RELT Chromosome 11
RELT TNF receptor
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What This Gene Does
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Tumor necrosis factor receptor superfamily|RELT family"
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000054967
Associated Conditions (2)
Amelogenesis imperfecta
type 3C
Key Variants
RS139368769
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta
Health Risk
RS2496008939
Likely pathogenic
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS569625319
Likely pathogenic
Health Risk
RS771045558
Likely pathogenic
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS1565222166
Pathogenic
Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta
Health Risk
RS1866200282
Pathogenic
Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta
Health Risk
RS762816338
Pathogenic
Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta
Health Risk
RS772929908
Pathogenic
Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139368769 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta |
| RS2496008939 | Health Risk | Likely pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS569625319 | Health Risk | Likely pathogenic | — |
| RS771045558 | Health Risk | Likely pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS1565222166 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta |
| RS1866200282 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta |
| RS762816338 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta |
| RS772929908 | Health Risk | Pathogenic | Amelogenesis imperfecta, type 3C, Amelogenesis imperfecta |