Details for: TERF2

Gene ID: 7014

Symbol: TERF2

Ensembl ID: ENSG00000132604

Description: telomeric repeat binding factor 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.18
    Marker Score: 72867
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.14
    Marker Score: 3379
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.13
    Marker Score: 11645
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.08
    Marker Score: 41174
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.08
    Marker Score: 10274
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.07
    Marker Score: 529
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.06
    Marker Score: 4104
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.06
    Marker Score: 4317
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.05
    Marker Score: 8040.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.04
    Marker Score: 8944
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.01
    Marker Score: 15170
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.01
    Marker Score: 10206
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71729
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47954
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.99
    Marker Score: 1525
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.99
    Marker Score: 9289
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30398
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.98
    Marker Score: 15300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.95
    Marker Score: 20381
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2401
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.91
    Marker Score: 618
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.91
    Marker Score: 285
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.91
    Marker Score: 3765
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2710
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.89
    Marker Score: 32779
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.87
    Marker Score: 17258
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4893
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 306
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.84
    Marker Score: 1970
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.82
    Marker Score: 966
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.76
    Marker Score: 537
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 577
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 300
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.74
    Marker Score: 846
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.72
    Marker Score: 709
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2985
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.71
    Marker Score: 2961
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.71
    Marker Score: 228
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.71
    Marker Score: 425
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.69
    Marker Score: 1207
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.69
    Marker Score: 1871
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.67
    Marker Score: 459
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.67
    Marker Score: 708
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.67
    Marker Score: 1637
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.66
    Marker Score: 606
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.66
    Marker Score: 2768.5
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.66
    Marker Score: 324
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.66
    Marker Score: 700
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.65
    Marker Score: 560
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.64
    Marker Score: 687
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.63
    Marker Score: 934
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.62
    Marker Score: 747
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.62
    Marker Score: 419
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.61
    Marker Score: 213
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.61
    Marker Score: 366
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.6
    Marker Score: 1221
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.6
    Marker Score: 462
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.6
    Marker Score: 574.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.59
    Marker Score: 1190
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.58
    Marker Score: 1331.5
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.58
    Marker Score: 249
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.58
    Marker Score: 2132.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.57
    Marker Score: 629
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.56
    Marker Score: 489
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.56
    Marker Score: 335
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.56
    Marker Score: 368
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.55
    Marker Score: 190
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.55
    Marker Score: 18564
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.54
    Marker Score: 3273
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.54
    Marker Score: 1191
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.54
    Marker Score: 158
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.54
    Marker Score: 1029.5
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.53
    Marker Score: 9458
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.53
    Marker Score: 552
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.53
    Marker Score: 538
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 0.53
    Marker Score: 320
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 336
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.52
    Marker Score: 481
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.52
    Marker Score: 120
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.52
    Marker Score: 184
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.51
    Marker Score: 271
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.51
    Marker Score: 248
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.51
    Marker Score: 1014.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.51
    Marker Score: 718
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.5
    Marker Score: 121
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.5
    Marker Score: 133
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.5
    Marker Score: 112
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.5
    Marker Score: 341
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.5
    Marker Score: 203.5
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5
    Marker Score: 17209
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.5
    Marker Score: 1188
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.5
    Marker Score: 485
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.5
    Marker Score: 112

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Other Information

**Key Characteristics:** TERF2 is a highly conserved protein that belongs to the telomeric repeat-binding factor (TRF) family. It is characterized by its ability to bind to G-rich telomeric DNA sequences and regulate telomere length through its interaction with telomerase and other telomere-associated proteins. TERF2 is predominantly expressed in somatic cells, including neurons, B cells, and other cell types involved in immune responses. **Pathways and Functions:** TERF2 is involved in several cellular processes, including: 1. **Telomere maintenance:** TERF2 regulates telomere length by inhibiting telomerase activity and preventing excessive telomere lengthening. 2. **DNA repair:** TERF2 interacts with DNA glycosylases to recognize and repair damaged bases, thereby maintaining genomic integrity. 3. **Cellular senescence:** TERF2 promotes cellular senescence by regulating the expression of genes involved in this process. 4. **Axonal transport:** TERF2 is involved in the regulation of axonal transport, ensuring the proper transport of proteins and RNAs along axons. 5. **Cellular responses to stimuli:** TERF2 regulates cellular responses to various stimuli, including DNA damage and oxidative stress. **Clinical Significance:** Dysregulation of TERF2 has been implicated in various diseases, including: 1. **Cancer:** TERF2 mutations have been linked to an increased risk of certain cancers, such as breast and ovarian cancer. 2. **Neurodegenerative diseases:** TERF2 dysregulation has been implicated in neurodegenerative diseases, such as Alzheimer's and Parkinson's disease. 3. **Telomere-related disorders:** TERF2 mutations can cause telomere-related disorders, such as premature aging and telomere shortening syndromes. In conclusion, TERF2 is a critical protein involved in maintaining telomere integrity and regulating cellular homeostasis. Its dysregulation has significant clinical implications, highlighting the importance of further research into the role of TERF2 in human disease. **Future Directions:** 1. **Investigating the molecular mechanisms of TERF2 regulation:** Further studies are needed to elucidate the molecular mechanisms underlying TERF2 regulation and its interactions with other proteins. 2. **Developing therapeutic strategies:** Targeting TERF2 or its regulatory pathways may provide a novel therapeutic approach for treating diseases associated with dysregulated TERF2 activity. 3. **Understanding the clinical implications of TERF2 mutations:** Further research is necessary to fully understand the clinical implications of TERF2 mutations and their role in human disease.

