REL v-rel reticuloendotheliosis viral oncogene homolog (avian)

2002-01-01 Fei Chen Affiliation

Health Effects Laboratory Division, NIOSH, 1095 Willowdale Rd, Morgantown, WV 26505, USA

Identity

HGNC

REL

LOCATION

2p16.1

LOCUSID

5966

ALIAS

C-Rel,HIVEN86A

FUSION GENES

Show Gene Fusions

DNA/RNA

Description

The gene encoding human Rel has 11 exons spanning ~ 40 kb. The promoter region of rel gene contains five NF-kB binding sites and six Sp1 binding sites, and a number of AP2 sites. Thus, the expression of rel gene might be through autoregulation along with certain stress signals.

Proteins

Expression

wide.

Localisation

cytosol, nuclei after activation.

Function

regulation of the genes involved in cell-to-cell interaction, intercellular communication, cell recruitment or transmigration, amplification or spreading of primary pathogenic signals, cell apoptosis, and initiation or acceleration of tumorigenesis. Interaction with: members of IkB family and Rel family; MKK4; c-Fos; c-Jun; UBE2; PPP4C.

Implicated in

Entity name

cancer, autoimmune arthritis, glomerulonephritis, asthma, inflammatory bowel disease, septic shock, lung fibrosis, HTLV-1 infection, and AIDS.

Oncogenesis

Amplification of rel locus was frequently noted in a number of lymphomas.

Note

Only one report suggested the rearrangement of rel gene in certain type of lymphomas. This rearrangement of rel gene resulted in the deletion of the C-terminal domain of Rel and the fusion of the RHD of Rel with Nrg.

Bibliography

Pubmed ID	Last Year	Title	Authors
8717528	1996	The NF-kappa B and I kappa B proteins: new discoveries and insights.	Baldwin AS Jr et al
8281153	1993	Genomic organization of the gene encoding the p65 subunit of NF-kappa B: multiple variants of the p65 protein may be generated by alternative splicing.	Deloukas P et al
9597130	1998	NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses.	Ghosh S et al
1650444	1991	Alterations at the rel locus in human lymphoma.	Lu D et al
10602468	1999	Aberrant rel/nfkb genes and activity in human cancer.	Rayet B et al
9660950	1998	Phosphorylation of NF-kappa B p65 by PKA stimulates transcriptional activity by promoting a novel bivalent interaction with the coactivator CBP/p300.	Zhong H et al

Other Information

Locus ID:

NCBI: 5966
MIM: 164910
HGNC: 9954
Ensembl: ENSG00000162924

Variants:

dbSNP: 5966
ClinVar: 5966
TCGA: ENSG00000162924
COSMIC: REL

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000162924	ENST00000295025	Q04864
ENSG00000162924	ENST00000394479	Q04864
ENSG00000162924	ENST00000642725	A0A2R8Y7Q6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Transcriptional misregulation in cancer	KEGG	ko05202
Transcriptional misregulation in cancer	KEGG	hsa05202
Viral carcinogenesis	KEGG	hsa05203
Viral carcinogenesis	KEGG	ko05203
Ras signaling pathway	KEGG	hsa04014
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Signaling by the B Cell Receptor (BCR)	REACTOME	R-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)	REACTOME	R-HSA-1168372
Activation of NF-kappaB in B cells	REACTOME	R-HSA-1169091

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA33678	PPP3CA	Gene	Pathway	associated	23922006
PA33679	PPP3CB	Gene	Pathway	associated	23922006
PA33680	PPP3CC	Gene	Pathway	associated	23922006
PA33681	PPP3R1	Gene	Pathway	associated	23922006
PA33682	PPP3R2	Gene	Pathway	associated	23922006

References

Pubmed ID	Year	Title	Citations
20953190	2010	A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.	309
19503088	2009	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	131
19503088	2009	REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.	131
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
21037568	2010	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	80
21037568	2010	A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).	80
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
15870177	2005	NFkappaB activity, function, and target-gene signatures in primary mediastinal large B-cell lymphoma and diffuse large B-cell lymphoma subtypes.	65
21283787	2011	Selective C-Rel activation via Malt1 controls anti-fungal T(H)-17 immunity by dectin-1 and dectin-2.	64

Citation

Fei Chen

REL v-rel reticuloendotheliosis viral oncogene homolog (avian)

Atlas Genet Cytogenet Oncol Haematol. 2002-01-01

Online version: http://atlasgeneticsoncology.org/gene/322/rel