Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TELO2 Gene

Aliases for TELO2 Gene

  • Telomere Maintenance 2 2 3 5
  • Protein Clk-2 Homolog 3 4
  • TEL2, Telomere Maintenance 2, Homolog (S. Cerevisiae) 2
  • Telomere Length Regulation Protein TEL2 Homolog 3
  • TEL2, Telomere Maintenance 2, Homolog 3
  • EC 1.1.1.27 61
  • EC 2.7.11.1 61
  • KIAA0683 4
  • HCLK2 4
  • TEL2 3
  • CLK2 3
  • YHFS 3

External Ids for TELO2 Gene

Previous GeneCards Identifiers for TELO2 Gene

  • GC16P001484
  • GC16P001485
  • GC16P001543
  • GC16P001473

Summaries for TELO2 Gene

Entrez Gene Summary for TELO2 Gene

  • This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]

GeneCards Summary for TELO2 Gene

TELO2 (Telomere Maintenance 2) is a Protein Coding gene. Diseases associated with TELO2 include You-Hoover-Fong Syndrome and Seckel Syndrome 1. Among its related pathways are mTOR signaling pathway (KEGG) and Fanconi anemia pathway. GO annotations related to this gene include binding and protein complex scaffold.

UniProtKB/Swiss-Prot for TELO2 Gene

  • Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation.

Gene Wiki entry for TELO2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TELO2 Gene

Genomics for TELO2 Gene

Regulatory Elements for TELO2 Gene

Enhancers for TELO2 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
GH16F001509 0.5 ENCODE 28.3 +16.5 16543 1.5 ZNF316 SAP130 ZNF623 EMSY MAFK NR2F2 TELO2 IFT140 HN1L ENSG00000260646 GC16P001504
GH16F001511 0.2 Ensembl 27.8 +19.1 19084 1.5 CTCF L3MBTL2 POLR2A MAX ZBTB33 SUPT5H NR2F2 TELO2 IFT140 PTX4 RPS3AP2 CLCN7 CCDC154 ENSG00000260646 GC16P001504
GH16F001540 1.1 Ensembl ENCODE 25.7 +52.8 52773 10.2 ELF3 MLX KLF17 FEZF1 RAD21 SLC30A9 ZNF121 SCRT2 CEBPB NR2F2 TMEM204 IFT140 TELO2 HN1L EME2 CRAMP1 ENSG00000226890 PTX4 CCDC154 HAGH
GH16F001530 1.2 FANTOM5 Ensembl ENCODE 20.8 +41.9 41880 10.0 CTCF LEF1 MAX ZIC2 ZNF2 RAD21 GATA3 ZFHX2 POLR2A TCF7L2 TMEM204 TELO2 FAHD1 PTX4 IFT140 CCDC154 NME3 TSR3 FBXL16 CLCN7
GH16F001525 1.2 Ensembl ENCODE 20.6 +34.0 33957 3.4 ZSCAN5A PKNOX1 SUZ12 ARNT TAL1 ZNF76 DEAF1 MAX ZFHX2 GATAD1 TMEM204 TELO2 PTX4 CCDC154 HN1L GC16M001518
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TELO2 on UCSC Golden Path with GeneCards custom track

Promoters for TELO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147529 456 1601 HDGF CREB3L1 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 KLF13 ZNF263 SP3

Genomic Location for TELO2 Gene

Chromosome:
16
Start:
1,493,344 bp from pter
End:
1,510,459 bp from pter
Size:
17,116 bases
Orientation:
Plus strand

Genomic View for TELO2 Gene

Genes around TELO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TELO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TELO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TELO2 Gene

Proteins for TELO2 Gene

  • Protein details for TELO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4R8-TELO2_HUMAN
    Recommended name:
    Telomere length regulation protein TEL2 homolog
    Protein Accession:
    Q9Y4R8
    Secondary Accessions:
    • D3DU73
    • O75168
    • Q7LDV4
    • Q9BR21

