REL Chromosome 2
REL proto-oncogene, NF-kB subunit
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What This Gene Does
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]
Gene Info
Gene Group
"NF-kappa B complex subunits|IPT domain containing"
Locus Type
gene with protein product
Location
2p16.1
Ensembl
ENSG00000162924
Associated Conditions (12)
Immunodeficiency 92
Lymphoma
Ovarian serous cystadenocarcinoma
Thymoma
Acute myeloid leukemia
Ovarian cancer
Familial pancreatic carcinoma
Lung cancer
Familial cancer of breast
Sarcoma
Malignant tumor of esophagus
Cervical cancer
Key Variants
RS142878172
Conflicting classifications of pathogenicity
Immunodeficiency 92, Lymphoma, Ovarian serous cystadenocarcinoma
Health Risk
RS199772834
Conflicting classifications of pathogenicity
Health Risk
RS778774642
Likely pathogenic
Health Risk
RS2103978009
Pathogenic
Immunodeficiency 92, Immunodeficiency 92
Health Risk
RS2103978347
Pathogenic
Immunodeficiency 92, Immunodeficiency 92
Health Risk
RS2466286557
Pathogenic
Health Risk
RS746603120
Pathogenic
Health Risk
RS918184529
Pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142878172 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 92, Lymphoma, Ovarian serous cystadenocarcinoma |
| RS199772834 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778774642 | Health Risk | Likely pathogenic | — |
| RS2103978009 | Health Risk | Pathogenic | Immunodeficiency 92, Immunodeficiency 92 |
| RS2103978347 | Health Risk | Pathogenic | Immunodeficiency 92, Immunodeficiency 92 |
| RS2466286557 | Health Risk | Pathogenic | — |
| RS746603120 | Health Risk | Pathogenic | — |
| RS918184529 | Health Risk | Pathogenic | — |