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
  • TEL2, Telomere Maintenance 2, Homolog 3
  • EC 1.1.1.27 63
  • EC 2.7.11.1 63
  • KIAA0683 4
  • HCLK2 4
  • TEL2 3
  • CLK2 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. Among its related pathways are 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TELO2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TELO2 Gene at MOPED

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

Other Protein References for TELO2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & 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

No data available for Gene Families for TELO2 Gene

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:0005488 binding IEA --
GO:0005515 protein binding IEA,IPI 18160036
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

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:0016020 membrane IEA --
GO:0031932 TORC2 complex IDA 23263282
genes like me logo Genes that share ontologies with TELO2: view

Pathways & Interactions for TELO2 Gene

SuperPathways for TELO2 Gene

Superpath Contained pathways
1 Fanconi anemia pathway
genes like me logo Genes that share pathways with TELO2: view

Pathways by source for TELO2 Gene

1 KEGG pathway 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:1904515 positive regulation of TORC2 signaling IMP 24036451
genes like me logo Genes that share ontologies with TELO2: view

Drugs & Compounds for TELO2 Gene

No Compound Related Data Available

Transcripts for TELO2 Gene

Unigene Clusters for TELO2 Gene

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

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, MOPED, and MaxQB for TELO2 Gene



SOURCE GeneReport for Unigene cluster for TELO2 Gene Hs.271044

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

Protein tissue co-expression partners for TELO2 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia TELO2 35
  • 81.66 (n)
  • 77.21 (a)
TELO2 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TELO2 35
  • 80.13 (n)
  • 76.56 (a)
TELO2 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Telo2 35
  • 78.89 (n)
  • 75.15 (a)
Telo2 16
Telo2 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TELO2 35
  • 98.56 (n)
  • 97.92 (a)
TELO2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Telo2 35
  • 78.82 (n)
  • 75.69 (a)
oppossum
(Monodelphis domestica)
Mammalia TELO2 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves TELO2 35
  • 65.98 (n)
  • 62.62 (a)
TELO2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TELO2 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia telo2 35
  • 56.07 (n)
  • 52 (a)
zebrafish
(Danio rerio)
Actinopterygii telo2 35
  • 54.9 (n)
  • 48.01 (a)
telo2 36
  • 45 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10836 36
  • 24 (a)
OneToOne
Species with no ortholog for TELO2:
  • 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
rs2667661 - 1,494,301(+) CTCAG(A/G)GGTTC nc-transcript-variant, reference, missense
rs2235624 - 1,495,447(+) GACGC(A/G)GCCCG nc-transcript-variant, reference, missense
rs2248128 - 1,505,588(+) GACCC(A/G)GCGGC nc-transcript-variant, downstream-variant-500B, reference, missense
rs2667660 - 1,494,300(+) CCTCA(C/G)AGGTT nc-transcript-variant, reference, missense
rs58099766 - 1,502,106(+) CAAGG(C/T)TCCTG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2505n71 CNV Loss 21882294
nsv904950 CNV Loss 21882294
nsv904954 CNV Loss 21882294
dgv2527n71 CNV Loss 21882294
dgv2528n71 CNV Loss 21882294
dgv2531n71 CNV Loss 21882294
nsv819259 CNV Gain 19587683
nsv905004 CNV Loss 21882294
dgv2535n71 CNV Loss 21882294
nsv905007 CNV Gain 21882294
nsv457332 CNV Loss 19166990
nsv905008 CNV Loss 21882294
dgv2536n71 CNV Loss 21882294
nsv905015 CNV Loss 21882294
dgv2537n71 CNV Loss 21882294
nsv905017 CNV Loss 21882294
nsv905018 CNV Loss 21882294
esv2750345 CNV Deletion 23290073
esv2741194 CNV Deletion 23290073
esv2750346 CNV Deletion 23290073
esv1008115 CNV Deletion 20482838

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

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

Disorders for TELO2 Gene

Relevant External Links for TELO2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TELO2

No disorders were found for TELO2 Gene.

No data available for MalaCards , 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 67
  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
  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. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for TELO2 Gene

Sources for TELO2 Gene

Content