RELB Chromosome 19
RELB proto-oncogene, NF-kB subunit
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What This Gene Does
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, Jul 2025]
Gene Info
Gene Group
"NF-kappa B complex subunits|IPT domain containing"
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000104856
Associated Conditions (1)
Immunodeficiency 53
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1971589003 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 53, Immunodeficiency 53 |
| RS1971498371 | Health Risk | Likely pathogenic | — |
| RS745463649 | Health Risk | Pathogenic | Immunodeficiency 53, Immunodeficiency 53 |