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TERT Gene

protein-coding GIFtS: 71

GC05M001306

telomerase reverse transcriptase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
EC 2.7.7.49 ^³
EST2 ^¹, ², ³, ⁵
HEST2 ^³
TCS1 ^¹, ², ³, ⁵
TP2 ^¹, ², ³
TRT ^¹, ², ³
hEST2 ^¹, ²

Descriptions
Telomerase catalytic subunit ^², ³
Telomerase-associated protein 2 ^³
telomerase reverse transcriptase ^²

External Ids
HGNC: 11730¹
Entrez Gene: 7015²
UniProtKB: O14746³
Ensembl: ENSG00000164362⁷

Search outside databases for aliases for TERT gene

Previous GC identifers: GC05P001643 GC05M001282

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for TERT:

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, encoded by this gene, and an RNA component which 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. Alternatively spliced variants encoding different

isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of

some variants has not been determined. Alternative splicing at this locus is thought to be one

mechanism of regulation of telomerase activity. [provided by RefSeq]

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746

Function: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome

termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple

sequence repeats to chromosome ends by copying a template sequence within the RNA component of the

enzyme

Gene Wiki entry for TERT (Telomerase_reverse_transcriptase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TERT gene

Entrez Gene cytogenetic band: 5p15.33 Ensembl cytogenetic band: 5p15.33 HGNC cytogenetic band: 5p15.33

TERT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M001306: (about GC identifiers)

Start:	1,306,282 bp from pter
End:	1,348,162 bp from pter
Size:	41,881 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000005.8 NT_006576.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746 (See protein sequence)

Recommended Name: Telomerase reverse transcriptase

Size: 1132 amino acids; 126997 Da

Subunit: Catalytic subunit of the telomerase holoenzyme complex at least composed of TERT, DKC1,

WDR79/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC).

Interacts with PINX1 and MCRS1

Subcellular location: Nucleus. Telomere

PDB structures from and Proteopedia :

2BCK (3D)

Secondary accessions: O14783 Q2XS35 Q8N6C3 Q8NG46

Alternative splicing: 3 isoforms: O14746-1 O14746-2 O14746-3

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_937983.2 NP_937986.1

ENSEMBL proteins:

ENSP00000296820 ENSP00000309572 ENSP00000334346

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Telomerase)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000781	chromosome, telomeric region	IC	12135483
GO:0000783	nuclear telomere cap complex	IC	15632080
GO:0005634	nucleus	IEA	--
GO:0005654	nucleoplasm	EXP	15060173 15189140
GO:0005694	chromosome	IEA	--

About this table

Antibodies for TERT:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for TERT
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Telomerase), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TERT)
	Novus Biologicals Antibodies for TERT

Assays for TERT:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry O14746

ProtoNet protein and cluster: O14746

1 Blocks protein family: IPB003545 Telomere reverse transcriptase signature

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746

Similarity: Belongs to the reverse transcriptase family. Telomerase subfamily

Similarity: Contains 1 reverse transcriptase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TERT)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TERT)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_003219

Applied Biosystems Silencer® siRNAs for TERT

Sigma-Aldrich siRNA and siRNA Panels for TERT

Sigma-Aldrich shRNA for TERT

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_198253
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_198253
untagged cDNA clones in CMV expression vector (see all 2): NM_198253

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_003219

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746

Function: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome

termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple

sequence repeats to chromosome ends by copying a template sequence within the RNA component of the

enzyme

Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

Enzyme Number (IUBMB): EC 2.7.7.49

Genatlas biochemistry entry for TERT:

telomerase,catalytic subunit,yeast Est2 homolog,100kDa,involved in telomere maintenance,putative

up-regulated c-Myc target gene,protein activity deleted in cancer,repressed in normal tissues

6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Tert):

cellular	endocrine/exocrine gland	homeostasis/metabolism	normal	reproductive system
tumorigenesis

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003721	telomeric template RNA reverse transcriptase activity	TAS	14991929
GO:0005515	protein binding	IPI	18358808
GO:0016740	transferase activity	IEA	--
GO:0016779	nucleotidyltransferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Gene Network Central^TM Interacting Genes and Proteins Network for TERT

