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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

Enhancers for TERC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F169141 1.1 ENCODE 4.1 +620.4 620379 6.8 HDGF SIN3A ARID4B FEZF1 ZNF2 YY1 REST SMARCB1 KAT8 CBX8 TERC GC03M169131 LOC105374206
GH03F169115 0.7 VISTA ENCODE 5.8 +648.9 648882 1.1 CBX3 REST TERC GC03M169131 LINC01997
GH03F169103 0.7 ENCODE 5.5 +660.5 660534 1.8 RFX1 FEZF1 ZNF316 RAD51 PBX2 MYNN HMBOX1 FOS MAFK EMSY TERC GC03M169131 LINC01997
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TERC on UCSC Golden Path with GeneCards custom track

Promoters for TERC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001378964 160 1800 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 NFYC

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

Animal Model Products

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
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
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

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: 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

(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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TERC

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia Telomerase-vert 35
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia Telomerase-vert 35 35
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Terc 35
  • 66 (a)
OneToMany
Gm24413 35
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia Telomerase-vert 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves Telomerase-vert 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia Telomerase-vert 35
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Telomerase-vert 35
  • 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 Sequence Context AA Info Type
rs113487931 Pathogenic 169,765,003(+) CTTCT(C/T)AGTTA nc-transcript-variant
rs141686314 Pathogenic 169,764,833(+) CTGGG(C/T)AGGCG nc-transcript-variant
rs199422255 Pathogenic 169,765,299(-) GCCCT(-/CT)GATAC upstream-variant-2KB
rs199422256 Pathogenic 169,765,160(-) CCCGC(C/G)CGAGA upstream-variant-2KB
rs199422257 Pathogenic 169,765,059(-) CACCG(C/G)GTTGC nc-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

Relevant External Links for TERC Gene

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

(16) MalaCards diseases for TERC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, 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
dyskeratosis congenita
  • zinsser-cole-engman syndrome
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
- 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 22 46 64
  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 22 64
  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 R.Y. … Chasman D.I. (Clin. Chim. Acta 2011) 3 46 64
  4. Multiple genetic variants in telomere pathway genes and breast cancer risk. (PMID: 20056641) Shen J. … Santella R.M. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  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. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 46 64

Products for TERC Gene

Sources for TERC Gene

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