Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5970
Gene name Gene Name - the full gene name approved by the HGNC.
RELA proto-oncogene, NF-kB subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RELA
Synonyms (NCBI Gene) Gene synonyms aliases
AIF3BL3, CMCU, NFKB3, p65
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT002616 hsa-miR-124-3p Luciferase reporter assay, Microarray 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 factor Regulation Reference
APEX1 Activation 17045925
AR Repression 18386814
ATF2 Activation 21350211
BCL3 Unknown 7896265
EP300 Unknown 21146504
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17350185
GO:0000785 Component Chromatin IDA 21343296, 26268439
GO:0000785 Component Chromatin IGI 23729669
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 17350185
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164014 9955 ENSG00000173039
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Severe combined immunodeficiency disease combined immunodeficiency due to RELA haploinsufficiency GenCC
Hereditary Pediatric Behcet-Like Disease hereditary pediatric Behçet-like disease GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Associate 25504433
Acute Disease Associate 19079204
Acute Kidney Injury Stimulate 24607031
Acute Lung Injury Associate 31054328, 35269738
Adenocarcinoma Associate 15256061
Adenocarcinoma Stimulate 22384099
Adenocarcinoma of Lung Associate 25820700, 32873769, 35379924
Alcoholic Intoxication Inhibit 17895971
Alcoholism Associate 17895971
Alcoholism Stimulate 36577732