5/106 Interacting proteins for TERT (O14746^{1, 2} ENSP00000309572³) via UniProtKB, MINT, and/or STRING (see all 106 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AKT1	P31749², ENSP00000270202³	MINT-6742762 STRING (score=.999)
RUVBL1	Q9Y265¹, ENSP00000318297³	EBI-1772203, EBI-353675 STRING (score=.779)
HSP90AA2	ENSP00000335153³	STRING (score=.999)
DKC1	ENSP00000358563³	STRING (score=.998)
ENSG00000104637	ENSP00000318966³	STRING (score=.997)

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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000723	telomere maintenance	TAS	12135483
GO:0006916	anti-apoptosis	IMP	10449030
GO:0007004	telomere maintenance via telomerase	IMP	9454332
GO:0010149	senescence	IMP	9454332
GO:0022616	DNA strand elongation	IDA	16043710

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for TERT

Sigma-Aldrich Small Molecules for TERT:

Inhibitor

Compounds for TERT available from Tocris Bioscience

Compound	Action	CAS number
BIBR 1532	Selective telomerase inhibitor	[321674-73-1]
Costunolide	Inhibitor of human telomerase activity	[553-21-9]

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10/18 Novoseek chemical compound relationships for TERT gene (see all 18 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tin(2+)	62.08	7	12007281 (2), 11494028 (1), 19419704 (1), 18669893 (1)
lipofectamine	39.27	1	17495775 (1)
oligonucleotide	18.72	4	12838868 (1), 17991312 (1), 12519411 (1)
wortmannin	5.85	2	16093915 (1)
zinc	3.11	5	8961924 (2), 15983032 (1)
cdcs	1.47	2	16953888 (1), 12629597 (1)
nitric oxide	1.17	3	17943236 (1), 11679409 (1), 12201830 (1)
oxygen	0.29	4	14963003 (2), 12824159 (1), 17943236 (1)
calcium	0.22	3	15375555 (1), 17720143 (1), 17197440 (1)
lipid	0.07	1	18802925 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TERT)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TERT)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_003219

Sigma-Aldrich siRNA and siRNA Panels for TERT

Sigma-Aldrich shRNA for TERT

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_198253 NM_198255

REFSEQ mRNAs for TERT gene (2 alternative transcripts):

NM_198253.2 NM_198255.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_198253 NM_198255

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_198253
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_198253
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_198253

Additional cDNA sequence:

AB085628.1 AF015950.1 AF018167.1 BC062321.1

3 DOTS entries:

DT.108983 DT.101961620 DT.40268927

24/29 AceView cDNA sequences (see all 29 ):

AF015950 AB086379 NM_198253 NM_198255 NM_003219 AW276315 AX810038 NM_198254

AB085628 AB086950 AI824948 BC062321 AX810036 BE514188 AA299878 BM453198

AX810043 AA281296 AA311750 AW270031 AF018167 BM824748 BE514070 AA811084

highest scoring ESTs for TERT:

AF015950 AB085628 AF018167 AA281296 AA748707 AA811084 AB086379 AB086950 AI824948 AW270031

Unigene Cluster for TERT:

Telomerase reverse transcriptase

Hs.492203 [show with all ESTs]

Unigene Representative Sequence: AF018167

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for TERT

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b
SP1:							-
SP2:							-																				-
SP3:							-												-		-						-
SP4:							-								-				-		-						-
SP5:																			-		-

About this scheme

ECgene alternative splicing isoforms for TERT

3 Ensembl transcripts including schematic representations:

ENST00000296820 ENST00000310581 ENST00000334602

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TERT expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TERT

¹ / ² / ³

4 probe-sets matching TERT gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1869_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AF015950	1.00	1.00	1.00	1
207199_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_003219	0.40	1.00	0.76	1
207199_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1555271_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks TERT for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCCGGCTGAA

