Name

RELB Gene

v-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 Gene

v-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 Gene

v-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 Gene

v-rel avian reticuloendotheliosis viral oncogene homolog A pseudogene

AAA1 Gene

aortic aneurysm, familial abdominal 1

AAA3 Gene

Aneurysm, familial abdominal 3

AAA2 Gene

Aortic aneurysm, familial abdominal 2

AAA4 Gene

Aortic aneurysm, familial abdominal, 4

ETL6 Gene

Epilepsy, familial temporal lobe, 6

RCM2 Gene

cardiomyopathy, familial restrictive, 2

ATFB8 Gene

Atrial fibrillation, familial, 8

HNFJ3 Gene

Hyperuricemic nephropathy, familial juvenile, 3

GPSC Gene

gliosis, familial progressive subcortical

BHD Gene

Beukes familial hip dysplasia

FAME4 Gene

Epilepsy, familial adult myoclonic, 4

FAME3 Gene

Epilepsy, familial adult myoclonic, 3

PFHB2 Gene

Progressive familial heart block, type II

BFIS1 Gene

benign familial infantile convulsions

HBN1 Gene

Progressive familial heart block, type I, locus 1

ETL2 Gene

epilepsy, familial temporal lobe

FHII Gene

Hyperaldosteronism, familial, type II

FCMTE2 Gene

familial cortical myoclonic tremor with epilepsy 2

FCMTE1 Gene

familial cortical myoclonic tremor with epilepsy 1

GLM4 Gene

Glioma, familial, 1

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

VVS Gene

Syncope, familial vasovagal

BFIS4 Gene

Convulsions, benign familial infantile, 4

ATFB1 Gene

Atrial fibrillation, familial 1

ATFB2 Gene

familial atrial fibrillation 2

SXI2 Gene

X inactivation, familial skewed, 2

BFIC2 Gene

Benign familial infantile convulsions-2

FMTLE Gene

Epilepsy, familial mesial temporal lobe

STUT3 Gene

Stuttering, familial persistent, 3

STUT2 Gene

Stuttering, familial persistent 2

STUT1 Gene

Stuttering, familial persistent 1

STUT4 Gene

Stuttering, familial persistent, 4

BRCD1 Gene

cancer, familial, with in vitro radioresistance

MGR2 Gene

Migraine, familial typical, susceptibility to

MGR3 Gene

Migraine, familial, with or without aura, susceptibility to

MFT2 Gene

Trichoepithelioma, multiple familial, 2

FEB9 Gene

Febrile convulsions, familial, 9

ATFB5 Gene

Atrial fibrillation, familial, 5

HTGS Gene

Hypertriglyceridemia, familial

DIP Gene

interstitial pneumonitis, desquamative, familial

CMH21 Gene

Cardiomyopathy, familial hypertrophic, 21

CANDF1 Gene

candidiasis, familial 1

ATPLS Gene

antiphospholipid syndrome, familial

EOS Gene

eosinophilia, familial

FEB10 Gene

Febrile convulsions, familial, 10

LVNC2 Gene

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

THCYTX Gene

Thrombocytosis, familial X-linked

CMS1A1 Gene

myasthenia gravis, familial infantile, 1

BPPV Gene

vestibulopathy, familial

AAT2 Gene

Aortic aneurysm, familial thoracic 2

AAT1 Gene

Aortic aneurysm, familial thoracic 1

NKCD Gene

Natural killer cell deficiency, familial isolated