REL Gene: REL Proto-Oncogene, NF-kB Subunit

Comprehensive genomic and functional analysis of the REL gene, a key transcription factor in immune regulation and oncogenesis.

Gene Information Card

Symbol REL
Full Name REL proto-oncogene, NF-kB subunit
Gene Type protein-coding
Chromosomal Location 2p16.1
NCBI Gene ID 5966 ncbi.nlm.nih.gov/gene/5966
Ensembl ID ENSG00000162924
UniProt ID Q04864
OMIM ID 164910
HGNC ID 9955
Aliases c-Rel, NF-kB p65 subunit, RELA-like

Description

The REL gene encodes the c-Rel protein, a member of the NF-kB family of transcription factors. c-Rel forms homodimers or heterodimers with other NF-kB subunits (e.g., p50, p65) and regulates the expression of genes involved in immune response, inflammation, cell survival, and proliferation. REL is classified as a proto-oncogene due to its frequent amplification and overexpression in B-cell lymphomas and other cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Diffuse Large B-cell Lymphoma REL amplification leads to increased NF-kB signaling, promoting cell survival and proliferation. Amplification observed in ~20% of DLBCL cases (COSMIC, ClinVar).
Hodgkin Lymphoma REL amplification and overexpression contribute to constitutive NF-kB activation in Hodgkin/Reed-Sternberg cells. Frequent gain/amplification reported (NCBI, OMIM).
Primary Mediastinal B-cell Lymphoma REL amplification is a hallmark genomic alteration driving NF-kB pathway activation. Recurrent amplification at 2p16.1 (COSMIC, ClinVar).
Follicular Lymphoma REL amplification may occur as a secondary event, enhancing NF-kB signaling. Amplification reported in a subset of cases (NCBI).

Expression Profile

Tissue Expression
Tissue nTPM level
Lymph node 12.5 High
Spleen 10.8 High
Bone marrow 8.2 Medium
Lung 4.1 Low
Brain 1.3 Not detected
Cell Line Expression
Cell Line nTPM Notes
Raji (Burkitt lymphoma) 15.2 High expression; NF-kB active
Jurkat (T-cell leukemia) 9.7 Moderate expression
HEK293 (embryonic kidney) 3.5 Low expression
HeLa (cervical carcinoma) 5.8 Medium expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
REL amplification Copy number gain ~20% in DLBCL Increased NF-kB activity
REL p.Gly307Arg Missense <1% in lymphoid malignancies Unknown functional effect
REL p.Arg335* Nonsense Rare Loss of function (truncation)
Mutation functional classification

Loss of Function (LOF)

Rare nonsense mutations (e.g., p.Arg335*) lead to truncated protein and reduced NF-kB signaling.

Gain of Function (GOF)

Gene amplification and overexpression result in constitutive NF-kB activation, promoting oncogenesis.

Dominant Negative (DN)

Not well documented; some missense variants may interfere with dimerization but evidence is limited.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/5966
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=REL

Gene Ontology (GO)

• DNA-binding transcription factor activity (GO:0003700) • NF-kappaB binding (GO:0051059)
• protein dimerization activity (GO:0046983) • regulation of inflammatory response (GO:0050727)
• positive regulation of transcription by RNA polymerase II (GO:0045944)

Pathways

• NF-kB signaling pathway (KEGG hsa04064)
• Toll-like receptor signaling pathway (KEGG hsa04620)
• B cell receptor signaling pathway (KEGG hsa04662)
• TNF signaling pathway (KEGG hsa04668)

Protein Summary

The c-Rel protein (UniProt Q04864) is a 619-amino acid transcription factor containing a conserved N-terminal Rel homology domain (RHD) responsible for DNA binding and dimerization, and a C-terminal transactivation domain. It shuttles between cytoplasm and nucleus; upon activation, it translocates to the nucleus to regulate target genes. c-Rel is critical for B-cell and T-cell function, and its dysregulation is a hallmark of several lymphoid malignancies.

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Product name Cat.No. Species Gene ID
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RELCH Knockout HEK293 Cell Line EDJ-KQ15030 Human 57614 Details Get a Quote
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RELA Knockout A-549 Cell Line EDJ-KQ19008 Human 5970 Details Get a Quote
RELA Knockout HCT 116 Cell Line EDJ-KQ19009 Human 5970 Details Get a Quote
RELA Knockout HeLa Cell Line EDJ-KQ19010 Human 5970 Details Get a Quote
RELB Knockout A-549 Cell Line EDJ-KQ19011 Human 5971 Details Get a Quote
RELB Knockout HCT 116 Cell Line EDJ-KQ19012 Human 5971 Details Get a Quote
RELB Knockout HeLa Cell Line EDJ-KQ19013 Human 5971 Details Get a Quote
RELCH Knockout A-549 Cell Line EDJ-KQ44308 Human 57614 Details Get a Quote

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/5966
OMIM https://www.omim.org/entry/164910
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9955
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162924
UniProt https://www.uniprot.org/uniprot/Q04864
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=REL%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=REL
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