SOURCE GeneReport for Unigene cluster: Hs.492203
Expression variation in blood from EXPOLDB for TERT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TERT gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TERT¹	--	telomerase reverse transcriptase	78.41(n) 74.67(a)	403412 XM_846571.1 XP_851664.1
chimpanzee (Pan troglodytes)	TERT¹	--	telomerase reverse transcriptase	98(n) 97.44(a)	471443 XM_001141663.1 XP_001141663.1
cow (Bos taurus)	TERT¹	--	telomerase reverse transcriptase	77.71(n) 72.1(a)	518884 NM_001046242.1 NP_001039707.1
rat (Rattus norvegicus)	Tert¹	--	telomerase reverse transcriptase	70.69(n) 64.63(a)	301965 NM_053423.1 NP_445875.1
mouse (Mus musculus)	Tert⁵ Tert¹	13 (43.00 cM)⁵	telomerase reverse transcriptase^{1, 5}	70.97(n)¹ 64.53(a)¹	21752¹ NM_009354.1¹ NP_033380.1¹ AF029235⁵ AF051911⁵ (see all 12)

About this table Species with no ortholog for TERT

ENSEMBL Gene Tree for TERT

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/659 NCBI SNPs in TERT are shown (see all 659 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 233)

AB	SNP ID	Valid	Chr 5 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2853691^1,2	A,C,F,H	1305950(-)	`TGGCCA/GGGGTG`	2	--	ng5¹		9	EU EA WA NS	602
	rs2735940^1,2	A,C,F	1349486(-)	`CGACCT/CGTAAT`	2	--	ng3¹		10	MN CSAM EA NS	592
	rs2736109^1,2	A,C,F	1349759(-)	`TCAGCG/AATCTT`	2	--	ng3¹		10	MN CSAM EA NS	596
	rs5031049^1,2	C,F,H	1306780(-)	`CTCTAC/TGTCCC`	2	--	ut3¹ ese³		14	MN CSAM EA EU WA NS	1004
	rs7712562^1,2	C,F,H	1349072(+)	`GGGCAG/ACCTCG`	2	--	ng3¹		14	MN CSAM EA EU WA NS	908
	rs2853690^1,2	A,C,F	1306744(-)	`AGGCCC/TGCACC`	2	--	ut3¹ ese³		10	MN CSAM EA NS	588
	rs33985695^1,2	C,F	1349653(-)	`ATTGTG/ATTTTC`	2	--	ng3¹		10	MN CSAM EA NS	596
--	rs33987166^1,2	C,F	1349758(-)	`CAGCGA/GTCTTC`	2	--	ng3¹		10	MN CSAM EA NS	594
	rs33977403^1,2	C,F	1349727(-)	`TCCTCG/ACCATG`	2	--	ng3¹		10	MN CSAM EA NS	594
	rs33958877^1,2	C,F	1348682(-)	`ACGTCC/AGGCAT`	2	--	ng3¹		10	MN CSAM EA NS	572

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HapMap Linkage Disequilibrium images for TERT (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 187270 disorders: 609135 178500 127550

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746

Activation of telomerase has been implicated in cell immortalization and cancer cell

pathogenesis

Defects in TERT are associated with susceptibilty to aplastic anemia (AA) [MIM:609135]. AA

is a rare disease in which the reduction of the circulating blood cells results from damage to the

stem cell pool in bone marrow. In most patients, the stem cell lesion is caused by an autoimmune

attack. T-lymphocytes, activated by an endogenous or exogenous, and most often unknown antigenic

stimulus, secrete cytokines, including IFN-gamma, which would in turn be able to suppress

hematopoiesis

Genetic variations in TERT are associated with coronary artery disease (CAD)

Defects in TERT are a cause of dyskeratosis congenita autosomal dominant (ADDKC)

[MIM:127550]; also known as dyskeratosis congenita Scoggins type. ADDKC is a rare, progressive

bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation,

nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow

failure, infections, fatal pulmonary complications, or malignancy

Defects in TERT increases susceptibility to idiopathic pulmonary fibrosis [MIM:178500].