    Protein attributes for TELO2 Gene

    Size:
    837 amino acids
    Molecular mass:
    91747 Da
    Quaternary structure:
    • Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with ATM, ATR, MTOR, PRKDC, RUVBL2, TTI1, TTI2, SMG1 and TRRAP. Component of the mTORC1 and mTORC2 complexes. Interacts (phosphorylated form) with PIH1D1 which mediates interaction of TELO2 with the R2TP complex composed of RUVBL1, RUVBL2, PIH1D1, and RPAP3 (PubMed:20864032, PubMed:24656813).
    Miscellaneous:
    • Cells overexpressing TELO2 are hypersensitive to hydroxyurea (HU) and undergo apoptotic death in response to treatment with HU.
    SequenceCaution:
    • Sequence=BAA31658.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TELO2 Gene

neXtProt entry for TELO2 Gene

Selected DME Specific Peptides for TELO2 Gene

Post-translational modifications for TELO2 Gene

  • Hydroxylation by PHD3 is required for a proper interaction with ATR, and activation of the ATR/CHK1/p53 pathway following DNA damage.
  • Phosphorylated at Ser-485 by CK2 following growth factor deprivation, leading to its subsequent ubiquitination by the SCF(FBXO9) complex. Phosphorylation by CK2 only takes place when TELO2 is bound to mTORC1, not mTORC2; leading to selective ubiquitination of mTORC1-associated protein.
  • Ubiquitinated by the SCF(FBXO9) complex following phosphorylation by CK2 in response to growth factor deprivation, leading to its degradation by the proteasome. Only mTORC1-associated protein is ubiquitinated and degraded, leading to selective inactivation of mTORC1 to restrain cell growth and protein translation, while mTORC2 is activated due to the relief of feedback inhibition by mTORC1.
  • Ubiquitination at Lys 36, Lys 51, Lys 159, and Lys 392
  • Modification sites at PhosphoSitePlus

Domains & Families for TELO2 Gene

Gene Families for TELO2 Gene

Protein Domains for TELO2 Gene

Suggested Antigen Peptide Sequences for TELO2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4R8

UniProtKB/Swiss-Prot:

TELO2_HUMAN :
  • Belongs to the TEL2 family.
Family:
  • Belongs to the TEL2 family.
genes like me logo Genes that share domains with TELO2: view

Function for TELO2 Gene

Molecular function for TELO2 Gene

UniProtKB/Swiss-Prot Function:
Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation.

Enzyme Numbers (IUBMB) for TELO2 Gene

Gene Ontology (GO) - Molecular Function for TELO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18160036
GO:0019901 protein kinase binding IPI 20864032
GO:0032403 protein complex binding IDA 20864032
GO:0032947 protein complex scaffold IEA --
GO:0051879 Hsp90 protein binding IPI 20864032
genes like me logo Genes that share ontologies with TELO2: view
genes like me logo Genes that share phenotypes with TELO2: view

Animal Models for TELO2 Gene

MGI Knock Outs for TELO2:

Animal Model Products

miRNA for TELO2 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TELO2

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TELO2 Gene

Localization for TELO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TELO2 Gene

Cytoplasm. Membrane. Nucleus. Chromosome, telomere.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TELO2 Gene COMPARTMENTS Subcellular localization image for TELO2 gene
Compartment Confidence
nucleus 5
cytosol 3
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TELO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0005622 intracellular IDA --
GO:0005634 nucleus IEA,IDA 20864032
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA,IDA 20864032
genes like me logo Genes that share ontologies with TELO2: view

Pathways & Interactions for TELO2 Gene

genes like me logo Genes that share pathways with TELO2: view

Pathways by source for TELO2 Gene

2 KEGG pathways for TELO2 Gene

SIGNOR curated interactions for TELO2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TELO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032006 regulation of TOR signaling IMP 23263282
GO:0050821 protein stabilization IMP 24036451
GO:0071902 positive regulation of protein serine/threonine kinase activity IMP 24036451
GO:1904263 positive regulation of TORC1 signaling IMP 24036451
GO:1904515 positive regulation of TORC2 signaling IMP 24036451
genes like me logo Genes that share ontologies with TELO2: view

Transcripts for TELO2 Gene

Unigene Clusters for TELO2 Gene

TEL2, telomere maintenance 2, homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TELO2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TELO2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a ·
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7: - -
SP8: -
SP9:
SP10: -

ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for TELO2 Gene

GeneLoc Exon Structure for
TELO2
ECgene alternative splicing isoforms for
TELO2

Expression for TELO2 Gene

mRNA expression in normal human tissues for TELO2 Gene

Protein differential expression in normal tissues from HIPED for TELO2 Gene

This gene is overexpressed in Bone (59.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TELO2 Gene



Protein tissue co-expression partners for TELO2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TELO2 Gene:

TELO2

SOURCE GeneReport for Unigene cluster for TELO2 Gene:

Hs.271044
genes like me logo Genes that share expression patterns with TELO2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TELO2 Gene

Orthologs for TELO2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TELO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TELO2 34 35
  • 98.56 (n)
cow
(Bos Taurus)
Mammalia TELO2 34 35
  • 81.66 (n)
dog
(Canis familiaris)
Mammalia TELO2 34 35
  • 80.13 (n)
mouse
(Mus musculus)
Mammalia Telo2 34 16 35
  • 78.89 (n)
rat
(Rattus norvegicus)
Mammalia Telo2 34
  • 78.82 (n)
oppossum
(Monodelphis domestica)
Mammalia TELO2 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 59 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves TELO2 34 35
  • 65.98 (n)
lizard
(Anolis carolinensis)
Reptilia TELO2 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia telo2 34
  • 56.07 (n)
zebrafish
(Danio rerio)
Actinopterygii telo2 34 35
  • 54.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10836 35
  • 24 (a)
OneToOne
Species where no ortholog for TELO2 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TELO2 Gene

ENSEMBL:
Gene Tree for TELO2 (if available)
TreeFam:
Gene Tree for TELO2 (if available)

Paralogs for TELO2 Gene

No data available for Paralogs for TELO2 Gene

Variants for TELO2 Gene

Sequence variations from dbSNP and Humsavar for TELO2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs202020308 You-Hoover-Fong syndrome (YHFS) [MIM:616954], Pathogenic 1,500,444(+) CATCT(G/T)CCTGG nc-transcript-variant, reference, missense
rs369656775 You-Hoover-Fong syndrome (YHFS) [MIM:616954], Pathogenic 1,497,457(+) AGTGC(C/T)GGACC nc-transcript-variant, reference, missense
rs371675497 You-Hoover-Fong syndrome (YHFS) [MIM:616954], Pathogenic 1,507,605(+) GCTAC(A/G)TGCGC nc-transcript-variant, reference, missense
VAR_077027 You-Hoover-Fong syndrome (YHFS) [MIM:616954]
VAR_077028 You-Hoover-Fong syndrome (YHFS) [MIM:616954]

Structural Variations from Database of Genomic Variants (DGV) for TELO2 Gene

Variant ID Type Subtype PubMed ID
dgv4854n54 CNV loss 21841781
esv1008115 CNV deletion 20482838
esv2422427 CNV duplication 17116639
esv2741194 CNV deletion 23290073
esv2750345 CNV deletion 23290073
esv2750346 CNV deletion 23290073
esv2762143 CNV gain 21179565
nsv1051692 CNV loss 25217958
nsv1108978 CNV deletion 24896259
nsv457332 CNV loss 19166990
nsv819259 CNV gain 19587683
nsv952899 CNV deletion 24416366

Variation tolerance for TELO2 Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.03; 80.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TELO2 Gene

Human Gene Mutation Database (HGMD)
TELO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TELO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TELO2 Gene

Disorders for TELO2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TELO2 Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
you-hoover-fong syndrome
  • yhfs
seckel syndrome 1
  • seckel syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TELO2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TELO2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TELO2
genes like me logo Genes that share disorders with TELO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TELO2 Gene

Publications for TELO2 Gene

  1. Human CLK2 links cell cycle progression, apoptosis, and telomere length regulation. (PMID: 12670948) Jiang N. … Hekimi S. (J. Biol. Chem. 2003) 2 3 4 64
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  3. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  4. Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex. (PMID: 24656813) HoA9ejA!A- Z. … Boulton S.J. (Cell Rep 2014) 3 4 64
  5. SCF(Fbxo9) and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma. (PMID: 23263282) Fernandez-Saiz V. … Bassermann F. (Nat. Cell Biol. 2013) 3 4 64

Products for TELO2 Gene

Sources for TELO2 Gene

Content
Loading form....