Contents

NFKB2

Protein-coding gene in the species Homo sapiens

NFKB2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1A3Q, 2D96, 3DO7, 4OT9
Identifiers
Aliases	NFKB2, CVID10, H2TF1, LYT-10, LYT10, NF-kB2, p105, p52, p100, p49/p100, nuclear factor kappa B subunit 2
External IDs	OMIM: 164012; MGI: 1099800; HomoloGene: 1873; GeneCards: NFKB2; OMA:NFKB2 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q24.32 Start 102,394,110 bp[1] End 102,402,524 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 C3|19 38.8 cM Start 46,292,759 bp[2] End 46,300,824 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte muscle layer of sigmoid colon spleen epithelium of colon monocyte left uterine tube lymph node upper lobe of left lung gallbladder sural nerve Top expressed in mesenteric lymph nodes granulocyte spleen aortic valve cumulus cell ascending aorta motor neuron thymus lip renal vein More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity transcription coactivator activity DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm Bcl3/NF-kappaB2 complex nucleus nucleoplasm cytosol Biological process response to cytokine regulation of transcription, DNA-templated rhythmic process germinal center formation human ageing extracellular matrix organization negative regulation of transcription by RNA polymerase II spleen development transcription, DNA-templated follicular dendritic cell differentiation response to lipopolysaccharide NIK/NF-kappaB signaling positive regulation of NF-kappaB transcription factor activity inflammatory response I-kappaB kinase/NF-kappaB signaling positive regulation of type I interferon production positive regulation of transcription by RNA polymerase II signal transduction transcription by RNA polymerase II innate immune response Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4791 18034 Ensembl ENSG00000077150 ENSMUSG00000025225 UniProt Q00653 Q9WTK5 RefSeq (mRNA) NM_001077494 NM_001261403 NM_001288724 NM_002502 NM_001322934 NM_001322935 NM_001177369 NM_001177370 NM_019408 RefSeq (protein) NP_001070962 NP_001248332 NP_001275653 NP_001309863 NP_001309864 NP_002493 NP_001170840 NP_001170841 NP_062281 Location (UCSC) Chr 10: 102.39 – 102.4 Mb Chr 19: 46.29 – 46.3 Mb PubMed search [3] [4]
Wikidata
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Nuclear factor NF-kappa-B p100 subunit is a protein that in humans is encoded by the NFKB2 gene.^[5]

Function[edit]

NF-κB has been detected in numerous cell types that express cytokines, chemokines, growth factors, cell adhesion molecules, and some acute phase proteins in health and in various disease states. NF-κB is activated by a wide variety of stimuli such as cytokines, oxidant-free radicals, inhaled particles, ultraviolet irradiation, and bacterial or viral products. Inappropriate activation of NF-kappa-B has been linked to inflammatory events associated with autoimmune arthritis, asthma, septic shock, lung fibrosis, glomerulonephritis, atherosclerosis, and AIDS. In contrast, complete and persistent inhibition of NF-kappa-B has been linked directly to apoptosis, inappropriate immune cell development, and delayed cell growth. For reviews, see Chen et al. (1999) and Baldwin (1996).[supplied by OMIM]^[6]

Clinical significance[edit]

Mutation of the NFKB2 gene has been linked to Common variable immunodeficiency (CVID) as the cause of the disease. Other genes might also be responsible. The frequency of NFKB2 mutation in CVID population is yet to be established.^[7]

The protein NFKB2 can become mutated and lead to hereditary endocrine and immuneodeficiences.^[8] The mutation occurs at the C-terminus of NFKB2 and it causes common variable immunodeficienciency which in turn causes endocrine deficiency and immunodeficiencies.^[8] A NFKB2 mutation can cause things like adrenocorticotropic hormone deficiency and DAVID syndrome which is a pituitary hormone deficiency and CVID.^[8][9]

The mutations that occur within the C-terminus affect the serine 866 and 870.^[9] These serines are considered phosphorylation sites for NFKB2.^[9] These mutations at the serine's in the C-terminus lead to CVID in combination with other endocrine deficiencies. These endocrine deficiencies along with the mutation of NFKB2, lead scientists to believe that mutation of NFKB2 is a rare hereditary disease called DAVID's disease.^[8]

Interactions[edit]

NFKB2 has been shown to interact with:

See also[edit]

• NF-κB
• DAVID syndrome

References[edit]

Further reading[edit]

External links[edit]

• NFKB2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: Q00653 (Human Nuclear factor NF-kappa-B p100 subunit) at the PDBe-KB.
• Overview of all the structural information available in the PDB for UniProt: Q9WTK5 (Mouse Nuclear factor NF-kappa-B p100 subunit) at the PDBe-KB.

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