Idiopathic pulmonary fibrosis is an adult-onset, lethal, scarring lung disease of unknown

etiology. Its clinical features are shortness of breath, radiographically evident diffuse

pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on biopsy. It is

rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and

endstage lung disease

10/96 Novoseek disease relationships for TERT gene (see all 96 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dyskeratosis congenita	82.03	8	15885610 (2), 17454774 (1), 17468339 (1), 19415813 (1) (see all 8)
dyskeratosis congenita, autosomal dominant	78.82	6	16247010 (1), 17392301 (1), 18460650 (1), 17875000 (1) (see all 5)
cancer	72.85	190	11934015 (4), 14532739 (4), 11034071 (2), 12218171 (2) (see all 99)
tumors	69.18	226	10973321 (5), 17130181 (5), 18204433 (5), 17656250 (4) (see all 99)
hepatocellular carcinoma	56.00	28	18753050 (2), 11944954 (2), 15143919 (2), 17244456 (1) (see all 24)
laryngeal squamous cell carcinoma	55.36	12	17592663 (2), 17219990 (2), 15823813 (2), 11911285 (2) (see all 7)
benign meningioma	49.76	2	17227292 (1), 17415213 (1)
precancerous lesions	47.57	8	10429648 (2), 14716817 (2), 11906620 (1), 10779229 (1) (see all 5)
neoplastic transformation	44.48	4	11454711 (1), 10473565 (1), 17827040 (1)
anemia aplastic	42.64	12	15814878 (2), 15885610 (2), 17625368 (1), 17640862 (1) (see all 8)

About this table

GeneTests: TERT

Familial Pulmonary Fibrosis

Human Gene Mutation Database: TERT
Genetic Association Database: TERT
Human Genome Epidemiology Navigator: TERT (22 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

100/1072 PubMed articles for TERT gene (see all 1072 ):

