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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 58
  • EC 2.7.11.1 58
  • 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 Telo2-Related Intellectual Disability-Neurodevelopmental Disorder. Among its related pathways are Fanconi anemia pathway and mTOR signaling pathway (KEGG). 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

Additional gene information for TELO2 Gene

No data available for CIViC summary , 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
GH16H001308 1.4 ENCODE dbSUPER 177.6 -182.6 -182590 5 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MCM3 NFYC WDR90 CRAMP1 ENSG00000261505 TELO2 UBE2I E4F1 TSC2 ENSG00000260051 JMJD8 RHOT2
GH16H001271 1.1 ENCODE 178.8 -221.5 -221518 1 PKNOX1 SIN3A FEZF1 ZNF2 ZNF302 ZNF416 SP3 REST ZNF662 ZNF592 CRAMP1 WDR90 TELO2 IFT140 ENSG00000261505 TSC2 E4F1 WDR24 ENSG00000260646 UBE2I
GH16H002147 2 FANTOM5 Ensembl ENCODE dbSUPER 55.7 +662.4 662447 17 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC CRAMP1 ENSG00000260051 ENSG00000261505 TELO2 TBL3 UNKL E4F1 TSC2 SRRM2 ZNF213-AS1
GH16H001962 1.4 Ensembl ENCODE 53.9 +470.9 470878 4 HNRNPUL1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ENSG00000255513 ENSG00000261505 ENSG00000260051 TELO2 E4F1 UNKL TSC2 SNHG9 CRAMP1 SRRM2
GH16H000981 1.2 ENCODE dbSUPER 57.3 -511.9 -511869 0 ZNF493 ZNF133 GLI4 ZNF2 GLIS2 ZNF416 KLF7 ZNF548 SP3 MCM3 WDR90 CRAMP1 ENSG00000261505 UBE2I JMJD8 TELO2 ENSG00000260954 UNKL ENSG00000260051 WDR24
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000082355 256 1201 HDGF ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 SLC30A9 ZNF766 GATA2

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

Q9Y4R8:
  • KEEFASA
  • PPVRRLG

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 Lys36, posLast=5151, Lys159, and Lys392
  • Modification sites at PhosphoSitePlus

Domains & Families for TELO2 Gene

Gene Families for TELO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

Phenotypes From GWAS Catalog 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 IEA,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

CRISPR Products

miRNA for TELO2 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TELO2
  • Applied Biological Materials Clones for TELO2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TELO2 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
See all subcellular structures

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 IDA,IEA 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,IEA 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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TELO2
  • Applied Biological Materials Clones for TELO2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for TELO2 Gene

  • Nervous system(4.4)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.56 (n)
cow
(Bos Taurus)
Mammalia TELO2 33 34
  • 81.66 (n)
dog
(Canis familiaris)
Mammalia TELO2 33 34
  • 80.13 (n)
mouse
(Mus musculus)
Mammalia Telo2 33 16 34
  • 78.89 (n)
rat
(Rattus norvegicus)
Mammalia Telo2 33
  • 78.82 (n)
oppossum
(Monodelphis domestica)
Mammalia TELO2 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves TELO2 33 34
  • 65.98 (n)
lizard
(Anolis carolinensis)
Reptilia TELO2 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia telo2 33
  • 56.07 (n)
zebrafish
(Danio rerio)
Actinopterygii telo2 33 34
  • 54.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10836 34
  • 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 Pathogenic, You-Hoover-Fong syndrome (YHFS) [MIM:616954] 1,500,444(+) CATCT(G/T)CCTGG nc-transcript-variant, reference, missense
rs369656775 Pathogenic, You-Hoover-Fong syndrome (YHFS) [MIM:616954] 1,497,457(+) AGTGC(C/T)GGACC nc-transcript-variant, reference, missense
rs371675497 Pathogenic, You-Hoover-Fong syndrome (YHFS) [MIM:616954] 1,507,605(+) GCTAC(A/G)TGCGC nc-transcript-variant, reference, missense
rs878853271 Pathogenic, You-Hoover-Fong syndrome (YHFS) [MIM:616954] 1,506,984(+) AGAAG(A/T)CCAGC nc-transcript-variant, downstream-variant-500B, reference, missense
VAR_077027 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

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

- elite association - COSMIC cancer census association via MalaCards
Search TELO2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TELO2_HUMAN
  • You-Hoover-Fong syndrome (YHFS) [MIM:616954]: A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:27132593}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 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 (The Journal of biological chemistry 2003) 2 3 4 60
  2. Toward 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 research 2001) 2 3 4 60
  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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 60
  4. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. (PMID: 27132593) You J … Hoover-Fong J (American journal of human genetics 2016) 3 4 60
  5. Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex. (PMID: 24656813) Hořejší Z … Boulton SJ (Cell reports 2014) 3 4 60

Products for TELO2 Gene

  • Addgene plasmids for TELO2

Sources for TELO2 Gene

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