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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5971
Gene name RELB proto-oncogene, NF-kB subunit
Gene symbol RELB
Synonyms (NCBI Gene)
I-RELIMD53IRELREL-B
Chromosome 19
Chromosome location 19q13.32
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs745463649 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
8
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT029940 hsa-miR-26b-5p Microarray 19088304
MIRT1300073 hsa-miR-3662 CLIP-seq
MIRT1300074 hsa-miR-4437 CLIP-seq
MIRT1300075 hsa-miR-4674 CLIP-seq
MIRT2314012 hsa-miR-1913 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ARNT Unknown 17900530
JUN Unknown 15596805
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (53)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 23729669
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 23729669
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604758 9956 ENSG00000104856
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors 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.
Q01201
Protein name Transcription factor RelB (I-Rel)
Protein function 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, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a ho
PDB 8G8R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16180 RelB_leu_zip 18 → 104 RelB leucine zipper Domain
PF00554 RHD_DNA_bind 127 → 295 Rel homology DNA-binding domain Domain
PF16179 RHD_dimer 304 → 401 Rel homology dimerisation domain Domain
PF16181 RelB_transactiv 403 → 579 RelB transactivation domain Domain
Sequence
Sequence length 579
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
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection 		  Dectin-1 mediated noncanonical NF-kB signaling
CD209 (DC-SIGN) signaling
NIK-->noncanonical NF-kB signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 53 Pathogenic; Likely pathogenic rs745463649, rs1971589003 RCV000495976
RCV001250212
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO RELB DEFICIENCY — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (90)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29983639, 30140390
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 27711077
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 30941572
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37386009 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 29777097, 30617256
★★★★★
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 38139378 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30949517
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 10765923, 15743469 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 31362988 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 36402602 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only