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878)^{1, 3, 4, 6} Yamaguchi H.... Young N.S. (2005)
Telomerase catalytic subunit homologs from fission yeast and human. (PubMed id 9252327)^{2, 3, 4} Nakamura T.M.... Cech T.R. (1997)
Adult-onset pulmonary fibrosis caused by mutations in telomerase. (PubMed id 17460043)^{1, 3, 4} Tsakiri K.D.... Garcia C.K. (2007)
Human telomerase contains evolutionarily conserved catalytic and structural subunits. (PubMed id 9389643)^{1, 3, 4} Harrington L.... Robinson M.O. (1997)
hEST2, the putative human telomerase catalytic subunit gene, is up- regulated in tumor cells and during immortalization. (PubMed id 9288757)^{1, 3, 4} Meyerson M.... Weinberg R.A. (1997)
Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220)^{3, 4} Nousiainen M.... Koerner R. (2006)
Coronary artery disease and a functional polymorphism of hTERT. (PubMed id 16890917)^{3, 4} Matsubara Y.... Ikeda Y. (2006)
Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. (PubMed id 16094384)^{3, 4} Tao W.A.... Aebersold R. (2005)
Differential alternative splicing expressions of telomerase reverse transcriptase in gastrointestinal cell lines. (PubMed id 14654914)^{3, 4} Nagao K.... Hisatomi H. (2004)
Human MCRS2, a cell-cycle-dependent protein, associates with LPTS/PinX1 and reduces the telomere length. (PubMed id 15044100)^{3, 4} Song H....Zhao M. (2004)
Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT). (PubMed id 10333526)^{3, 4} Wick M.... Hagen G. (1999)
Transforming growth factor beta suppresses human telomerase reverse transcriptase (hTERT) by Smad3 interactions with c-Myc and the hTERT gene. (PubMed id 16785237)^{1, 3} Li H....Liu J.P. (2006)
MYC amplification and TERT expression in breast tumor progression. (PubMed id 17656250)^{1, 3} Bodvarsdottir S.K....Eyfjord J.E. (2007)
TERT suppresses apoptotis at a premitochondrial step by a mechanism requiring reverse transcriptase activity and 14-3-3 protein-binding ability. (PubMed id 12594176)^{1, 3} Zhang P....Mattson M.P. (2003)
Direct activation of TERT transcription by c-MYC. (PubMed id 9988278)^{1, 3} Wu K.J.... Dalla-Favera R. (1999)
Nucleolar localization of TERT is unrelated to telomerase function in human cells. (PubMed id 18522991)^{1, 3} Lin J....Huang J.J. (2008)
Brm transactivates the telomerase reverse transcriptase (TERT) gene and modulates the splicing patterns of its transcripts in concert with p54(nrb). (PubMed id 18042045)^{1, 3} Ito T....Iba H. (2008)
Expression of TERT in early premalignant lesions and a subset of cells in normal tissues. (PubMed id 9620778)^{1, 3} Kolquist K.A....Gerald W.L. (1998)
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (PubMed id 18931339)^{1, 3} Du H.Y....Bessler M. (2008)
Distribution and prognostic significance of human telomerase reverse transcriptase (hTERT) expression in giant-cell tumor of bone. (PubMed id 18204433)^{1, 3} Horvai A.E....O'Donnell R.J. (2008)
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. (PubMed id 15885610)^{1, 3} Vulliamy T.J....Dokal I. (2005)
A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer. (PubMed id 19380022)^{1, 3} Varadi V....FAPrsti A. (2009)
Human telomerase reverse transcriptase (hTERT) expression in borderline ovarian tumors: an immunohistochemical study. (PubMed id 19301721)^{1, 3} Tantbirojn P....Niruthisard S. (2009)
Inositol hexaphosphate represses telomerase activity and translocates TERT from the nucleus in mouse and human prostate cancer cells via the deactivation of Akt and PKCalpha. (PubMed id 16979586)^{1, 3} Jagadeesh S. and Banerjee P.P. (2006)
Enhanced antitumor effect against human telomerase reverse transcriptase (hTERT) by vaccination with chemotactic-hTERT gene-modified tumor cell and the combination with anti-4-1BB monoclonal antibodies. (PubMed id 16708388)^{1, 3} Lin X....Zhang S. (2006)
Testicular expression of survivin and human telomerase reverse transcriptase (hTERT) associated with spermatogenic function in infertile patients. (PubMed id 16372125)^{1, 3} Weikert S....Schrader M. (2006)
Regulation of the hTERT promoter activity by MSH2, the hnRNPs K and D, and GRHL2 in human oral squamous cell carcinoma cells. (PubMed id 19015635)^{1, 3} Kang X....Park N.H. (2009)
