Aliases for RELB Gene

Aliases for RELB Gene

  • RELB Proto-Oncogene, NF-KB Subunit 2 3 5
  • V-Rel Avian Reticuloendotheliosis Viral Oncogene Homolog B (Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 3) 2 3
  • Transcription Factor RelB 3 4
  • REL-B 2 3
  • V-Rel Reticuloendotheliosis Viral Oncogene Homolog B, Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 3 3
  • I-REL 3
  • IMD53 3
  • I-Rel 4
  • IREL 3
  • RELB 5

External Ids for RELB Gene

Previous GeneCards Identifiers for RELB Gene

  • GC19P046149
  • GC19P045895
  • GC19P050180
  • GC19P050196
  • GC19P045504
  • GC19P041935

Summaries for RELB Gene

GeneCards Summary for RELB Gene

RELB (RELB Proto-Oncogene, NF-KB Subunit) is a Protein Coding gene. Diseases associated with RELB include Immunodeficiency 53 and Rheumatoid Arthritis. Among its related pathways are Immune response IL-23 signaling pathway and Toll-Like receptor Signaling Pathways. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is RELA.

UniProtKB/Swiss-Prot Summary for RELB Gene

  • 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 homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer in a CRY1/CRY2 independent manner. Increased repression of the heterodimer is seen in the presence of NFKB2/p52. Is required for both T and B lymphocyte maturation and function (PubMed:26385063).

Gene Wiki entry for RELB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RELB Gene

Genomics for RELB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RELB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J045000 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.3 307 2.5 BCLAF1 SP1 ZNF580 ZMYM3 ATF2 POLR2A BRCA1 CHD4 ZBTB10 REST RELB ZNF180 ZNF234 ZNF224 ZNF225 ZNF284 ZNF227 APOC2 CCDC61 CLASRP
GH19J044740 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.8 -251.7 -251679 18.9 BCLAF1 SP1 MYC NCOR1 IKZF1 ZNF600 JUND ZNF580 ZNF592 ZMYM3 BCL3 lnc-CEACAM20-2 ZNF45 ZNF224 ZNF155 ZNF180 ZNF284 CLASRP ZNF225 ZNF234
GH19J045439 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.3 +440.9 440879 6.7 BCLAF1 ZNF654 ZNF207 IKZF1 MYC NCOR1 ZNF580 ZNF592 ZMYM3 ATF2 ENSG00000268810 POLR1G RELB ZNF180 PPP1R13L ERCC1 PPM1N RTN2 CLASRP DMPK
GH19J045001 Enhancer 0.2 ENCODE 250.7 -1.1 -1091 0.2 RELB lnc-ZNF296-3 CLPTM1
GH19J044843 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -153.7 -153663 7.8 NCOR1 ZNF654 MYC IKZF1 ZNF600 ZNF580 ATF2 KLF9 ZNF223 ZNF10 NECTIN2 ZNF180 ZNF45 ZNF225 ZNF234 ZNF224 CLASRP ZNF284 FBXO46 ENSG00000269148
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RELB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RELB

Top Transcription factor binding sites by QIAGEN in the RELB gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GR
  • GR-alpha
  • GR-beta
  • STAT3

Genomic Locations for RELB Gene

Latest Assembly
chr19:45,001,449-45,038,198
(GRCh38/hg38)
Size:
36,750 bases
Orientation:
Plus strand

Previous Assembly
chr19:45,504,722-45,541,450
(GRCh37/hg19 by Entrez Gene)
Size:
36,729 bases
Orientation:
Plus strand

chr19:45,504,688-45,541,452
(GRCh37/hg19 by Ensembl)
Size:
36,765 bases
Orientation:
Plus strand

Genomic View for RELB Gene

Genes around RELB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RELB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RELB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RELB Gene

Proteins for RELB Gene

  • Protein details for RELB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01201-RELB_HUMAN
    Recommended name:
    Transcription factor RelB
    Protein Accession:
    Q01201
    Secondary Accessions:
    • Q6GTX7
    • Q9UEI7

    Protein attributes for RELB Gene

    Size:
    579 amino acids
    Molecular mass:
    62134 Da
    Quaternary structure:
    • Component of the NF-kappa-B RelB-p50 complex. Component of the NF-kappa-B RelB-p52 complex. Self-associates; the interaction seems to be transient and may prevent degradation allowing for heterodimer formation with p50 or p52. Interacts with NFKB1/p50, NFKB2/p52 and NFKB2/p100. Interacts with NFKBID. Interacts with ARNTL/BMAL1 and the interaction is enhanced in the presence of CLOCK (By similarity).

