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

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Gene Gene information from NCBI Gene database.
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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.
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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 Show/Hide all (8)
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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
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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 Show/Hide all (53)
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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.
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MIM HGNC e!Ensembl
604758 9956 ENSG00000104856
Protein Protein information from UniProt database.
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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
PF00554 RHD_DNA_bind 127 → 295 Rel homology DNA-binding domain Domain
PF16179 RHD_dimer 304 → 401 Rel homology dimerisation domain Domain
PF16180 RelB_leu_zip 18 → 104 RelB leucine zipper Domain
PF16181 RelB_transactiv 403 → 579 RelB transactivation domain Domain
Sequence 
MLRSGPASGPSVPTGRAMPSRRVARPPAAPELGALGSPDLSSLSLAVSRSTDELEIIDEY
IKENGFGLDGGQPGPGEGLPRLVSRGAASLSTVTLGPVAPPATPPPWGCPLGRLVSPAPG
PGPQPHLVITEQPKQRGMRFRYECEGRSAGSILGESSTEASKTLPAIELRDCGGLREVEV
TACLVWKDWPHRVHPHSLVGKDCTDGICRVRLRPHVSPRHSFNNLGIQCVRKKEIEAAIE
RKIQLGIDPYNAGSLKNHQEVDMNVVRICFQASYRDQQGQMRRMDPVLSEPVYDKKSTNT
SELRICRINKESGPCTGGEELYLLCDKVQKEDISVVFSRASWEGRADFSQADVHRQIAIV
FKTPPYEDLEIVEPVTVNVFLQRLTDGVCSEPLPFTYLPRDHDSYGVDKKRKRGMPDVLG
ELNSSDPHGIESKRRKKKPAILDHFLPNHGSGPFLPPSALLPDPDFFSGTVSLPGLEPPG
GPDLLDDGFAYDPTAPTLFTMLDLLPPAPPHASAVVCSGGAGAVVGETPGPEPLTLDSYQ
APGPGDGGTASLVGSNMFPNHYREAAFGGGLLSPGPEAT
Sequence length 579
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
MAPK signaling pathway Dectin-1 mediated noncanonical NF-kB signaling
NF-kappa B signaling pathway CD209 (DC-SIGN) signaling
Osteoclast differentiation NIK-->noncanonical NF-kB signaling
C-type lectin receptor signaling pathway  
Human T-cell leukemia virus 1 infection  
Epstein-Barr virus infection  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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
Immunodeficiency 53 Pathogenic; Likely pathogenic rs745463649, rs1971589003 RCV000495976
RCV001250212
★★★★★
★★★★☆
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.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 30617256, 33589840, 35589863, 35851147, 39537608, 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY — GWAS catalog 34020725
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO RELB DEFICIENCY — Orphanet 39231201
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA — GWAS catalog 34906840
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE — GWAS catalog 35851147
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (90)
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
Sort by:
CTNNBL1 2 shared diseasesGastroesophageal reflux disease, Immunodeficiency 5 shared evidence sourcesGWAS catalog (Gastroesophageal reflux disease), HPO (Immunodeficiency), Disgenet (Immunodeficiency), ClinVar (Immunodeficiency), GWAS catalog (Immunodeficiency) Related via 2 shared diseases including Gastroesophageal reflux disease, Immunodeficiency — evidence mostly GWAS catalog. FCHO1 2 shared diseasesCombined immunodeficiency disease, Immunodeficiency 5 shared evidence sourcesOrphanet (Combined immunodeficiency disease), HPO (Immunodeficiency), Disgenet (Immunodeficiency), ClinVar (Immunodeficiency), ClinGen (Immunodeficiency) Related via 2 shared diseases including Combined immunodeficiency disease, Immunodeficiency — evidence mostly Orphanet. POLR1G 2 shared diseasesHyperlipidemia, Gastroesophageal reflux disease 2 shared evidence sourcesGWAS catalog (Hyperlipidemia), GWAS catalog (Gastroesophageal reflux disease) Related via 2 shared diseases including Hyperlipidemia, Gastroesophageal reflux disease — evidence mostly GWAS catalog. LCK 2 shared diseasesCombined immunodeficiency disease, Immunodeficiency 3 shared pathwaysNF-kappa B signaling pathway, Osteoclast differentiation, Human T-cell leukemia virus 1 infection 3 shared evidence sourcesOrphanet (Combined immunodeficiency disease), HPO (Immunodeficiency), Disgenet (Immunodeficiency) Related via 3 shared pathways including NF-kappa B signaling pathway, Osteoclast differentiation — evidence mostly Orphanet. ICOSLG 2 shared diseasesCombined immunodeficiency disease, Immunodeficiency 3 shared evidence sourcesHPO (Immunodeficiency), Disgenet (Immunodeficiency), ClinVar (Immunodeficiency) Related via 2 shared diseases including Combined immunodeficiency disease, Immunodeficiency — evidence mostly HPO.
Breast cancer Linked via 1 of 5 related genesCTNNBL1 Common variable immunodeficiency Linked via 1 of 5 related genesCTNNBL1 Obesity Linked via 1 of 5 related genesCTNNBL1 Color vision deficiency Linked via 1 of 5 related genesFCHO1 Coronary artery disease Linked via 1 of 5 related genesFCHO1