A tandem repeat of human telomerase reverse transcriptase (hTERT) and risk of breast cancer development and metastasis in Chinese women. (PubMed id 18413362)^{1, 3} Wang Y....Shen H. (2008)
The evaluation of hTERT mRNA expression in acute leukemia children and 2 years follow-up of 40 cases. (PubMed id 18293058)^{1, 3} Cogulu O....Ozkinay F. (2008)
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. (PubMed id 18460650)^{1, 3} Basel-Vanagaite L....Vulliamy T. (2008)
Antisense-mediated inhibition of survivin, hTERT and VEGF in bladder cancer cells in vitro and in vivo. (PubMed id 18425331)^{1, 3} Kunze D....Wirth M.P. (2008)
Effect of blocking VEGF, hTERT and Bcl-xl by multiple shRNA expression vectors on the human laryngeal squamous carcinoma xenograft in nude mice. (PubMed id 18285708)^{1, 3} Chen S.M....Tao Z.Z. (2008)
Relationship between tumor and plasma levels of hTERT mRNA in patients with colorectal cancer: implications for monitoring of neoplastic disease. (PubMed id 19010861)^{1, 3} Terrin L....De Rossi A. (2008)
Real-time PCR quantification of human telomerase reverse transcriptase (hTERT) in colorectal cancer. (PubMed id 18038311)^{1, 3} Saleh S....Ho Y.H. (2008)
Activation of the hTERT expression in squamous cell cervical carcinoma is not associated with gene amplification. (PubMed id 18636213)^{1, 3} Anedchenko E....Senchenko V. (2008)
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. (PubMed id 18835860)^{1, 3} Mushiroda T....Nakamura Y. (2008)
Development of recombinant adeno-associated virus and adenovirus cocktail system for efficient hTERTC27 polypeptide-mediated cancer gene therapy. (PubMed id 18535618)^{1, 3} Gao Y....Lin M.C. (2008)
Lysine-specific demethylase 1 (LSD1) Is required for the transcriptional repression of the telomerase reverse transcriptase (hTERT) gene. (PubMed id 18197256)^{1, 3} Zhu Q....Xu D. (2008)
Human telomerase reverse transcriptase (hTERT) extends the lifespan of canine chondrocytes in vitro without inducing neoplastic transformation. (PubMed id 17827040)^{1, 3} Nicholson I.P....Bennett D. (2007)
HTLV-1 HBZ cooperates with JunD to enhance transcription of the human telomerase reverse transcriptase gene (hTERT). (PubMed id 18078517)^{1, 3} Kuhlmann A.S....Duc Dodon M. (2007)
Efficient immortalization of primary human cells by p16INK4a-specific short hairpin RNA or Bmi-1, combined with introduction of hTERT. (PubMed id 17233832)^{1, 3} Haga K....Kiyono T. (2007)
Upregulation of telomerase (hTERT) is related to the grade of cervical intraepithelial neoplasia, but is not an independent predictor of high-risk human papillomavirus, virus persistence, or disease outcome in cervical cancer. (PubMed id 17041957)^{1, 3} Branca M....Syrjanen K. (2006)
Expression of p16 and hTERT protein is associated with the presence of high-risk human papillomavirus in Bowenoid papulosis. (PubMed id 16919029)^{1, 3} Liu H....Tu Y. (2006)
Expression of hTERT immortalises normal human urothelial cells without inactivation of the p16/Rb pathway. (PubMed id 16619045)^{1, 3} Chapman E.J....Knowles M.A. (2006)
Circulating hTERT mRNA as a tumor marker in cholangiocarcinoma patients. (PubMed id 16830373)^{1, 3} Leelawat K....Tepaksorn P. (2006)
The hTERT-protein and Ki-67 labelling index in recurrent and non-recurrent meningiomas. (PubMed id 15679862)^{1, 3} Maes L....de Ridder L. (2005)
Upstream stimulatory factor (USF) as a transcriptional suppressor of human telomerase reverse transcriptase (hTERT) in oral cancer cells. (PubMed id 16010690)^{1, 3} Chang J.T....Cheng A.J. (2005)
Telomerase activity in thyroid neoplasms evaluated by the expression of human telomerase reverse transcriptase (hTERT). (PubMed id 15816620)^{1, 3} Ito Y....Miyauchi A. (2005)
hTERT antagonizes p53-induced apoptosis independently of telomerase activity. (PubMed id 15608686)^{1, 3} Rahman R....Wiman K.G. (2005)
Differential cis-regulation of human versus mouse TERT gene expression in vivo: identification of a human-specific repressive element. (PubMed id 16344462)^{1, 3} Horikawa I....Barrett J.C. (2005)
C-terminal p73 isoforms repress transcriptional activity of the human telomerase reverse transcriptase (hTERT) promoter. (PubMed id 16234237)^{1, 3} Racek T....Putzer B.M. (2005)
Characterization of interactions between PinX1 and human telomerase subunits hTERT and hTR. (PubMed id 15381700)^{1, 3} Banik S.S. and Counter C.M. (2004)
