NFKB2 (nuclear factor kappa B subunit 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4791
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear factor kappa B subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFKB2
Synonyms (NCBI Gene) Gene synonyms aliases
CVID10, H2TF1, LYT-10, LYT10, NF-kB2, p100, p49/p100, p52
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.32
Summary Summary of gene provided in NCBI Entrez 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 enc
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs748910652 C>T Pathogenic Coding sequence variant, stop gained
rs1565207233 C>T Likely-pathogenic 5 prime UTR variant, stop gained, coding sequence variant
rs1589866171 G>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
miRTarBase ID miRNA Experiments Reference
MIRT016350 hsa-miR-193b-3p Microarray 20304954
MIRT027644 hsa-miR-98-5p Microarray 19088304
MIRT038120 hsa-miR-423-5p CLASH 23622248
MIRT1183464 hsa-miR-203 CLIP-seq
MIRT1183465 hsa-miR-3144-5p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
AIP Repression 21984905
JUN Unknown 7541912
SP1 Unknown 7541912
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12835724
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164012 7795 ENSG00000077150
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q00653
Protein 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
Protein 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 inflammati
PDB 1A3Q , 2D96 , 3DO7 , 4OT9 , 5ZMC , 7CLI , 7VUP , 7VUQ , 7W7L , 8G8Q , 8G8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00554 RHD_DNA_bind 40 → 220 Rel homology DNA-binding domain Domain
PF16179 RHD_dimer 229 → 329 Rel homology dimerisation domain Domain
PF00023 Ank 527 → 558 Ankyrin repeat Repeat
PF00023 Ank 667 → 699 Ankyrin repeat Repeat
PF00531 Death 775 → 850 Death domain Domain
Sequence 
MESCYNPGLDGIIEYDDFKLNSSIVEPKEPAPETADGPYLVIVEQPKQRGFRFRYGCEGP
SHGGLPGASSEKGRKTYPTVKICNYEGPAKIEVDLVTHSDPPRAHAHSLVGKQCSELGIC
AVSVGPKDMTAQFNNLGVLHVTKKNMMGTMIQKLQRQRLRSRPQGLTEAEQRELEQEAKE
LKKVMDLSIVRLRFSAFLRASDGSFSLPLKPVISQPIHDSKSPGASNLKISRMDKTAGSV
RGGDEVYLLCDKVQKDDIEVRFYEDDENGWQAFGDFSPTDVHKQYAIVFRTPPYHKMKIE
RPVTVFLQLKRKRGGDVSDSKQFTYYPLVEDKEEVQRKRRKALPTFSQPFGGGSHMGGGS
GGAAGGYGGAGGGGSLGFFPSSLAYSPYQSGAGPMGCYPGGGGGAQMAATVPSRDSGEEA
AEPSAPSRTPQCEPQAPEMLQRAREYNARLFGLAQRSARALLDYGVTADARALLAGQRHL
LTAQDENGDTPLHLAIIHGQTSVIEQIVYVIHHAQDLGVVNLTNHLHQTPLHLAVITGQT
SVVSFLLRVGADPALLDRHGDSAMHLALRAGAGAPELLRALLQSGAPAVPQLLHMPDFEG
LYPVHLAVRARSPECLDLLVDSGAEVEATERQGGRTALHLATEMEELGLVTHLVTKLRAN
VNARTFAGNTPLHLAAGLGYPTLTRLLLKAGADIHAENEEPLCPLPSPPTSDSDSDSEGP
EKDTRSSFRGHTPLDLTCSTKVKTLLLNAAQNTMEPPLTPPSPAGPGLSLGDTALQNLEQ
LLDGPEAQGSWAELAERLGLRSLVDTYRQTTSPSGSLLRSYELAGGDLAGLLEALSDMGL
EEGVRLLRGPETRDKLPSTAEVKEDSAYGSQSVEQEAEKLGPPPEPPGGLCHGHPQPQVH
Sequence length 900
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  MAPK signaling pathway
NF-kappa B signaling pathway
Osteoclast differentiation
C-type lectin receptor signaling pathway
Legionellosis
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
Breast cancer 		  RIP-mediated NFkB activation via ZBP1
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
PKMTs methylate histone lysines
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Interleukin-1 processing
SUMOylation of immune response proteins
IkBA variant leads to EDA-ID
Dectin-1 mediated noncanonical NF-kB signaling
NIK-->noncanonical NF-kB signaling
The NLRP3 inflammasome
TRAF6 mediated NF-kB activation
Purinergic signaling in leishmaniasis infection
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Common variable immunodeficiency immunodeficiency, common variable, 10 rs397514331, rs727502786, rs727502787, rs1565214594, rs2061279365 N/A
Common Variable Immunodeficiency immunodeficiency, common variable, 1 rs397514331 N/A
Immunodeficiency Inherited Immunodeficiency Diseases rs748910652, rs1589866171 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
DAVID Syndrome deficiency in anterior pituitary function - variable immunodeficiency syndrome N/A N/A GenCC
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (111)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 39447838
ACTH Deficiency Isolated Associate 30941118
Adenocarcinoma Associate 19502791
Adrenal Insufficiency Associate 30953794
Adrenocorticotropic hormone deficiency Associate 28472507, 28778864
Agammaglobulinemia Associate 32813180, 39447838
Alopecia Associate 25237204, 30941118
Alzheimer Disease Associate 38340719
Anxiety Associate 25249351
Arthritis Associate 30941118