REL

Chr 2p16.1

REL proto-oncogene, NF-kB subunit

Aliases:: I-Rel, c-Rel, HIVEN86A
MANE:: ENST00000394479.4

OMIM: 164910 ↗NCBI: 5966 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

REL · Q04864

v62025-08-01

Predicted Aligned Error matrix for REL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.3/ 100

Low

619 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)8%
Low(50–70)2%
Very low(< 50)50%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Familial Meniere Disease

Disease associations (Open Targets)

immunodeficiency 92
0.59
rheumatoid arthritis
0.43
psoriasis
0.41
lymphoid neoplasm
0.37
neurodegenerative disease
0.37
bile duct carcinoma
0.37
autoimmune disorder of central nervous system
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37
gliomatosis cerebri
0.37
carcinoma of liver and intrahepatic biliary tract
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Proto-oncogene c-Rel

Proto-oncogene that may play a role in differentiation and lymphopoiesis. 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. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator