RNF6 Chromosome 13
Ring finger protein 6
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What This Gene Does
The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
13q12.13
Ensembl
ENSG00000127870
Associated Conditions (2)
Esophageal squamous cell carcinoma
somatic
Key Variants
RS121434522
Pathogenic
Esophageal squamous cell carcinoma, somatic, Esophageal squamous cell carcinoma
Health Risk
RS121434523
Pathogenic
Esophageal squamous cell carcinoma, somatic, Esophageal squamous cell carcinoma
Health Risk
RS121434524
Pathogenic
Esophageal squamous cell carcinoma, somatic, Esophageal squamous cell carcinoma
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434522 | Health Risk | Pathogenic | Esophageal squamous cell carcinoma, somatic, Esophageal squamous cell carcinoma |
| RS121434523 | Health Risk | Pathogenic | Esophageal squamous cell carcinoma, somatic, Esophageal squamous cell carcinoma |
| RS121434524 | Health Risk | Pathogenic | Esophageal squamous cell carcinoma, somatic, Esophageal squamous cell carcinoma |