REL (REL proto-oncogene, NF-kB subunit)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5966
Gene name REL proto-oncogene, NF-kB subunit
Gene symbol REL
Synonyms (NCBI Gene)
C-RelHIVEN86AIMD92
Chromosome 2
Chromosome location 2p16.1
Summary This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic proc
miRNA miRNA information provided by mirtarbase database.
866
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (866)
miRTarBase ID miRNA Experiments Reference
MIRT027520 hsa-miR-98-5p Microarray 19088304
MIRT700231 hsa-miR-4802-3p HITS-CLIP 23313552
MIRT700230 hsa-miR-371b-3p HITS-CLIP 23313552
MIRT700229 hsa-miR-3688-3p HITS-CLIP 23313552
MIRT700228 hsa-miR-4716-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (34)
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 1406630
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164910 9954 ENSG00000162924
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04864
Protein name Proto-oncogene c-Rel
Protein function Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, dif
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00554 RHD_DNA_bind 10 → 178 Rel homology DNA-binding domain Domain
PF16179 RHD_dimer 187 → 283 Rel homology dimerisation domain Domain
Sequence 
MASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGK
VRITLVTKNDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAII
TRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPDEHGNLTTALPPVVSNPIYDNRA
PNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQV
AIVFKTPPYCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKDTYGNKAKKQKTTLLF
QKLCQDHVETGFRHVDQDGLELLTSGDPPTLASQSAGITVNFPERPRPGLLGSIGEGRYF
KKEPNLFSHDAVVREMPTGVSSQAESYYPSPGPISSGLSHHASMAPLPSSSWSSVAHPTP
RSGNTNPLSSFSTRTLPSNSQGIPPFLRIPVGNDLNASNACIYNNADDIVGMEASSMPSA
DLYGISDPNMLSNCSVNMMTTSSDSMGETDNPRLLSMNLENPSCNSVLDPRDLRQLHQMS
SSSMSAGANSNTTVFVSQSDAFEGSDFSCADNSMINESGPSNSTNPNSHGFVQDSQYSGI
GSMQNEQLSDSFPYEFFQV
Sequence length 619
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Ras signaling pathway
Transcriptional misregulation in cancer
Viral carcinogenesis 		  Activation of NF-kappaB in B cells
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 92 Pathogenic rs2103978347, rs2103978009 RCV001794567
RCV001794568
Show/Hide Unknown Diseases (17)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs142878172 RCV005913629
Cervical cancer Conflicting classifications of pathogenicity rs142878172 RCV005913631
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs200491634 RCV005928447
Familial cancer of breast Likely benign; Conflicting classifications of pathogenicity rs564943720, rs747338190, rs142878172 RCV005928461
RCV005928673
RCV005913628
Show/Hide Text Mining Associations (57)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Psoriatic Associate 22328738
Arthritis Rheumatoid Associate 19503088, 24489016
Atherosclerosis Associate 15064395
Autoimmune Diseases Associate 36520934
Behcet Syndrome Associate 26784953
Breast Neoplasms Associate 29716623
Carcinogenesis Associate 23892589, 35887223
Carcinoma Ovarian Epithelial Associate 28206956
Carcinoma Pancreatic Ductal Associate 25299780
Carcinoma Squamous Cell Associate 23892589