[Proliferation and hTERT expression in neuroblastoma] (PubMed id 15168079)^{1, 3} Krams M....Harms D. (2004)
Adenovirus-mediated suicide gene therapy using the human telomerase catalytic subunit (hTERT) gene promoter induced apoptosis of ovarian cancer cell line. (PubMed id 14646192)^{1, 3} Song J.S....Kim Y.T. (2003)
Opposing regulatory roles of E2F in human telomerase reverse transcriptase (hTERT) gene expression in human tumor and normal somatic cells. (PubMed id 12368233)^{1, 3} Won J....Kim T.K. (2002)
Amplification of the telomerase reverse transcriptase (hTERT) gene in cervical carcinomas. (PubMed id 12007187)^{1, 3} Zhang A....Xu D. (2002)
Telomere dysfunction and telomerase reactivation in human leukemia cell lines after telomerase inhibition by the expression of a dominant-negative hTERT mutant. (PubMed id 12447689)^{1, 3} Delhommeau F....Bennaceur-Griscelli A. (2002)
Sp1 and Sp3 recruit histone deacetylase to repress transcription of human telomerase reverse transcriptase (hTERT) promoter in normal human somatic cells. (PubMed id 12151407)^{1, 3} Won J....Kim T.K. (2002)
Cloning of human telomerase catalytic subunit (hTERT) gene promoter and identification of proximal core promoter sequences essential for transcriptional activation in immortalized and cancer cells. (PubMed id 9973199)^{1, 3} Takakura M....Inoue M. (1999)
Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1. (PubMed id 19209236)³ Casalbore P....Pallini R. (2009)
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. (PubMed id 19151717)³ Rafnar T....Stefansson K. (2009)
A novel function of colony-stimulating factor 1 receptor in hTERT immortalization of human epithelial cells. (PubMed id 18997822)³ Li N.F....Balkwill F. (2009)
Effects of hTERT on genomic instability caused by either metal or radiation or combined exposure. (PubMed id 18776173)³ Glaviano A....Lyng F. (2009)
Differential hTERT mRNA processing between young and older glioma patients. (PubMed id 18435920)³ Shervington A. and Patel R. (2008)
The expression levels of telomerase catalytic subunit hTERT and oncogenic MYC in essential thrombocythemia are affected by the molecular subtype. (PubMed id 18084761)³ Theophile K....Bock O. (2008)
Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53. (PubMed id 18843043)³ Kudlow B.A....Kennedy B.K. (2008)
Central role of PI3K in transcriptional activation of hTERT in HTLV-I-infected cells. (PubMed id 18511807)³ Bellon M. and Nicot C. (2008)
Ets2 maintains hTERT gene expression and breast cancer cell proliferation by interacting with c-Myc. (PubMed id 18586674)³ Xu D....Liu J.P. (2008)
Wild-type but not mutant androgen receptor inhibits expression of the hTERT telomerase subunit: a novel role of AR mutation for prostate cancer development. (PubMed id 17991730)³ Moehren U....Baniahmad A. (2008)
Expression of the full-length telomerase reverse transcriptase (hTERT) transcript in both malignant and normal gastric tissues. (PubMed id 18037230)³ Li W....Xu D. (2008)
Suppression of hPOT1 in diploid human cells results in an hTERT-dependent alteration of telomere length dynamics. (PubMed id 18922974)³ Possemato R....Hahn W.C. (2008)
Association of hsp90 to the hTERT promoter is necessary for hTERT expression in human oral cancer cells. (PubMed id 18820283)³ Kim R.H....Kang M.K. (2008)
Evidence that senescent human prostate epithelial cells enhance tumorigenicity: cell fusion as a potential mechanism and inhibition by p16INK4a and hTERT. (PubMed id 18059027)³ Bhatia B....Tang D.G. (2008)
hTERT-targeted RNA interference inhibits tumorigenicity and motility of HCT116 cells. (PubMed id 18059183)³ Shen Y....Ding J. (2008)
TERT promotes cellular and organismal survival independently of telomerase activity. (PubMed id 18223679)³ Lee J....Lee H.W. (2008)
Binding of human papillomavirus type 16 E6 to E6AP is not required for activation of hTERT. (PubMed id 17942561)³ Sekaric P....Androphy E.J. (2008)
Cytoplasmic expression of human telomerase catalytic protein (hTERT) in neutrophils: an immunoelectron microscopy study. (PubMed id 18958789)³ Lepreux S....Martin-Negrier M.L. (2008)
Latent membrane protein 1 of Epstein-Barr virus activates the hTERT promoter and enhances telomerase activity in B lymphocytes. (PubMed id 18684838)³ Terrin L....De Rossi A. (2008)