neXtProt entry for RELB Gene

Post-translational modifications for RELB Gene

  • Phosphorylation at 'Thr-103' and 'Ser-573' is followed by proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RELB Gene

Antibodies for research

  • Abcam antibodies for RELB

No data available for DME Specific Peptides for RELB Gene

Domains & Families for RELB Gene

Gene Families for RELB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for RELB Gene

InterPro:
Blocks:
  • Cell surface receptor IPT/TIG
  • NF-kappa-B/Rel/dorsal family
  • Rel homology

Suggested Antigen Peptide Sequences for RELB Gene

GenScript: Design optimal peptide antigens:
  • V-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (Avian) (D6R992_HUMAN)
  • I-Rel (RELB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01201

UniProtKB/Swiss-Prot:

RELB_HUMAN :
  • Both N- and C-terminal domains are required for transcriptional activation.
Domain:
  • Both N- and C-terminal domains are required for transcriptional activation.
genes like me logo Genes that share domains with RELB: view

Function for RELB Gene

Molecular function for RELB Gene

UniProtKB/Swiss-Prot 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 homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer in a CRY1/CRY2 independent manner. Increased repression of the heterodimer is seen in the presence of NFKB2/p52. Is required for both T and B lymphocyte maturation and function (PubMed:26385063).
UniProtKB/Swiss-Prot Induction:
Up-regulated by mitogens and NUPR1.

Phenotypes From GWAS Catalog for RELB Gene

Gene Ontology (GO) - Molecular Function for RELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005515 protein binding IPI 14743216
genes like me logo Genes that share ontologies with RELB: view
genes like me logo Genes that share phenotypes with RELB: view

Human Phenotype Ontology for RELB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RELB Gene

MGI Knock Outs for RELB:

miRNA for RELB Gene

miRTarBase miRNAs that target RELB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RELB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RELB Gene

Localization for RELB Gene

Subcellular locations from UniProtKB/Swiss-Prot for RELB Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with NEK6 in the centrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RELB gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
mitochondrion 3
plasma membrane 2
extracellular 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA,ISA --
GO:0005634 nucleus IDA 22065573
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 colocalizes_with centrosome IDA 20873783
genes like me logo Genes that share ontologies with RELB: view

Pathways & Interactions for RELB Gene

PathCards logo

SuperPathways for RELB Gene

SuperPathway Contained pathways
1 Toll-Like receptor Signaling Pathways
.42
.33
2 Immune response NFAT in immune response
.56
.56
.52
.52
3 CLEC7A (Dectin-1) signaling
4 CDK-mediated phosphorylation and removal of Cdc6
5 Bacterial infections in CF airways
.78
.78
.46
genes like me logo Genes that share pathways with RELB: view

Pathways by source for RELB Gene

47 GeneGo (Thomson Reuters) pathways for RELB Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival Lymphotoxin-beta receptor signaling
  • Apoptosis and survival TNFR1 signaling pathway
2 Qiagen pathways for RELB Gene
  • LT-BetaR Pathway
  • NF-KappaB Family Pathway
1 Cell Signaling Technology pathway for RELB Gene

SIGNOR curated interactions for RELB Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RELB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006954 inflammatory response IBA 21873635
GO:0007249 I-kappaB kinase/NF-kappaB signaling IBA 21873635
genes like me logo Genes that share ontologies with RELB: view

Drugs & Compounds for RELB Gene

(3) Drugs for RELB Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Triptolide Investigational Pharma IL-2/MMP-3/MMP7/MMP19 inhibitor 8
JSH-23 Pharma NF-κB inhibitor 0
QNZ (EVP4593) Pharma Potent NF-κB inhibitor 0

(3) ApexBio Compounds for RELB Gene

Compound Action Cas Number
JSH-23 NF-κB inhibitor 749886-87-1
QNZ (EVP4593) Potent NF-κB inhibitor 545380-34-5
Triptolide IL-2/MMP-3/MMP7/MMP19 inhibitor 38748-32-2
genes like me logo Genes that share compounds with RELB: view

Drug products for research

Transcripts for RELB Gene

mRNA/cDNA for RELB Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RELB

Alternative Splicing Database (ASD) splice patterns (SP) for RELB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2:
SP3:
SP4: - -

Relevant External Links for RELB Gene

GeneLoc Exon Structure for
RELB

Expression for RELB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RELB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

mRNA differential expression in normal tissues according to GTEx for RELB Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for RELB Gene

This gene is overexpressed in Heart (27.2), Blymphocyte (19.2), and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RELB Gene



Protein tissue co-expression partners for RELB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RELB

SOURCE GeneReport for Unigene cluster for RELB Gene:

Hs.654402

Evidence on tissue expression from TISSUES for RELB Gene

  • Blood(4.6)
  • Lymph node(2.9)
  • Spleen(2.9)
  • Bone marrow(2.8)
  • Intestine(2.6)
  • Liver(2.4)
  • Kidney(2.4)
  • Skin(2.3)
  • Lung(2.3)
  • Nervous system(2.3)
  • Heart(2.3)
  • Muscle(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with RELB: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RELB Gene

Orthologs for RELB Gene

This gene was present in the common ancestor of animals.