Genular Protein ID: 694837204

Symbol: TERF2_HUMAN

Name: Telomeric repeat-binding factor 2

UniProtKB Accession Codes:

Q15554

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CORUM 1 CPTAC 3 CPTC 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 5 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 44 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 24 PDBsum 15 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 14 RefSeq 1 SAM 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9326950

Title: Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2.

PubMed ID: 9326950

DOI: 10.1038/ng1097-231

PubMed ID: 9326951

Title: Telomeric localization of TRF2, a novel human telobox protein.

PubMed ID: 9326951

DOI: 10.1038/ng1097-236

PubMed ID: 8614633

Title: The telobox, a Myb-related telomeric DNA binding motif found in proteins from yeast, plants and human.

PubMed ID: 8614633

DOI: 10.1093/nar/24.7.1294

PubMed ID: 9476899

Title: TRF2 protects human telomeres from end-to-end fusions.

PubMed ID: 9476899

DOI: 10.1016/s0092-8674(00)80932-0

PubMed ID: 10888888

Title: Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres.

PubMed ID: 10888888

DOI: 10.1038/77139

PubMed ID: 15316005

Title: TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.

PubMed ID: 15316005

DOI: 10.1074/jbc.m409047200

PubMed ID: 15383534

Title: Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.

PubMed ID: 15383534

DOI: 10.1074/jbc.m409293200

PubMed ID: 16166375

Title: Shelterin: the protein complex that shapes and safeguards human telomeres.

PubMed ID: 16166375

DOI: 10.1101/gad.1346005

PubMed ID: 16223874

Title: DNA damage-induced phosphorylation of the human telomere-associated protein TRF2.

PubMed ID: 16223874

DOI: 10.1073/pnas.0507915102

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16730176

Title: Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase.

PubMed ID: 16730176

DOI: 10.1016/j.cub.2006.05.022

PubMed ID: 16730175

Title: The Apollo 5' exonuclease functions together with TRF2 to protect telomeres from DNA repair.

PubMed ID: 16730175

DOI: 10.1016/j.cub.2006.05.021

PubMed ID: 16606622

Title: hSnm1B is a novel telomere-associated protein.

PubMed ID: 16606622

DOI: 10.1074/jbc.c600038200

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 18468965

Title: Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.

PubMed ID: 18468965

DOI: 10.1016/j.dnarep.2008.03.020

PubMed ID: 18593705

Title: The protein hSnm1B is stabilized when bound to the telomere-binding protein TRF2.

PubMed ID: 18593705

DOI: 10.1074/jbc.m800388200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19596235

Title: Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.

PubMed ID: 19596235

DOI: 10.1016/j.cell.2009.06.030

PubMed ID: 19596784

Title: Arginine methylation regulates telomere length and stability.

PubMed ID: 19596784

DOI: 10.1128/mcb.00009-09

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20655466

Title: TRF2 and Apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage.

PubMed ID: 20655466

DOI: 10.1016/j.cell.2010.05.032

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 11545737

Title: Structure of the TRFH dimerization domain of the human telomeric proteins TRF1 and TRF2.

PubMed ID: 11545737

DOI: 10.1016/s1097-2765(01)00321-5

PubMed ID: 15608617

Title: How the human telomeric proteins TRF1 and TRF2 recognize telomeric DNA: a view from high-resolution crystal structures.

PubMed ID: 15608617

DOI: 10.1038/sj.embor.7400314

PubMed ID: 18202258

Title: A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins.

PubMed ID: 18202258

DOI: 10.1126/science.1151804

Sequence Information:

  • Length: 542
  • Mass: 59594
  • Checksum: 3A278AC6B594C43A
  • Sequence:
    • MAAGAGTAGP ASGPGVVRDP AASQPRKRPG REGGEGARRS DTMAGGGGSS DGSGRAAGRR 
ASRSSGRARR GRHEPGLGGP AERGAGEARL EEAVNRWVLK FYFHEALRAF RGSRYGDFRQ 
IRDIMQALLV RPLGKEHTVS RLLRVMQCLS RIEEGENLDC SFDMEAELTP LESAINVLEM 
IKTEFTLTEA VVESSRKLVK EAAVIICIKN KEFEKASKIL KKHMSKDPTT QKLRNDLLNI 
IREKNLAHPV IQNFSYETFQ QKMLRFLESH LDDAEPYLLT MAKKALKSES AASSTGKEDK 
QPAPGPVEKP PREPARQLRN PPTTIGMMTL KAAFKTLSGA QDSEAAFAKL DQKDLVLPTQ 
ALPASPALKN KRPRKDENES SAPADGEGGS ELQPKNKRMT ISRLVLEEDS QSTEPSAGLN 
SSQEAASAPP SKPTVLNQPL PGEKNPKVPK GKWNSSNGVE EKETWVEEDE LFQVQAAPDE 
DSTTNITKKQ KWTVEESEWV KAGVQKYGEG NWAAISKNYP FVNRTAVMIK DRWRTMKRLG 
MN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.