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Aliases for RELA Gene

Aliases for RELA Gene

  • RELA Proto-Oncogene, NF-KB Subunit 2
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 3 2 3 4
  • V-Rel Avian Reticuloendotheliosis Viral Oncogene Homolog A 2 3 5
  • Nuclear Factor NF-Kappa-B P65 Subunit 3 4
  • NFKB3 3 4
  • V-Rel Reticuloendotheliosis Viral Oncogene Homolog A 3
  • NF-Kappa-B Transcription Factor P65 3
  • NF-Kappa-B P65delta3 3
  • P65 3

External Ids for RELA Gene

Previous HGNC Symbols for RELA Gene

  • NFKB3

Previous GeneCards Identifiers for RELA Gene

  • GC11M067936
  • GC11M067102
  • GC11M065196
  • GC11M065172
  • GC11M065178
  • GC11M065421
  • GC11M061748

Summaries for RELA Gene

Entrez Gene Summary for RELA 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 transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for RELA Gene

RELA (RELA Proto-Oncogene, NF-KB Subunit) is a Protein Coding gene. Diseases associated with RELA include Ependymoma and Hiv-1. Among its related pathways are RANK Signaling in Osteoclasts and Development VEGF signaling via VEGFR2 - generic cascades. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and identical protein binding. An important paralog of this gene is NFKB1.

UniProtKB/Swiss-Prot for RELA Gene

  • 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 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 and the heterodimeric p65-p50 complex appears to be most abundant one. 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 p65-p50 and p65-c-Rel complexes are transcriptional activators. The NF-kappa-B p65-p65 complex appears to be involved in invasin-mediated activation of IL-8 expression. The inhibitory effect of I-kappa-B upon NF-kappa-B the cytoplasm is exerted primarily through the interaction with p65. p65 shows a weak DNA-binding site which could contribute directly to DNA binding in the NF-kappa-B complex. Associates with chromatin at the NF-kappa-B promoter region via association with DDX1. Essential for cytokine gene expression in T-cells (PubMed:15790681).

Gene Wiki entry for RELA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RELA Gene

Genomics for RELA Gene

Regulatory Elements for RELA Gene

Enhancers for RELA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RELA on UCSC Golden Path with GeneCards custom track

Promoters for RELA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RELA on UCSC Golden Path with GeneCards custom track

Genomic Location for RELA Gene

Chromosome:
11
Start:
65,653,596 bp from pter
End:
65,663,094 bp from pter
Size:
9,499 bases
Orientation:
Minus strand

Genomic View for RELA Gene

Genes around RELA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RELA Gene

Proteins for RELA Gene

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

    Protein Symbol:
    Q04206-TF65_HUMAN
    Recommended name:
    Transcription factor p65
    Protein Accession:
    Q04206
    Secondary Accessions:
    • Q6GTV1
    • Q6SLK1

    Protein attributes for RELA Gene

    Size:
    551 amino acids
    Molecular mass:
    60219 Da
    Quaternary structure:
    • Component of the NF-kappa-B p65-p50 complex. Component of the NF-kappa-B p65-c-Rel complex. Homodimer; component of the NF-kappa-B p65-p65 complex. Component of the NF-kappa-B p65-p52 complex. May interact with ETHE1. Binds AES and TLE1. Interacts with TP53BP2. Binds to and is phosphorylated by the activated form of either RPS6KA4 or RPS6KA5. Interacts with ING4 and this interaction may be indirect. Interacts with CARM1, USP48 and UNC5CL. Interacts with IRAK1BP1 (By similarity). Interacts with NFKBID (By similarity). Interacts with NFKBIA. Interacts with GSK3B. Interacts with NFKBIB (By similarity). Interacts with NFKBIE. Interacts with NFKBIZ. Interacts with EHMT1 (via ANK repeats) (By similarity). Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, IKBKAP and MAP3K14. Interacts with HDAC3; HDAC3 mediates the deacetylation of RELA. Interacts with HDAC1; the interaction requires non-phosphorylated RELA. Interacts with CBP; the interaction requires phosphorylated RELA. Interacts (phosphorylated at Thr-254) with PIN1; the interaction inhibits p65 binding to NFKBIA. Interacts with SOCS1. Interacts with UXT. Interacts with MTDH and PHF11. Interacts with ARRB2. Interacts with human respiratory syncytial virus (HRSV) protein M2-1. Interacts with NFKBIA (when phosphorylated), the interaction is direct; phosphorylated NFKBIA is part of a SCF(BTRC)-like complex lacking CUL1. Interacts with RNF25. Interacts (via C-terminus) with DDX1. Interacts with UFL1 and COMMD1. Interacts with BRMS1; this promotes deacetylation of Lys-310. Interacts with NOTCH2 (By similarity). Directly interacts with MEN1; this interaction represses NFKB-mediated transactivation. Interacts with AKIP1, which promotes the phosphorylation and nuclear retention of RELA. Interacts (via the RHD) with GFI1; the interaction, after bacterial lipopolysaccharide (LPS) stimulation, inhibits the transcriptional activity by interfering with the DNA-binding activity to target gene promoter DNA. Interacts (when acetylated at Lys-310) with BRD4; leading to activation of the NF-kappa-B pathway. Interacts with MEFV. Interacts with CLOCK (By similarity). Interacts (via N-terminus) with CPEN1; this interaction induces proteolytic cleavage of p65/RELA subunit and inhibition of NF-kappa-B transcriptional activity (PubMed:18212740). Interacts with FOXP3. Interacts with CDK5RAP3; stimulates the interaction of RELA with HDAC1, HDAC2 and HDAC3 thereby inhibiting NF-kappa-B transcriptional activity (PubMed:17785205).

    Three dimensional structures from OCA and Proteopedia for RELA Gene

    Alternative splice isoforms for RELA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RELA Gene

Proteomics data for RELA Gene at MOPED

Post-translational modifications for RELA Gene

  • Monomethylated at Lys-310 by SETD6. Monomethylation at Lys-310 is recognized by the ANK repeats of EHMT1 and promotes the formation of repressed chromatin at target genes, leading to down-regulation of NF-kappa-B transcription factor activity. Phosphorylation at Ser-311 disrupts the interaction with EHMT1 without preventing monomethylation at Lys-310 and relieves the repression of target genes (By similarity).
  • Phosphorylation at Ser-311 disrupts the interaction with EHMT1 and promotes transcription factor activity (By similarity). Phosphorylation on Ser-536 stimulates acetylation on Lys-310 and interaction with CBP; the phosphorylated and acetylated forms show enhanced transcriptional activity. Phosphorylation at Ser-276 by RPS6KA4 and RPS6KA5 promotes its transactivation and transcriptional activities.
  • Proteolytically cleaved within a conserved N-terminus region required for base-specific contact with DNA in a CPEN1-mediated manner, and hence inhibits NF-kappa-B transcriptional activity (PubMed:18212740).
  • Reversibly acetylated; the acetylation seems to be mediated by CBP, the deacetylation by HDAC3 and SIRT2. Acetylation at Lys-122 enhances DNA binding and impairs association with NFKBIA. Acetylation at Lys-310 is required for full transcriptional activity in the absence of effects on DNA binding and NFKBIA association. Acetylation at Lys-310 promotes interaction with BRD4. Acetylation can also lower DNA-binding and results in nuclear export. Interaction with BRMS1 promotes deacetylation of Lys-310. Lys-310 is deacetylated by SIRT2.
  • S-nitrosylation of Cys-38 inactivates the enzyme activity.
  • Sulfhydration at Cys-38 mediates the anti-apoptotic activity by promoting the interaction with RPS3 and activating the transcription factor activity.
  • Sumoylation by PIAS3 negatively regulates DNA-bound activated NF-kappa-B.
  • Ubiquitinated, leading to its proteasomal degradation. Degradation is required for termination of NF-kappa-B response.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RELA (NFkB-p65)

Assay Products

  • Enzo Life Sciences assays for RELA
  • Cloud-Clone Corp Assay Kits for RELA

No data available for DME Specific Peptides for RELA Gene

Domains & Families for RELA Gene

Gene Families for RELA Gene

Graphical View of Domain Structure for InterPro Entry

Q04206

UniProtKB/Swiss-Prot:

TF65_HUMAN :
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Domain:
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
  • Contains 1 RHD (Rel-like) domain.
genes like me logo Genes that share domains with RELA: view

Function for RELA Gene

Molecular function for RELA Gene

GENATLAS Biochemistry:
nuclear transcription factor of kappa light chain enhancer in B cells,3 (p65),NF-kappa B/REL family
UniProtKB/Swiss-Prot 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 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 and the heterodimeric p65-p50 complex appears to be most abundant one. 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 p65-p50 and p65-c-Rel complexes are transcriptional activators. The NF-kappa-B p65-p65 complex appears to be involved in invasin-mediated activation of IL-8 expression. The inhibitory effect of I-kappa-B upon NF-kappa-B the cytoplasm is exerted primarily through the interaction with p65. p65 shows a weak DNA-binding site which could contribute directly to DNA binding in the NF-kappa-B complex. Associates with chromatin at the NF-kappa-B promoter region via association with DDX1. Essential for cytokine gene expression in T-cells (PubMed:15790681).

Gene Ontology (GO) - Molecular Function for RELA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 17350185
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 17350185
GO:0033613 activating transcription factor binding IPI 15489227
GO:0042826 histone deacetylase binding IPI 17785205
GO:0044212 transcription regulatory region DNA binding IDA 17350185
genes like me logo Genes that share ontologies with RELA: view
genes like me logo Genes that share phenotypes with RELA: view

Animal Models for RELA Gene

MGI Knock Outs for RELA:

Animal Model Products

Transcription Factor Targets for RELA Gene

Selected GeneGlobe predicted Target genes for RELA
Targeted motifs for RELA Gene
HOMER Transcription Factor Regulatory Elements motif RELA
  • Consensus sequence: AGGGGATTTCCC Submotif: canonical Cell Type: GM12787 GEO ID: GSE19485

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for RELA Gene

Localization for RELA Gene

Subcellular locations from UniProtKB/Swiss-Prot for RELA Gene

Nucleus. Cytoplasm. Note=Colocalized with DDX1 in the nucleus upon TNF-alpha induction (By similarity). Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B). Colocalizes with GFI1 in the nucleus after LPS stimulation. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RELA Gene COMPARTMENTS Subcellular localization image for RELA gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RELA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RELA: view

Pathways & Interactions for RELA Gene

SuperPathways for RELA Gene

Superpath Contained pathways
1 MyD88 cascade initiated on plasma membrane
2 Cytosolic sensors of pathogen-associated DNA
3 Toll-Like receptor Signaling Pathways
4 Toll-like receptor signaling pathway
5 Immune response IL-23 signaling pathway
genes like me logo Genes that share pathways with RELA: view

Pathways by source for RELA Gene

Gene Ontology (GO) - Biological Process for RELA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 17350185
GO:0001889 liver development IEA --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with RELA: view

Drugs & Compounds for RELA Gene

(13) Drugs for RELA Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Kaempferol Experimental Pharma Apoptosis inducer;antioxidant;flavonoid, Proapoptotic; downregulates PLK1 expression and activates mitochondrial Ca2+ uniporter 0
2-(4-((2-(4-(Trifluoromethyl)phenyl)-5-methylthiazol-4-yl)methylthio)-2- methylphenoxy)acetic acid Pharma 0
JSH-23 Pharma NF-κB inhibitor 0
Matrine Pharma Alkaloid found in Sophora plant 0
QNZ (EVP4593) Pharma Potent NF-κB inhibitor 0

(2) Additional Compounds for RELA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(6) ApexBio Compounds for RELA Gene

Compound Action Cas Number
2-(4-((2-(4-(Trifluoromethyl)phenyl)-5-methylthiazol-4-yl)methylthio)-2- methylphenoxy)acetic acid 317318-70-0
JSH-23 NF-κB inhibitor 749886-87-1
Kaempferol Apoptosis inducer;antioxidant;flavonoid 520-18-3
Matrine Alkaloid found in Sophora plant 519-02-8
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 RELA: view

Transcripts for RELA Gene

Unigene Clusters for RELA Gene

V-rel reticuloendotheliosis viral oncogene homolog A (avian):
Representative Sequences:

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

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^
SP1: - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - - - -
SP5: - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - - -
SP10: - - - - - - - -
SP11: - - - - -
SP12: - - -
SP13: -
SP14:

ExUns: 12
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for RELA Gene

GeneLoc Exon Structure for
RELA
ECgene alternative splicing isoforms for
RELA

Expression for RELA Gene

mRNA expression in normal human tissues for RELA Gene

Protein differential expression in normal tissues from HIPED for RELA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1) and Nasal epithelium (9.2).

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



SOURCE GeneReport for Unigene cluster for RELA Gene Hs.502875

genes like me logo Genes that share expression patterns with RELA: view

Protein tissue co-expression partners for RELA Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RELA Gene

Orthologs for RELA Gene

This gene was present in the common ancestor of animals.

