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Aliases for TERC Gene

Subcategory (RNA class) for TERC Gene

telomerase RNA

Quality Score for this RNA gene is

8

Aliases for TERC Gene

  • Telomerase RNA Component 2 3 5
  • Small Cajal Body-Specific RNA 19 2 3
  • SCARNA19 3
  • PFBMFT2 3
  • DKCA1 3
  • TRC3 3
  • 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 telomerase RNA class. Diseases associated with TERC include aplastic anemia and dyskeratosis congenita, autosomal dominant 1.

Gene Wiki entry for TERC Gene

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

Genomics for TERC Gene

Regulatory Elements for TERC Gene

Promoters for TERC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TERC on UCSC Golden Path with GeneCards custom track

Genomic Location for TERC Gene

Chromosome:
3
Start:
169,764,520 bp from pter
End:
169,765,060 bp from pter
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

ORGUL Member Location for TERC Gene

ORGUL Member Location 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

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences 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)

Human Phenotype Ontology for TERC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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

Localization for TERC Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TERC Gene COMPARTMENTS Subcellular localization image for TERC gene
Compartment Confidence
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TERC Gene

Pathways & Interactions for TERC Gene

SuperPathways for TERC Gene

No Data Available

Interacting Proteins for TERC Gene

Gene Ontology (GO) - Biological Process for TERC Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TERC Gene

Drugs & Compounds for TERC Gene

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

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

(19) 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

Transcripts for TERC Gene

mRNA/cDNA for TERC Gene

(1) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TERC Gene

Telomerase RNA component:
Representative Sequences:

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 for TERC Gene

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

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

SOURCE GeneReport for Unigene cluster for TERC Gene Hs.436182

genes like me logo Genes that share expression patterns with TERC: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia Telomerase-vert 36
  • 83 (a)
OneToMany
Telomerase-vert 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia Telomerase-vert 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia Telomerase-vert 36
  • 47 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm24413 36
  • 63 (a)
OneToMany
Terc 36
  • 66 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia Telomerase-vert 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves Telomerase-vert 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia Telomerase-vert 36
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Telomerase-vert 36
  • 48 (a)
OneToOne
Species with no ortholog for TERC:
  • 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 Sequence Context AA Info Type
rs2293607 -- 169,764,547(-) CGGCA(A/G)TGGGG downstream-variant-500B
rs35421373 -- 169,764,321(-) CTTCT(C/G)CCAAG downstream-variant-500B
rs35073794 -- 169,764,347(-) CTCTG(C/T)AGATT downstream-variant-500B
rs58465486 -- 169,765,773(+) GATGG(-/G)AGTCT upstream-variant-2KB
rs35103076 -- 169,764,760(+) CTCTT(-/T)CGCGG nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855
esv2422204 CNV Deletion 17116639

Relevant External Links for TERC Gene

HapMap Linkage Disequilibrium report
TERC
Human Gene Mutation Database (HGMD)
TERC

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

(9) MalaCards diseases for TERC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aplastic anemia
  • pulmonary fibrosis, idiopathic
dyskeratosis congenita, autosomal dominant 1
dyskeratosis congenita autosomal dominant
  • autosomal dominant dyskeratosis congenita
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
dyskeratosis congenita
  • revesz syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TERC in MalaCards View complete list of genes associated with diseases

Relevant External Links for TERC

Genetic Association Database (GAD)
TERC
Human Genome Epidemiology (HuGE) Navigator
TERC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TERC
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 H.Y. … Bessler M. (Blood 2009) 3 23 48 67
  2. Cell cycle-dependent recruitment of telomerase RNA and Cajal bodies to human telomeres. (PMID: 16319170) JA!dy B.E. … Kiss T. (Mol. Biol. Cell 2006) 2 3 23
  3. The human telomerase RNA component, hTR, activates the DNA-dependent protein kinase to phosphorylate heterogeneous nuclear ribonucleoprotein A1. (PMID: 19656952) Ting N.S. … Beattie T.L. (Nucleic Acids Res. 2009) 3 23
  4. Relationship between dyskerin expression and telomerase activity in human breast cancer. (PMID: 18936525) Montanaro L. … Derenzini M. (Cell. Oncol. 2008) 3 23
  5. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. (PMID: 17640862) Marrone A. … Dokal I. (Haematologica 2007) 3 23

Products for TERC Gene

Sources for TERC Gene

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