TERC (telomerase RNA component)

2003-02-01  

Identity

HGNC
LOCATION
3q26.2
LOCUSID
ALIAS
DKCA1,PFBMFT2,SCARNA19,TR,TRC3,hTR

Other Information

Locus ID:

NCBI: 7012
MIM: 602322
HGNC: 11727
Ensembl: ENSG00000277925

Variants:

dbSNP: 7012
ClinVar: 7012
TCGA: ENSG00000277925
COSMIC: TERC

RNA/Proteins

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseMultilinkAnnotationassociated26720789

References

Pubmed IDYearTitleCitations
173958302007Protein composition of catalytically active human telomerase from immortal cells.211
186358882008Telomere shortening in familial and sporadic pulmonary fibrosis.158
150980332004Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.139
201399772010Common variants near TERC are associated with mean telomere length.136
204214992010Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.122
149810932004Human telomerase RNA and box H/ACA scaRNAs share a common Cajal body-specific localization signal.120
163329732006Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.111
126767742003Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.103
199151512010Evolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians.87
178896622007Human telomerase RNA accumulation in Cajal bodies facilitates telomerase recruitment to telomeres and telomere elongation.81

Citation

Dessen P

TERC (telomerase RNA component)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/255/terc