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 i... See more...

Aliases for TERC Gene

Subcategory (RNA class) for TERC Gene

lncRNA

Quality Score for this RNA gene is

15

Aliases for TERC Gene

  • Telomerase RNA Component 2 3 5
  • Small Cajal Body-Specific RNA 19 2 3
  • NONHSAG036615 94
  • Lnc-ACTRT3-2 170
  • SCARNA19 3
  • PFBMFT2 3
  • DKCA1 3
  • TRC3 3
  • TERC 2
  • HTR 3
  • TR 3

External Ids for TERC Gene

Previous GeneCards Identifiers for TERC Gene

  • GC03U990074
  • GC03M170803
  • GC03M170965
  • GC03M169483
  • GC03M166852
  • GC03M169486
  • GC03M169490
  • GC03M169496

Summaries for TERC Gene

Entrez Gene Summary for TERC 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 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]

GeneCards Summary for TERC Gene

TERC (Telomerase RNA Component) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with TERC include Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 and Dyskeratosis Congenita, Autosomal Dominant 1. Among its related pathways are Pathways in cancer and Gastric cancer.

Gene Wiki entry for TERC Gene

Rfam classification for TERC Gene

  • Vertebrate telomerase RNA

Additional gene information for TERC Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for TERC Gene

Genomics for TERC Gene

GeneHancer (GH) Regulatory Elements for TERC Gene

Promoters and enhancers for TERC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J169762 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 750.6 +0.6 578 2.9 ZNF785 SIN3A ZNF24 ZBTB40 CTCF SIX5 SMARCE1 POLR2A CTBP1 ATF1 AF047386 ENSG00000277925 TERC MYNN ENSG00000239628 LRRC34 ENSG00000270096 PRKCI PHC3 RPL22P1
GH03J169141 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.1 +618.1 618108 11.3 FOXK2 ZBTB40 CTCF ZBTB6 SMARCE1 POLR2A CTBP1 ZNF362 CC2D1A ELF1 MECOM MYNN ENSG00000270096 LRRC34 TERC lnc-ACTRT3-6 HSALNG0030569
GH03J169103 Enhancer 0.7 Ensembl ENCODE 5.5 +660.3 660259 2.4 GATA3 SMARCE1 POLR2A ZNF316 GTF2F1 RAD51 FOS FEZF1 MAFK JUND TERC lnc-ACTRT3-7 HSALNG0030563 MECOM
GH03J169115 Enhancer 0.7 VISTA Ensembl ENCODE 5.8 +648.0 647958 3 JUN POLR2A TERC lnc-ACTRT3-7 HSALNG0030563 MECOM
GH03J169768 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.6 -4.5 -4543 1.6 SIN3A ZBTB6 RBPJ POLR2A CC2D1A MNT ZBTB33 ELF3 SP7 ELF1 MYNN ACTRT3 ENSG00000269889 PRKCI LRRC34 AF047386 TERC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TERC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TERC gene promoter:
  • AREB6
  • Arnt
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • HFH-3
  • p53
  • Sp1

Genomic Locations for TERC Gene

Genomic Locations for TERC Gene
chr3:169,764,520-169,765,060
(GRCh38/hg38)
Size:
541 bases
Orientation:
Minus strand
chr3:169,482,308-169,482,848
(GRCh37/hg19)
Size:
541 bases
Orientation:
Minus strand

Genomic View for TERC Gene

Genes around TERC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TERC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TERC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TERC Gene

Proteins for TERC Gene

Post-translational modifications for TERC Gene

No Post-translational modifications

No data available for DME Specific Peptides for TERC Gene

Domains & Families for TERC Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TERC Gene

Function for TERC Gene

Molecular function for TERC Gene

GENATLAS Biochemistry:
telomerase RNA component,involved in telomere maintenance as template in telomeric DNA synthesis,transcription up-regulated by endogeneous TERT,strongly expressed in embryonic tissues (undifferentialed neuroepithelium,epithelium,mesenchymes) absent in differentiated tissues except dividing cells (testis,lymphoid follicles,regenerative epithelia)

Phenotypes From GWAS Catalog for TERC Gene

Gene Ontology (GO) - Molecular Function for TERC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000332 template for synthesis of G-rich strand of telomere DNA activity IDA 9398860
GO:0003720 contributes_to telomerase activity TAS 23474713
GO:0003721 contributes_to telomerase RNA reverse transcriptase activity IMP 11313459
GO:0003964 contributes_to RNA-directed DNA polymerase activity IDA 19701182
GO:0005515 protein binding IPI 10757788
genes like me logo Genes that share ontologies with TERC: view

Human Phenotype Ontology for TERC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TERC Gene

Localization for TERC Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TERC gene
Compartment Confidence
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TERC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000333 telomerase catalytic core complex IMP 11313459
GO:0000781 colocalizes_with chromosome, telomeric region IMP 26950371
GO:0005697 telomerase holoenzyme complex IPI 19701182
GO:0005737 cytoplasm IMP 26950371
GO:0015030 Cajal body IMP 25467444
genes like me logo Genes that share ontologies with TERC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TERC Gene

Pathways & Interactions for TERC Gene

PathCards logo

SuperPathways for TERC Gene

genes like me logo Genes that share pathways with TERC: view

Pathways by source for TERC Gene

Gene Ontology (GO) - Biological Process for TERC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007004 telomere maintenance via telomerase IDA 9443919
GO:0071456 cellular response to hypoxia IMP 11313459
GO:0071897 DNA biosynthetic process IDA 19701182
GO:2000773 negative regulation of cellular senescence IMP 11313459
genes like me logo Genes that share ontologies with TERC: view

No data available for SIGNOR curated interactions for TERC Gene

Drugs & Compounds for TERC Gene

(15) Drugs for TERC Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BIBR 1532 Pharma Telomerase inhibitor,novel and selective, Selective telomerase inhibitor 0

(18) Additional Compounds for TERC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TERC Gene

Compound Action Cas Number
BIBR 1532 Telomerase inhibitor,novel and selective 321674-73-1
genes like me logo Genes that share compounds with TERC: view

Drug Products

Transcripts for TERC Gene

mRNA/cDNA for TERC Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
(1) NONCODE transcripts :
(5) RNACentral transcripts :
(2) ENA transcripts :
(4) LNCipedia transcripts :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for TERC Gene

No ASD Table

Relevant External Links for TERC Gene

GeneLoc Exon Structure for
TERC
ECgene alternative splicing isoforms for
TERC

Expression for TERC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TERC Gene

mRNA differential expression in normal tissues according to GTEx for TERC Gene

This gene is overexpressed in Testis (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of TERC Gene:

TERC

SOURCE GeneReport for Unigene cluster for TERC Gene:

Hs.436182

Phenotype-based relationships between genes and organs from Gene ORGANizer for TERC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TERC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for TERC Gene

Orthologs for TERC Gene

This gene was present in the common ancestor of chordates.

Orthologs for TERC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia Telomerase-vert 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia Telomerase-vert 33
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia Telomerase-vert 33 33
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Terc 33
  • 66 (a)
OneToMany
Gm24413 33
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia Telomerase-vert 33
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves Telomerase-vert 33
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia Telomerase-vert 33
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Telomerase-vert 33
  • 48 (a)
OneToOne
Species where no ortholog for TERC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TERC Gene

ENSEMBL:
Gene Tree for TERC (if available)
TreeFam:
Gene Tree for TERC (if available)

Paralogs for TERC Gene

No data available for Paralogs for TERC Gene

Variants for TERC Gene

Sequence variations from dbSNP and Humsavar for TERC Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1046452760 uncertain-significance, Dyskeratosis congenita autosomal dominant 169,764,670(-) G/A non_coding_transcript_variant
rs1060502986 uncertain-significance, Dyskeratosis congenita autosomal dominant 169,764,610(-) G/A non_coding_transcript_variant
rs1060502987 uncertain-significance, Dyskeratosis congenita autosomal dominant 169,765,041(-) A/G non_coding_transcript_variant
rs113487931 pathogenic, benign, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2, Aplastic anemia, Dyskeratosis congenita autosomal dominant, not specified 169,765,003(-) C/T non_coding_transcript_variant
rs1159032173 uncertain-significance, Dyskeratosis congenita autosomal dominant 169,765,050(-) C/A non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TERC Gene

Variant ID Type Subtype PubMed ID
esv2422204 CNV deletion 17116639
nsv7356 OTHER inversion 18451855

Additional Variant Information for TERC Gene

Human Gene Mutation Database (HGMD)
TERC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TERC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for TERC Gene

Disorders for TERC Gene

MalaCards: The human disease database

(26) MalaCards diseases for TERC Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TERC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TERC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TERC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TERC Gene

Publications for TERC Gene

  1. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (PMID: 18931339) Du HY … Bessler M (Blood 2009) 3 23 43 56
  2. Cell cycle-dependent recruitment of telomerase RNA and Cajal bodies to human telomeres. (PMID: 16319170) Jády BE … Kiss T (Molecular biology of the cell 2006) 2 3 23 56
  3. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study. (PMID: 20937264) Zee RY … Chasman DI (Clinica chimica acta; international journal of clinical chemistry 2011) 3 43 56
  4. Multiple genetic variants in telomere pathway genes and breast cancer risk. (PMID: 20056641) Shen J … Santella RM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 43 56
  5. Evolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians. (PMID: 19915151) Atzmon G … Suh Y (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 43 56

Products for TERC Gene

Sources for TERC Gene