
• Gene location: 10q24.32 (102394109: 102402528)     Exons: 13     NC_000010.11
• Gene summary(Entrez): 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 enc
• OMIM: 164012

Protein Summary

• Protein general information: Q00653  
  • Name: Nuclear factor NF kappa B p100 subunit (DNA binding factor KBF2) (H2TF1) (Lymphocyte translocation chromosome 10 protein) (Nuclear factor of kappa light polypeptide gene enhancer in B cells 2) (Oncogene Lyt 10) (Lyt10) [Cleaved into: Nuclear factor NF kap
  • Length: 900  
  • Mass: 96749
• Sequence:

  MESCYNPGLDGIIEYDDFKLNSSIVEPKEPAPETADGPYLVIVEQPKQRGFRFRYGCEGPSHGGLPGASSEKGRK
  TYPTVKICNYEGPAKIEVDLVTHSDPPRAHAHSLVGKQCSELGICAVSVGPKDMTAQFNNLGVLHVTKKNMMGTM
  IQKLQRQRLRSRPQGLTEAEQRELEQEAKELKKVMDLSIVRLRFSAFLRASDGSFSLPLKPVISQPIHDSKSPGA
  SNLKISRMDKTAGSVRGGDEVYLLCDKVQKDDIEVRFYEDDENGWQAFGDFSPTDVHKQYAIVFRTPPYHKMKIE
  RPVTVFLQLKRKRGGDVSDSKQFTYYPLVEDKEEVQRKRRKALPTFSQPFGGGSHMGGGSGGAAGGYGGAGGGGS
  LGFFPSSLAYSPYQSGAGPMGCYPGGGGGAQMAATVPSRDSGEEAAEPSAPSRTPQCEPQAPEMLQRAREYNARL
  FGLAQRSARALLDYGVTADARALLAGQRHLLTAQDENGDTPLHLAIIHGQTSVIEQIVYVIHHAQDLGVVNLTNH
  LHQTPLHLAVITGQTSVVSFLLRVGADPALLDRHGDSAMHLALRAGAGAPELLRALLQSGAPAVPQLLHMPDFEG
  LYPVHLAVRARSPECLDLLVDSGAEVEATERQGGRTALHLATEMEELGLVTHLVTKLRANVNARTFAGNTPLHLA
  AGLGYPTLTRLLLKAGADIHAENEEPLCPLPSPPTSDSDSDSEGPEKDTRSSFRGHTPLDLTCSTKVKTLLLNAA
  QNTMEPPLTPPSPAGPGLSLGDTALQNLEQLLDGPEAQGSWAELAERLGLRSLVDTYRQTTSPSGSLLRSYELAG
  GDLAGLLEALSDMGLEEGVRLLRGPETRDKLPSTAEVKEDSAYGSQSVEQEAEKLGPPPEPPGGLCHGHPQPQVH

• Structural information:
  • Protein Domains: (38..34-)
    (/note="RHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00265-)
    (764..85-)
    (/note="Death"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR011029  IPR000488   IPR013783  IPR014756  IPR002909  IPR033926  IPR000451  IPR008967  IPR030492  IPR032397  IPR011539  IPR037059  
  • Prosite: PS50297 PS50088 PS01204 PS50254
  • CDD: cd01177
  • PDB: 1A3Q 2D96 3DO7 4OT9 5ZMC
  • PDBsum: 1A3Q 2D96 3DO7 4OT9 5ZMC
  • DIP: 24239 27535
  • STRING: ENSP00000358983
• Other Databases: GeneCards:  NFKB2  Malacards:  NFKB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045087	innate immune response	IBA	biological process
GO:0034097	response to cytokine	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0003682	chromatin binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0038061	NIK/NF-kappaB signaling	IBA	biological process
GO:0033256	I-kappaB/NF-kappaB complex	IBA	cellular component
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0006954	inflammatory response	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0038061	NIK/NF-kappaB signaling	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0002268	follicular dendritic cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0002467	germinal center formation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0038061	NIK/NF-kappaB signaling	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0033257	Bcl3/NF-kappaB2 complex	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa05224	Breast cancer
hsa04380	Osteoclast differentiation
hsa04064	NF-kappa B signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa05134	Legionellosis

Diseases

Associated diseases	References
Common variable immunodeficiency	KEGG:H00088
Common variable immunodeficiency	KEGG:H00088
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq