| Name |
|---|
RELB Genev-rel avian reticuloendotheliosis viral oncogene homolog B Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and protein kinase binding activity. Involved in lymphocyte differentiation and negative regulation of interferon-beta production. Located in several cellular components, including centrosome; chromatin; and nucleoplasm. Part of nucleus and transcription repressor complex. Implicated in breast cancer and immunodeficiency 53. Biomarker of breast cancer and transitional cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
RELA Genev-rel avian reticuloendotheliosis viral oncogene homolog A 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] |
REL Genev-rel avian reticuloendotheliosis viral oncogene homolog 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 processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] |
LOC100422456 Genev-rel avian reticuloendotheliosis viral oncogene homolog A pseudogene |
AAA1 Geneaortic aneurysm, familial abdominal 1 |
AAA3 GeneAneurysm, familial abdominal 3 |
AAA2 GeneAortic aneurysm, familial abdominal 2 |
AAA4 GeneAortic aneurysm, familial abdominal, 4 |
ETL6 GeneEpilepsy, familial temporal lobe, 6 |
RCM2 Genecardiomyopathy, familial restrictive, 2 |
ATFB8 GeneAtrial fibrillation, familial, 8 |
HNFJ3 GeneHyperuricemic nephropathy, familial juvenile, 3 |
GPSC Genegliosis, familial progressive subcortical |
BHD GeneBeukes familial hip dysplasia |
FAME4 GeneEpilepsy, familial adult myoclonic, 4 |
FAME3 GeneEpilepsy, familial adult myoclonic, 3 |
PFHB2 GeneProgressive familial heart block, type II |
BFIS1 Genebenign familial infantile convulsions |
HBN1 GeneProgressive familial heart block, type I, locus 1 |
ETL2 Geneepilepsy, familial temporal lobe |
FHII GeneHyperaldosteronism, familial, type II |
FCMTE2 Genefamilial cortical myoclonic tremor with epilepsy 2 |
FCMTE1 Genefamilial cortical myoclonic tremor with epilepsy 1 |
GLM4 GeneGlioma, familial, 1 |
PSHK2 GenePseudohyperkalemia, familial, 2, due to red cell leak |
VVS GeneSyncope, familial vasovagal |
BFIS4 GeneConvulsions, benign familial infantile, 4 |
ATFB1 GeneAtrial fibrillation, familial 1 |
ATFB2 Genefamilial atrial fibrillation 2 |
SXI2 GeneX inactivation, familial skewed, 2 |
BFIC2 GeneBenign familial infantile convulsions-2 |
FMTLE GeneEpilepsy, familial mesial temporal lobe |
STUT3 GeneStuttering, familial persistent, 3 |
STUT2 GeneStuttering, familial persistent 2 |
STUT1 GeneStuttering, familial persistent 1 |
STUT4 GeneStuttering, familial persistent, 4 |
BRCD1 Genecancer, familial, with in vitro radioresistance |
MGR2 GeneMigraine, familial typical, susceptibility to |
MGR3 GeneMigraine, familial, with or without aura, susceptibility to |
MFT2 GeneTrichoepithelioma, multiple familial, 2 |
FEB9 GeneFebrile convulsions, familial, 9 |
ATFB5 GeneAtrial fibrillation, familial, 5 |
HTGS GeneHypertriglyceridemia, familial |
DIP Geneinterstitial pneumonitis, desquamative, familial |
CMH21 GeneCardiomyopathy, familial hypertrophic, 21 |
CANDF1 Genecandidiasis, familial 1 |
ATPLS Geneantiphospholipid syndrome, familial |
EOS Geneeosinophilia, familial |
FEB10 GeneFebrile convulsions, familial, 10 |
LVNC2 Genenoncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2 |
THCYTX GeneThrombocytosis, familial X-linked |
CMS1A1 Genemyasthenia gravis, familial infantile, 1 |
BPPV Genevestibulopathy, familial |
AAT2 GeneAortic aneurysm, familial thoracic 2 |
AAT1 GeneAortic aneurysm, familial thoracic 1 |
NKCD GeneNatural killer cell deficiency, familial isolated |