RELA Chromosome 11
RELA proto-oncogene, NF-kB subunit
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What This Gene Does
NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"NF-kappa B complex subunits|IPT domain containing"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000173039
Associated Conditions (4)
Mucocutaneous ulceration
chronic
RELA-related disorder
Childhood-onset schizophrenia
Key Variants
RS1190765527
Conflicting classifications of pathogenicity
Mucocutaneous ulceration, chronic, Mucocutaneous ulceration
Health Risk
RS145138143
Conflicting classifications of pathogenicity
Mucocutaneous ulceration, chronic, Mucocutaneous ulceration
Health Risk
RS199846198
Conflicting classifications of pathogenicity
Health Risk
RS201037601
Conflicting classifications of pathogenicity
Health Risk
RS763729954
Conflicting classifications of pathogenicity
Mucocutaneous ulceration, chronic, Mucocutaneous ulceration
Health Risk
RS1590931704
Likely pathogenic
Mucocutaneous ulceration, Mucocutaneous ulceration
Health Risk
RS2496867941
Likely pathogenic
RELA-related disorder, RELA-related disorder
Health Risk
RS2496871237
Likely pathogenic
Health Risk
RS749716796
Likely pathogenic
Mucocutaneous ulceration, chronic, Mucocutaneous ulceration
Health Risk
RS863223356
Likely pathogenic
Childhood-onset schizophrenia, Childhood-onset schizophrenia
Health Risk
RS1213368057
Pathogenic
Health Risk
RS1268667021
Pathogenic
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1190765527 | Health Risk | Conflicting classifications of pathogenicity | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS145138143 | Health Risk | Conflicting classifications of pathogenicity | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS199846198 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201037601 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763729954 | Health Risk | Conflicting classifications of pathogenicity | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS1590931704 | Health Risk | Likely pathogenic | Mucocutaneous ulceration, Mucocutaneous ulceration |
| RS2496867941 | Health Risk | Likely pathogenic | RELA-related disorder, RELA-related disorder |
| RS2496871237 | Health Risk | Likely pathogenic | — |
| RS749716796 | Health Risk | Likely pathogenic | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS863223356 | Health Risk | Likely pathogenic | Childhood-onset schizophrenia, Childhood-onset schizophrenia |
| RS1213368057 | Health Risk | Pathogenic | — |
| RS1268667021 | Health Risk | Pathogenic | — |
| RS149145548 | Health Risk | Pathogenic | Mucocutaneous ulceration, chronic, RELA-related disorder |
| RS1565190345 | Health Risk | Pathogenic | — |
| RS1565191003 | Health Risk | Pathogenic | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS1590937041 | Health Risk | Pathogenic | — |
| RS2135548845 | Health Risk | Pathogenic | — |
| RS2135549951 | Health Risk | Pathogenic | — |
| RS2135572911 | Health Risk | Pathogenic | — |
| RS2496824516 | Health Risk | Pathogenic | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS2496825673 | Health Risk | Pathogenic | — |
| RS2496826579 | Health Risk | Pathogenic | — |
| RS2496827042 | Health Risk | Pathogenic | — |
| RS2496833014 | Health Risk | Pathogenic | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS2496834411 | Health Risk | Pathogenic | — |
| RS2496847338 | Health Risk | Pathogenic | — |
| RS2496848830 | Health Risk | Pathogenic | — |
| RS2496858372 | Health Risk | Pathogenic | — |
| RS929817187 | Health Risk | Pathogenic | — |
| RS1326268854 | Health Risk | Pathogenic/Likely pathogenic | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |
| RS1856484601 | Health Risk | Pathogenic/Likely pathogenic | RELA-related disorder, RELA-related disorder |
| RS2496827835 | Health Risk | Pathogenic/Likely pathogenic | Mucocutaneous ulceration, chronic, Mucocutaneous ulceration |