TERC (telomerase RNA component)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Pathways Associated diseases
Entrez ID 7012
Gene name Telomerase RNA component
Gene symbol TERC
Synonyms (NCBI Gene)
DKCA1PFBMFT2SCARNA19TERTRTRC3hTR
Chromosome 3
Chromosome location 3q26.2
Summary 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene Gene ontology Other IDs Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000332 Function Template for synthesis of G-rich strand of telomere DNA activity IDA 9398860, 17940095, 19701182
GO:0000333 Component Telomerase catalytic core complex IDA 9398860, 9443919, 18082603, 19701182
GO:0000333 Component Telomerase catalytic core complex IEA
GO:0000333 Component Telomerase catalytic core complex IMP 11313459
GO:0000781 Component Chromosome, telomeric region IMP 26950371
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
602322 11727 ENSG00000270141
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Pathways Associated diseases
  KEGG 
  Pathways in cancer
Hepatocellular carcinoma
Gastric cancer 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
391
Gene Gene ontology Other IDs Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aplastic anemia Pathogenic rs199422265, rs199422270, rs199422283 RCV000032581
RCV000032556
RCV000032574
Dyskeratosis congenita, autosomal dominant 1 Likely pathogenic; Pathogenic rs2474262453, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs199422263, rs1553915577, rs1553915591, rs1553915580, rs1553915590, rs199422255, rs199422274, rs199422264, rs199422266
View all (5 more)		 RCV003008403
RCV000007743
RCV000007744
RCV000007745
RCV000032564
RCV001214506
RCV000023192
RCV000500627
RCV000503728
RCV001375864
RCV005252940
RCV000032557
RCV000032561
RCV000032579
RCV000032582
RCV000032583
RCV001172442
RCV001172443
RCV001222798
RCV001249192
Interstitial lung disease 2 Pathogenic rs199422268 RCV000032584
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 Pathogenic; Likely pathogenic rs199422277, rs199422265, rs199422270, rs199422268, rs1777959964, rs1553915580, rs1553915612, rs1553915617, rs1553915621, rs2108183105, rs199422274 RCV000007746
RCV000007748
RCV000007749
RCV000007751
RCV000007752
RCV000677352
RCV000677351
RCV000677350
RCV000677349
RCV000030634
RCV001610304
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dyskeratosis congenita Uncertain significance rs753227339 RCV002257805
Pulmonary fibrosis Uncertain significance; Likely risk allele; Conflicting classifications of pathogenicity rs2108183041, rs2474262070, rs2108182735, rs1032106566, rs2108182738, rs199422272, rs1277188982, rs199422261, rs1577384356, rs1777962078 RCV002509732
RCV002509779
RCV002509814
RCV002509815
RCV002509816
RCV002509148
RCV002509425
RCV002509180
RCV002509547
RCV002509627
Telomere syndrome Conflicting classifications of pathogenicity rs1777963668 RCV003325411
Show/Hide Text Mining Associations (96)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 15823123, 16847471
Adenoma Associate 9914788
Alternating hemiplegia of childhood Associate 18414473, 28082393
Alveolitis Extrinsic Allergic Associate 34996848
Alzheimer Disease Associate 15238429
Anemia Aplastic Associate 12676774, 15319288, 15814878, 15886322, 17640862, 21436073, 21931702
Aneuploidy Associate 24948335
Arrhythmias Cardiac Associate 29344960
Atypical Squamous Cells of the Cervix Associate 23408758
Bone Marrow Failure Disorders Associate 12676774, 15886322, 19936245, 21436073, 21931702, 22507770, 24948335