TERC (telomerase RNA component)

Gene
Gene Gene ontology Other IDs Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7012
Gene name Gene Name - the full gene name approved by the HGNC.
Telomerase RNA component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TERC
Synonyms (NCBI Gene) Gene synonyms aliases
DKCA1, PFBMFT2, SCARNA19, TER, TR, TRC3, hTR
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
602322 11727 ENSG00000270141
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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aplastic anemia aplastic anemia rs199422270, rs199422265, rs199422283 N/A
Dyskeratosis Congenita dyskeratosis congenita, autosomal dominant 1 rs199422264, rs199422270, rs199422266, rs199422267, rs1553915517, rs1553915577, rs199422284, rs1553915591, rs199476393, rs199422263, rs1553915580, rs199422277, rs199422255, rs199422274, rs1553915590 N/A
Pulmonary fibrosis and/or bone marrow failure pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 rs199422268, rs1777959964, rs1553915580, rs199422277, rs2108183105, rs1553915612, rs199422265, rs1553915617, rs199422274, rs1553915621, rs199422270 N/A
Interstitial Lung Disease Interstitial lung disease 2 rs199422268 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Myeloid Leukemia acute myeloid leukemia N/A N/A GenCC
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (96)
Associations from Text Mining Disease 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