Orthologs for RELA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RELA 35
  • 90.52 (n)
  • 92.11 (a)
RELA 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RELA 35
  • 89.28 (n)
  • 90.76 (a)
RELA 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rela 35
  • 87.02 (n)
  • 89.21 (a)
Rela 16
Rela 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RELA 35
  • 99.82 (n)
  • 99.82 (a)
RELA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rela 35
  • 87.71 (n)
  • 90.88 (a)
oppossum
(Monodelphis domestica)
Mammalia RELA 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RELA 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves RELA 35
  • 65.45 (n)
  • 64.81 (a)
lizard
(Anolis carolinensis)
Reptilia RELA 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rela 35
  • 59.25 (n)
  • 59.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia rela-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii rela 35
  • 69.01 (n)
  • 71.24 (a)
rela 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dif 37
  • 37 (a)
dl 37
  • 42 (a)
Dif 36
  • 15 (a)
ManyToMany
dl 36
  • 17 (a)
ManyToMany
Species with no ortholog for RELA:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 RELA Gene

ENSEMBL:
Gene Tree for RELA (if available)
TreeFam:
Gene Tree for RELA (if available)

Paralogs for RELA Gene

Paralogs for RELA Gene

Pseudogenes.org Pseudogenes for RELA Gene

genes like me logo Genes that share paralogs with RELA: view

Variants for RELA Gene

Sequence variations from dbSNP and Humsavar for RELA Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs732072 -- 65,660,097(-) ACACC(C/T)GCACC intron-variant
rs1049642 -- 65,654,152(-) GGAGC(A/T)GGGGA utr-variant-3-prime
rs1049728 -- 65,653,646(+) TTGGA(C/G)TCTTG utr-variant-3-prime
rs1108922 -- 65,656,459(+) GACAA(C/T)CTCAT intron-variant
rs1144792 -- 65,655,611(+) GCCCA(A/G)GAGTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1175n71 CNV Loss 21882294
nsv897718 CNV Loss 21882294
nsv897720 CNV Loss 21882294
dgv1176n71 CNV Loss 21882294
nsv897723 CNV Loss 21882294
dgv1179n71 CNV Loss 21882294
dgv1180n71 CNV Loss 21882294
nsv897736 CNV Loss 21882294
nsv897748 CNV Loss 21882294
dgv1183n71 CNV Loss 21882294
dgv1184n71 CNV Loss 21882294
nsv897754 CNV Loss 21882294
nsv897755 CNV Gain 21882294

Variation tolerance for RELA Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.16% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RELA Gene

Disorders for RELA Gene

MalaCards: The human disease database

(7) MalaCards diseases for RELA Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ependymoma
  • cellular ependymoma
hiv-1
  • aids, slow progression to
dysferlinopathy
head and neck carcinoma
  • carcinoma of neck
lung cancer
  • lung cancer, protection against
- elite association - COSMIC cancer census association via MalaCards
Search RELA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TF65_HUMAN
  • Note=A chromosomal aberration involving C11orf95 is found in more than two-thirds of supratentorial ependymomas. Translocation with C11orf95 produces a C11orf95-RELA fusion protein. C11orf95-RELA translocations are potent oncogenes that probably transform neural stem cells by driving an aberrant NF-kappa-B transcription program (PubMed:24553141). {ECO:0000269 PubMed:24553141}.

Relevant External Links for RELA

Genetic Association Database (GAD)
RELA
Human Genome Epidemiology (HuGE) Navigator
RELA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RELA
genes like me logo Genes that share disorders with RELA: view

No data available for Genatlas for RELA Gene

Publications for RELA Gene

  1. The DEAD-box RNA helicase DDX1 interacts with RelA and enhances nuclear factor kappaB-mediated transcription. (PMID: 19058135) Ishaq M. … Guo D. (J. Cell. Biochem. 2009) 3 4 23 67
  2. Proinflammatory phenotype with imbalance of KLF2 and RelA: risk of childhood stroke with sickle cell anemia. (PMID: 19957349) Enenstein J. … Hebbel R.P. (Am. J. Hematol. 2010) 3 23
  3. IL-23 promotes growth and proliferation in human squamous cell carcinoma of the oral cavity. (PMID: 20428758) Fukuda M. … Sakashita H. (Int. J. Oncol. 2010) 3 23
  4. Pseudomonas aeruginosa induces interleukin-8 (IL-8) gene expression in human conjunctiva through the recruitment of both RelA and CCAAT/enhancer-binding protein beta to the IL-8 promoter. (PMID: 19064995) Venza I. … Teti D. (J. Biol. Chem. 2009) 3 23
  5. Negative regulation of NF-kappaB action by Set9-mediated lysine methylation of the RelA subunit. (PMID: 19262565) Yang X.D. … Chen L.F. (EMBO J. 2009) 3 23

Products for RELA Gene

  • Addgene plasmids for RELA

Sources for RELA Gene

Content