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Aliases for TERC Gene

Subcategory (RNA class) for TERC Gene

telomerase RNA

Quality Score for this RNA gene is


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 Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 and Dyskeratosis Congenita, Autosomal Dominant 1. Among its related pathways are Gastric cancer and Pathways in cancer.

Gene Wiki entry for TERC Gene

Additional gene information for TERC Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I169762 Promoter/Enhancer 1.8 Ensembl ENCODE 550.8 +0.6 641 3.1 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B GC03M169768 GC03M169769 TERC GC03M169767 ENSG00000277925 MYNN SEC62-AS1 PHC3 PRKCI RPL22P1
GH03I169141 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.1 +620.4 620379 6.8 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF213 E2F8 MECOM MYNN TERC GC03M169131 LOC105374206
GH03I169103 Enhancer 0.7 ENCODE 5.5 +660.5 660533 1.8 SMARCE1 MEIS2 GTF2F1 FEZF1 MITF RAD51 ZNF316 JUND POLR2A MYNN TERC GC03M169131 LINC01997 MECOM
GH03I169115 Enhancer 0.4 VISTA ENCODE 5.8 +648.9 648882 1.1 TERC GC03M169131 LINC01997 MECOM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TERC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TERC gene promoter:

Genomic Locations for TERC Gene

Genomic Locations for TERC Gene
541 bases
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

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

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

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 , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for TERC Gene

Pathways & Interactions for TERC Gene

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

Pathways by source for TERC Gene

Interacting Proteins for TERC Gene

Gene Ontology (GO) - Biological Process for TERC Gene


No data available for 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

Drug Products

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:

Clone Products

  • Addgene plasmids for TERC

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

No ASD Table

Relevant External Links for TERC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for TERC Gene:


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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
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
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • 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
  • 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
(Pan troglodytes)
Mammalia Telomerase-vert 34
  • 99 (a)
(Canis familiaris)
Mammalia Telomerase-vert 34
  • 84 (a)
(Bos Taurus)
Mammalia Telomerase-vert 34 34
  • 83 (a)
(Mus musculus)
Mammalia Terc 34
  • 66 (a)
Gm24413 34
  • 63 (a)
(Monodelphis domestica)
Mammalia Telomerase-vert 34
  • 47 (a)
(Gallus gallus)
Aves Telomerase-vert 34
  • 76 (a)
(Anolis carolinensis)
Reptilia Telomerase-vert 34
  • 48 (a)
(Danio rerio)
Actinopterygii Telomerase-vert 34
  • 48 (a)
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

Gene Tree for TERC (if available)
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
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
rs141686314 conflicting-interpretations-of-pathogenicity, likely-benign, Dyskeratosis congenita autosomal dominant, not provided, not specified 169,764,833(-) C/T non_coding_transcript_variant
rs199422255 pathogenic, Dyskeratosis congenita autosomal dominant 169,765,299(-) AGAG/AG upstream_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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

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

Disorder Aliases PubMed IDs
pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
  • pulmonary fibrosis, idiopathic
dyskeratosis congenita, autosomal dominant 1
  • dkca1
dyskeratosis congenita autosomal dominant
  • autosomal dominant dyskeratosis congenita
pulmonary fibrosis, idiopathic
  • ipf
aplastic anemia
  • aplastic anemia, susceptibility to
- 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
Human Genome Epidemiology Navigator
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 22 44 58
  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 22 58
  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 44 58
  4. 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 44 58
  5. Telomerase gene mutation screening in Chinese patients with aplastic anemia. (PMID: 19942288) Han B … Zhao Y (Leukemia research 2010) 3 44 58

Products for TERC Gene

  • Addgene plasmids for TERC

Sources for TERC Gene

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