TENT5A Chromosome 6
Terminal nucleotidyltransferase 5A
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What This Gene Does
Enables poly(A) RNA polymerase activity. Predicted to be involved in mRNA stabilization; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within response to bacterium. Predicted to be located in cytoplasm. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Terminal nucleotidyltransferases
Locus Type
gene with protein product
Location
6q14.1
Ensembl
ENSG00000112773
Associated Conditions (4)
Esophageal atresia
Pyloric stenosis
Osteogenesis imperfecta
type 18
Key Variants
RS774480008
Conflicting classifications of pathogenicity
Health Risk
RS1311215973
Likely pathogenic
Esophageal atresia, Pyloric stenosis, Esophageal atresia
Health Risk
RS1187611948
Pathogenic
Osteogenesis imperfecta, type 18, Osteogenesis imperfecta
Health Risk
RS1554200371
Pathogenic
Osteogenesis imperfecta, type 18, Osteogenesis imperfecta
Health Risk
RS1554200383
Pathogenic
Osteogenesis imperfecta, type 18, Osteogenesis imperfecta
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS774480008 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1311215973 | Health Risk | Likely pathogenic | Esophageal atresia, Pyloric stenosis, Esophageal atresia |
| RS1187611948 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 18, Osteogenesis imperfecta |
| RS1554200371 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 18, Osteogenesis imperfecta |
| RS1554200383 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 18, Osteogenesis imperfecta |