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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
  • KIAA0683 4
  • HCLK2 4
  • CLK2 3
  • TEL2 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 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii. Among its related pathways are mTOR signaling pathway (KEGG) and Fanconi anemia pathway. Gene Ontology (GO) annotations related to this gene include binding and protein-containing complex scaffold activity.

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

GeneHancer (GH) Regulatory Elements for TELO2 Gene

Promoters and enhancers for TELO2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001492 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.4 +0.6 551 3.3 HDGF CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 SLC30A9 POLR2B ZNF766 TELO2 PIR36704 PTX4 ENSG00000259840 TMEM204 GC16P001491 GC16M001495
GH16J001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 191.7 -182.6 -182590 5.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 UBE2I LOC102723815 WDR90 CRAMP1 ENSG00000261505 TELO2 ENSG00000260051 E4F1 TSC2 IFT140
GH16J001506 Promoter 0.5 EPDnew 650.4 +13.3 13261 0.1 TELO2 GC16P001504 ENSG00000260646
GH16J002147 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 83.5 +662.4 662446 17.4 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 TRAF7 SNORD60 SNHG19 GC16M002156 GC16M002158 ENSG00000281010 RAB26 ENSG00000261505 CRAMP1 ENSG00000260051
GH16J001271 Enhancer 1 ENCODE 178.8 -221.5 -221518 1.6 PKNOX1 SMAD1 SIN3A FEZF1 ZNF2 YY1 ZNF213 ZNF416 KLF13 SP3 CRAMP1 WDR90 TELO2 IFT140 TSC2 ENSG00000261505 E4F1 WDR24 ENSG00000260051 RHOT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TELO2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TELO2 gene promoter:
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • Pax-5
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Pax-4a
  • AML1a
  • POU2F1a

Genomic Locations for TELO2 Gene

Genomic Locations for TELO2 Gene
chr16:1,493,344-1,510,459
(GRCh38/hg38)
Size:
17,116 bases
Orientation:
Plus strand
chr16:1,543,345-1,560,460
(GRCh37/hg19)
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

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 posLast=392392, isoforms=159, posLast=5151, and isoforms=36
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TELO2 Gene

Domains & Families for TELO2 Gene

Gene Families for TELO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • 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.

Phenotypes From GWAS Catalog 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 IPI 18160036
GO:0019901 protein kinase binding IPI 20864032
GO:0032947 protein-containing complex scaffold activity IEA --
GO:0042162 telomeric DNA binding IBA --
genes like me logo Genes that share ontologies with TELO2: view
genes like me logo Genes that share phenotypes with TELO2: view

Human Phenotype Ontology for TELO2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TELO2 Gene

MGI Knock Outs for TELO2:

Animal Model Products

CRISPR Products

miRNA for TELO2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TELO2

No data available for Enzyme Numbers (IUBMB) , 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:0000784 nuclear chromosome, telomeric region IBA --
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA,IEA 20864032
GO:0005694 chromosome IEA --
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:0000723 telomere maintenance IBA --
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
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TELO2

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, 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

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 34 33
  • 98.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TELO2 34 33
  • 81.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TELO2 34 33
  • 80.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Telo2 16 34 33
  • 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 34 33
  • 65.98 (n)
OneToOne
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 34 33
  • 54.9 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for TELO2: view image

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 Variation AA Info Type
rs1053730 benign, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 1,510,885(+) A/G downstream_transcript_variant
rs142217951 likely-pathogenic, You-Hoover-Fong syndrome 1,502,932(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs144879630 uncertain-significance, likely-benign, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, not specified 1,510,942(+) C/T downstream_transcript_variant
rs184405274 uncertain-significance, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 1,510,709(+) G/T downstream_transcript_variant
rs192256907 uncertain-significance, Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 1,510,515(+) G/A downstream_transcript_variant

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)

Additional Variant Information for TELO2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TELO2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TELO2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, 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.

Additional Disease Information for 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 58
  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 58
  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 58
  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 58
  5. Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex. (PMID: 24656813) Hořejší Z … Boulton SJ (Cell reports 2014) 3 4 58

Products for TELO2 Gene

Sources for TELO2 Gene

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