Orthologs for RELB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RELB 29 30
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RELB 29 30
  • 89.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RELB 29 30
  • 88.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Relb 29 16 30
  • 84.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Relb 29
  • 83.27 (n)
Oppossum
(Monodelphis domestica)
Mammalia RELB 30
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RELB 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia relb 29
  • 59.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia relb-A 29
Zebrafish
(Danio rerio)
Actinopterygii relb 30
  • 36 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta dl 30 31
  • 17 (a)
ManyToMany
Dif 30 31
  • 14 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
OneToOne
Species where no ortholog for RELB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RELB Gene

ENSEMBL:
Gene Tree for RELB (if available)
TreeFam:
Gene Tree for RELB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RELB: view image
Alliance of Genome Resources:
Additional Orthologs for RELB

Paralogs for RELB Gene

Paralogs for RELB Gene

(3) SIMAP similar genes for RELB Gene using alignment to 4 proteins:

  • RELB_HUMAN
  • D6R992_HUMAN
  • D6RIV7_HUMAN
  • K7ERX9_HUMAN
genes like me logo Genes that share paralogs with RELB: view

Variants for RELB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RELB Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1005629 Uncertain Significance: not provided 45,001,617(+) C/T
NM_006509.4(RELB):c.38C>T (p.Pro13Leu)
MISSENSE
1037749 Uncertain Significance: not provided 45,037,555(+) T/C
NM_006509.4(RELB):c.1505T>C (p.Leu502Pro)
MISSENSE
1038202 Uncertain Significance: not provided 45,037,531(+) C/T
NM_006509.4(RELB):c.1481C>T (p.Thr494Met)
MISSENSE
872128 Likely Pathogenic: not provided 45,022,211(+) G/T
NM_006509.4(RELB):c.662+1G>T
SPLICE_DONOR
973569 Likely Pathogenic: Immunodeficiency 53 45,028,920(+) C/T
NM_006509.4(RELB):c.919C>T (p.Arg307Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RELB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RELB Gene

Variant ID Type Subtype PubMed ID
nsv1071536 CNV deletion 25765185
nsv1116334 CNV deletion 24896259
nsv1121553 CNV deletion 24896259
nsv1127688 CNV deletion 24896259
nsv1151982 CNV deletion 26484159
nsv954658 CNV deletion 24416366

Variation tolerance for RELB Gene

Residual Variation Intolerance Score: 9.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RELB Gene

Human Gene Mutation Database (HGMD)
RELB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RELB
Leiden Open Variation Database (LOVD)
RELB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RELB Gene

Disorders for RELB Gene

MalaCards: The human disease database

(5) MalaCards diseases for RELB Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 53
  • imd53
rheumatoid arthritis
  • ra
skin disease
  • genodermatosis
prostate cancer
  • prostate cancer, somatic
lymphoma, mucosa-associated lymphoid type
  • malt lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search RELB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RELB_HUMAN
  • Immunodeficiency 53 (IMD53) [MIM:617585]: An autosomal recessive primary immunodeficiency apparent from early infancy and resulting in recurrent infections, severe autoimmune skin disease rheumatoid arthritis, and failure to thrive. Immunologic workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative response to multiple antigen, T-cell developmental and functional defects, and impaired ability to produce specific immunoglobulins. {ECO:0000269 PubMed:26385063}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for RELB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RELB: view

No data available for Genatlas for RELB Gene

Publications for RELB Gene

  1. The effects of RelB deficiency on lymphocyte development and function. (PMID: 26385063) Sharfe N … Roifman CM (Journal of autoimmunity 2015) 3 4 72
  2. Both N- and C-terminal domains of RelB are required for full transactivation: role of the N-terminal leucine zipper-like motif. (PMID: 8441398) Dobrzanski P … Bravo R (Molecular and cellular biology 1993) 3 4 22
  3. Activation of noncanonical NF-kappaB signaling by the oncoprotein Tio. (PMID: 20353939) de Jong SJ … Biesinger B (The Journal of biological chemistry 2010) 3 22
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut. (PMID: 20568250) Lee KM … Lan Q (American journal of hematology 2010) 3 40

Products for RELB Gene

  • Addgene plasmids for RELB

Sources for RELB Gene