Gene Gene information from NCBI Gene database.
Entrez ID 5970
Gene name RELA proto-oncogene, NF-kB subunit
Gene symbol RELA
Synonyms (NCBI Gene)
AIF3BL3CMCUNFKB3p65
Chromosome 11
Chromosome location 11q13.1
Summary NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcripti
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1565191003 C>T Pathogenic Splice donor variant
rs1590931704 T>G Likely-pathogenic Splice acceptor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
151
miRTarBase ID miRNA Experiments Reference
MIRT002616 hsa-miR-124-3p Luciferase reporter assayMicroarray 15685193
MIRT002531 hsa-miR-373-3p Microarray 15685193
MIRT002531 hsa-miR-373-3p Microarray;Other 15685193
MIRT002616 hsa-miR-124-3p Microarray;Other 15685193
MIRT025722 hsa-miR-7-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
28
Transcription factor Regulation Reference
APEX1 Activation 17045925
AR Repression 18386814
ATF2 Activation 21350211
BCL3 Unknown 7896265
EP300 Unknown 21146504
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
210
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17350185
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IC 1406630
GO:0000785 Component Chromatin IDA 1406630, 8413223, 38114488
GO:0000785 Component Chromatin IDA 21343296, 26268439
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164014 9955 ENSG00000173039
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04206
Protein name Transcription factor p65 (Nuclear factor NF-kappa-B p65 subunit) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)
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 1NFI , 2LSP , 2O61 , 3GUT , 3QXY , 3RC0 , 4KV1 , 4KV4 , 5U4K , 5URN , 6NV2 , 6QHL , 6QHM , 6YOW , 6YOX , 6YOY , 6YP2 , 6YP3 , 6YP8 , 6YPL , 6YPY , 6YQ2 , 7BI3 , 7BIQ , 7BIW , 7BIY , 7BJB , 7BJF , 7BJL , 7BJW , 7BKH , 7LET , 7LEU , 7LF4 , 7NJ9 , 7NJB , 7NK3 , 7NK5 , 7NLA , 7NLE , 7NM1 , 7NM3 , 7NM9 , 7NMH , 7NQP , 7NR7 , 7NSV , 7NV4 , 7NVI , 7NWS , 7NXS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00554 RHD_DNA_bind 21 186 Rel homology DNA-binding domain Domain
PF16179 RHD_dimer 195 292 Rel homology dimerisation domain Domain
Sequence
MDELFPLIFPAEPAQASGPYVEIIEQPKQRGMRFRYKCEGRSAGSIPGERSTDTTKTHPT
IKINGYTGPGTVRISLVTKDPPHRPHPHELVGKDCRDGFYEAELCPDRCIHSFQNLGIQC
VKKRDLEQAISQRIQTNNNPFQVPIEEQRGDYDLNAVRLCFQVTVRDPSGRPLRLPPVLS
HPIFDN
RAPNTAELKICRVNRNSGSCLGGDEIFLLCDKVQKEDIEVYFTGPGWEARGSFS
QADVHRQVAIVFRTPPYADPSLQAPVRVSMQLRRPSDRELSEPMEFQYLPDT
DDRHRIEE
KRKRTYETFKSIMKKSPFSGPTDPRPPPRRIAVPSRSSASVPKPAPQPYPFTSSLSTINY
DEFPTMVFPSGQISQASALAPAPPQVLPQAPAPAPAPAMVSALAQAPAPVPVLAPGPPQA
VAPPAPKPTQAGEGTLSEALLQLQFDDEDLGALLGNSTDPAVFTDLASVDNSEFQQLLNQ
GIPVAPHTTEPMLMEYPEAITRLVTGAQRPPDPAPAPLGAPGLPNGLLSGDEDFSSIADM
DFSALLSQISS
Sequence length 551
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
HIF-1 signaling pathway
Sphingolipid signaling pathway
Mitophagy - animal
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Cellular senescence
Osteoclast differentiation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Prolactin signaling pathway
Adipocytokine signaling pathway
Relaxin signaling pathway
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Alcoholic liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Legionellosis
Yersinia infection
Leishmaniasis
Chagas disease
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Regulated proteolysis of p75NTR
Downstream TCR signaling
NF-kB is activated and signals survival
Senescence-Associated Secretory Phenotype (SASP)
FCERI mediated NF-kB activation
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
CLEC7A (Dectin-1) signaling
CD209 (DC-SIGN) signaling
CLEC7A/inflammasome pathway
The NLRP3 inflammasome
Transcriptional Regulation by VENTX
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
Purinergic signaling in leishmaniasis infection
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
53
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Childhood-onset schizophrenia Likely pathogenic rs863223356 RCV000202330
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucocutaneous ulceration Likely pathogenic rs1590931704 RCV000853280
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucocutaneous ulceration, chronic Pathogenic; Likely pathogenic rs2496824516, rs2496833014, rs2496827835, rs749716796, rs1565191003, rs1326268854 RCV003159249
RCV003159250
RCV003494566
RCV003994785
RCV000754619
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RELA-related disorder Likely pathogenic; Pathogenic rs2496867941, rs1856484601 RCV003894623
RCV003396687
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 23667654, 26378023
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12458326
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 21901538
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 27959400, 30570131, 31671079
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 12214859, 28317833
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 24054986
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15256061, 17493236
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15484295, 17078054, 17493236, 26990751, 9918209
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31693889
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25499851, 25820700, 29207489
★☆☆☆☆
Found in Text Mining only