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Gene : TERC Homo sapiens

Name  ? telomerase RNA component Cytological Location  3q26.2
Brief Description  telomerase RNA component
description  Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
  • synonyms:
  • TRC3,
  • TERC,
  • U86046,
  • TRC3,
  • DKCA1,
  • SCARNA19,
  • hTR,
  • SCARNA19,
  • OTTHUMG00000184024,
  • NR_001566,
  • PFBMFT2,
  • TR,
  • HGNC:11727,
  • hTR,
  • TR,
  • AF221907,
  • small Cajal body-specific RNA 19,
  • uc003ffr.2
  • identifiers:
  • 7012,
  • ENSG00000277925,
  • TERC

Genome feature

Region: gene ? Length: 451  
Location: 3:169764610-169765060 reverse strand Cyto location: 3q26.2


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

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0 Pathways

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5 Cross References

9 Data Sets

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0 Rna Seq Results