Functional genomics of hTERT gene in leukemic myelopoiesis. (PubMed id 18409031)³ Kaul D....Ahlawat A. (2008)
Quantification of hTERT splice variants in melanoma by SYBR green real-time polymerase chain reaction indicates a negative regulatory role for the beta deletion variant. (PubMed id 18813352)³ Lincz L.F....Seldon M. (2008)
Quantitative analysis of hTERT mRNA levels in cells microdissected from cytological specimens. (PubMed id 18795940)³ Fujita H....Tanaka M. (2008)
Prognostic relevance of hTERT mRNA expression in ductal adenocarcinoma of the pancreas. (PubMed id 18714398)³ Grochola L.F....WA1rl P. (2008)
NFX1 interacts with mSin3A/histone deacetylase to repress hTERT transcription in keratinocytes. (PubMed id 18505829)³ Xu M....Galloway D.A. (2008)
siRNA-mediated inhibition of hTERT enhances chemosensitivity of hepatocellular carcinoma. (PubMed id 18708758)³ Guo X....Wei L. (2008)
Cell-restricted immortalization by human papillomavirus correlates with telomerase activation and engagement of the hTERT promoter by Myc. (PubMed id 18818322)³ Liu X....Schlegel R. (2008)
Detection of hTERT mRNA in gastrointestinal tract cancer specimens. (PubMed id 18564721)³ Udomchaiprasertkul W....Leelawat K. (2008)
Establishment of immortalized human hepatocytes by introduction of HPV16 E6/E7 and hTERT as cell sources for liver cell-based therapy. (PubMed id 19177844)³ Tsuruga Y....Todo S. (2008)
Mesenchymal stem cells from Chinese Guizhou minipig by hTERT gene transfection. (PubMed id 18374125)³ Wei L.L....Lu Y.R. (2008)
The multi-step process of human skin carcinogenesis: a role for p53, cyclin D1, hTERT, p16, and TSP-1. (PubMed id 17198740)³ Burnworth B....Boukamp P. (2007)
The functional interplay between EGFR overexpression, hTERT activation, and p53 mutation in esophageal epithelial cells with activation of stromal fibroblasts induces tumor development, invasion, and differentiation. (PubMed id 17974918)³ Okawa T....Rustgi A.K. (2007)
Analysis of hTERT expression in exfoliated cells from patients with bladder transitional cell carcinomas using SYBR green real-time fluorescence quantitative PCR. (PubMed id 17961306)³ Xie X.Y....Liu Z.J. (2007)
Immortalization and characterization of pleomorphic adenoma cells by transfection with the hTERT gene. (PubMed id 17611690)³ Kitagawa M....Takata T. (2007)
Human normal T lymphocytes and lymphoid cell lines do express alternative splicing variants of human telomerase reverse transcriptase (hTERT) mRNA. (PubMed id 17204238)³ Jalink M....Xu D. (2007)
p53 and hTERT determine sensitivity to viral apoptosis. (PubMed id 17855516)³ Nguyen M.L....Blaho J.A. (2007)
Evidence of extra-telomeric effects of hTERT and its regulation involving a feedback loop. (PubMed id 17134697)³ Lai S.R....Tollefsbol T.O. (2007)
Site-specific methylation of CpG nucleotides in the hTERT promoter region can control the expression of hTERT during malignant progression of colorectal carcinoma. (PubMed id 17673177)³ Choi J.H....Park A.J. (2007)
Telomere length, telomerase activity, and expressions of human telomerase mRNA component (hTERC) and human telomerase reverse transcriptase (hTERT) mRNA in pulmonary neuroendocrine tumors. (PubMed id 17060405)³ Nishio Y....Kawai T. (2007)
hTERT inhibits the Epstein-Barr virus lytic cycle and promotes the proliferation of primary B lymphocytes: implications for EBV-driven lymphomagenesis. (PubMed id 17417773)³ Terrin L....De Rossi A. (2007)
Ectopically hTERT expressing adult human mesenchymal stem cells are less radiosensitive than their telomerase negative counterpart. (PubMed id 17274981)³ Serakinci N....Kolvraa S. (2007)
Oct-4, Rex-1, and Gata-4 expression in human MSC increase the differentiation efficiency but not hTERT expression. (PubMed id 17211834)³ Roche S....Favrot M.C. (2007)

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Entrez Gene: 7015	HGNC: 11730	AceView: TERT	Ensembl:ENSG00000164362	euGenes: HUgn7015
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TERT Gene

protein-coding GIFtS: 71

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TERT Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor TERT

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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