Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4791
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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: 25     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 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]
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: 96,749

Sequence MESCYNPGLDGIIEYDDFKLNSSIVEPKEPAPETADGPYLVIVEQPKQRGFRFRYGCEGPSHGGLPGASSEKGRK
TYPTVKICNYEGPAKIEVDLVTHSDPPRAHAHSLVGKQCSELGICAVSVGPKDMTAQFNNLGVLHVTKKNMMGTM
IQKLQRQRLRSRPQGLTEAEQRELEQEAKELKKVMDLSIVRLRFSAFLRASDGSFSLPLKPVISQPIHDSKSPGA
SNLKISRMDKTAGSVRGGDEVYLLCDKVQKDDIEVRFYEDDENGWQAFGDFSPTDVHKQYAIVFRTPPYHKMKIE
RPVTVFLQLKRKRGGDVSDSKQFTYYPLVEDKEEVQRKRRKALPTFSQPFGGGSHMGGGSGGAAGGYGGAGGGGS
LGFFPSSLAYSPYQSGAGPMGCYPGGGGGAQMAATVPSRDSGEEAAEPSAPSRTPQCEPQAPEMLQRAREYNARL
FGLAQRSARALLDYGVTADARALLAGQRHLLTAQDENGDTPLHLAIIHGQTSVIEQIVYVIHHAQDLGVVNLTNH
LHQTPLHLAVITGQTSVVSFLLRVGADPALLDRHGDSAMHLALRAGAGAPELLRALLQSGAPAVPQLLHMPDFEG
LYPVHLAVRARSPECLDLLVDSGAEVEATERQGGRTALHLATEMEELGLVTHLVTKLRANVNARTFAGNTPLHLA
AGLGYPTLTRLLLKAGADIHAENEEPLCPLPSPPTSDSDSDSEGPEKDTRSSFRGHTPLDLTCSTKVKTLLLNAA
QNTMEPPLTPPSPAGPGLSLGDTALQNLEQLLDGPEAQGSWAELAERLGLRSLVDTYRQTTSPSGSLLRSYELAG
GDLAGLLEALSDMGLEEGVRLLRGPETRDKLPSTAEVKEDSAYGSQSVEQEAEKLGPPPEPPGGLCHGHPQPQVH
Structural information
Protein Domains
RHD. (38-343)
Death. (764-851)

Motifs
Nuclear localization(337-341)
Interpro:  IPR002110 IPR020683 IPR011029 IPR000488 IPR013783 IPR014756 IPR002909 IPR033926 IPR000451 IPR008967 IPR030492 IPR032397 IPR011539
Prosite:   PS50297 PS50088 PS01204 PS50254

Pfam:  
PF12796 PF00531 PF16179 PF00554
CDD:   cd01177

PDB:  
1A3Q 2D96 3DO7 4OT9
PDBsum:   1A3Q 2D96 3DO7 4OT9

DIP:  
24239 27535
MINT:   7944680
STRING:   ENSP00000358983;
Other Databases GeneCards:  NFKB2;  Malacards:  NFKB2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IBA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0002268 follicular dendritic cell
differentiation
IEA biological_process
GO:0002467 germinal center formation
IEA biological_process
GO:0003682 chromatin binding
IBA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0003713 transcription coactivator
activity
TAS 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
IBA 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:0006355 regulation of transcripti
on, DNA-templated
IDA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological_process
GO:0006954 inflammatory response
IBA biological_process
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
IBA biological_process
GO:0007568 aging
IEA biological_process
GO:0030198 extracellular matrix orga
nization
IEA biological_process
GO:0032481 positive regulation of ty
pe I interferon productio
n
TAS biological_process
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0033257 Bcl3/NF-kappaB2 complex
IDA cellular_component
GO:0034097 response to cytokine
IBA biological_process
GO:0038061 NIK/NF-kappaB signaling
IBA biological_process
GO:0038061 NIK/NF-kappaB signaling
TAS biological_process
GO:0045087 innate immune response
IBA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0048511 rhythmic process
IEA biological_process
GO:0048536 spleen development
IEA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
TAS biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IBA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0002268 follicular dendritic cell
differentiation
IEA biological_process
GO:0002467 germinal center formation
IEA biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003682 chromatin binding
IBA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0003713 transcription coactivator
activity
TAS 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005829 cytosol
IBA 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:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IDA biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IEA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological_process
GO:0006954 inflammatory response
IBA biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
IBA biological_process
GO:0007568 aging
IEA biological_process
GO:0030198 extracellular matrix orga
nization
IEA biological_process
GO:0032481 positive regulation of ty
pe I interferon productio
n
TAS biological_process
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0033257 Bcl3/NF-kappaB2 complex
IDA cellular_component
GO:0034097 response to cytokine
IEA biological_process
GO:0034097 response to cytokine
IBA biological_process
GO:0038061 NIK/NF-kappaB signaling
IEA biological_process
GO:0038061 NIK/NF-kappaB signaling
IEA biological_process
GO:0038061 NIK/NF-kappaB signaling
IBA biological_process
GO:0038061 NIK/NF-kappaB signaling
TAS biological_process
GO:0045087 innate immune response
IBA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0048511 rhythmic process
IEA biological_process
GO:0048536 spleen development
IEA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
TAS biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IBA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0003682 chromatin binding
IBA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0003713 transcription coactivator
activity
TAS 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
IBA 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:0006355 regulation of transcripti
on, DNA-templated
IDA biological_process
GO:0006954 inflammatory response
IBA biological_process
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
IBA biological_process
GO:0032481 positive regulation of ty
pe I interferon productio
n
TAS biological_process
GO:0033257 Bcl3/NF-kappaB2 complex
IDA cellular_component
GO:0034097 response to cytokine
IBA biological_process
GO:0038061 NIK/NF-kappaB signaling
IBA biological_process
GO:0038061 NIK/NF-kappaB signaling
TAS biological_process
GO:0045087 innate immune response
IBA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
TAS biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa05166  HTLV-I infection
hsa04010  MAPK signaling pathway
hsa05169  Epstein-Barr virus infection
hsa05224  Breast cancer
hsa05203  Viral carcinogenesis
hsa04380  Osteoclast differentiation
hsa04064  NF-kappa B signaling pathway
hsa05134  Legionellosis

Diseases

Associated diseases References
Alzheimer's disease PMID: 16385451
Cancer PMID: 19573080
Endometriosis PMID: 19129371
Immunodeficiency OMIM: 164012
Endometriosis INFBASE19129371
Rheumatoid arthritis PMID: 18434448

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19129371 Endometrio
sis

79 (37 women wi
th endometriosi
s, 42 fertile w
omen during lap
aroscopy)
Female infertility NFKB
Show abstract