Human Gene TELO2 (ENST00000262319.11_4) from GENCODE V47lift37
  Description: telomere maintenance 2, transcript variant 1 (from RefSeq NM_016111.4)
Gencode Transcript: ENST00000262319.11_4
Gencode Gene: ENSG00000100726.15_7
Transcript (Including UTRs)
   Position: hg19 chr16:1,543,361-1,560,455 Size: 17,095 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr16:1,544,283-1,559,937 Size: 15,655 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:1,543,361-1,560,455)mRNA (may differ from genome)Protein (837 aa)
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-  Comments and Description Text from UniProtKB
  ID: TELO2_HUMAN
DESCRIPTION: RecName: Full=Telomere length regulation protein TEL2 homolog; AltName: Full=Protein clk-2 homolog; Short=hCLK2;
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.
SUBUNIT: Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with ATM, ATR, MTOR, PRKDC, RUVBL2, TTI1, TTI2, SMG1 and TRRAP.
INTERACTION: Q13315:ATM; NbExp=4; IntAct=EBI-1043674, EBI-495465; O43156:TTI1; NbExp=7; IntAct=EBI-1043674, EBI-1055680;
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Nucleus. Chromosome, telomere (Probable).
MISCELLANEOUS: Cells overexpressing TELO2 are hypersensitive to hydroxyurea (HU) and undergo apoptotic death in response to treatment with HU.
SIMILARITY: Belongs to the TEL2 family.
SEQUENCE CAUTION: Sequence=BAA31658.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TELO2
Diseases sorted by gene-association score: you-hoover-fong syndrome* (1231), telo2-related intellectual disability-neurodevelopmental disorder* (400), microcephalic osteodysplastic primordial dwarfism, type ii (10), syndromic intellectual disability (9), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.06 RPKM in Brain - Cerebellum
Total median expression: 589.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -138.70282-0.492 Picture PostScript Text
3' UTR -251.10518-0.485 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019337 - Telomere_length_regulation_dom

Pfam Domains:
PF10193 - Telomere length regulation protein

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q9Y4R8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0032947 protein complex scaffold
GO:0044877 macromolecular complex binding
GO:0051879 Hsp90 protein binding

Biological Process:
GO:0032006 regulation of TOR signaling
GO:0050821 protein stabilization
GO:0071902 positive regulation of protein serine/threonine kinase activity
GO:1904263 positive regulation of TORC1 signaling
GO:1904515 positive regulation of TORC2 signaling

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0016604 nuclear body
GO:0031931 TORC1 complex
GO:0031932 TORC2 complex
GO:0034399 nuclear periphery


-  Descriptions from all associated GenBank mRNAs
  AB014583 - Homo sapiens KIAA0683 mRNA for KIAA0683 protein.
AL080126 - Homo sapiens mRNA; cDNA DKFZp434A073 (from clone DKFZp434A073).
AL137394 - Homo sapiens mRNA; cDNA DKFZp434I062 (from clone DKFZp434I062).
AK294283 - Homo sapiens cDNA FLJ60481 complete cds.
AK302103 - Homo sapiens cDNA FLJ58340 complete cds.
BC017188 - Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae), mRNA (cDNA clone MGC:1356 IMAGE:3139743), complete cds.
JD173410 - Sequence 154434 from Patent EP1572962.
JD456872 - Sequence 437896 from Patent EP1572962.
JD449685 - Sequence 430709 from Patent EP1572962.
AB384510 - Synthetic construct DNA, clone: pF1KA0683, Homo sapiens TELO2 gene for telomere maintenance protein 2, homolog, complete cds, without stop codon, in Flexi system.
AM392917 - Synthetic construct Homo sapiens clone IMAGE:100001768 for hypothetical protein (KIAA0683 gene).
DQ575593 - Homo sapiens piRNA piR-43705, complete sequence.
AK001786 - Homo sapiens cDNA FLJ10924 fis, clone OVARC1000443, highly similar to Homo sapiens mRNA; cDNA DKFZp434A073.
BC028332 - Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4509972).
JD252086 - Sequence 233110 from Patent EP1572962.
JD177038 - Sequence 158062 from Patent EP1572962.
JD442682 - Sequence 423706 from Patent EP1572962.
JD138847 - Sequence 119871 from Patent EP1572962.
JD409392 - Sequence 390416 from Patent EP1572962.
JD175419 - Sequence 156443 from Patent EP1572962.
JD474139 - Sequence 455163 from Patent EP1572962.
JD173747 - Sequence 154771 from Patent EP1572962.
JD058057 - Sequence 39081 from Patent EP1572962.
JD190881 - Sequence 171905 from Patent EP1572962.
JD177609 - Sequence 158633 from Patent EP1572962.
JD469986 - Sequence 451010 from Patent EP1572962.
JD232326 - Sequence 213350 from Patent EP1572962.
JD197879 - Sequence 178903 from Patent EP1572962.
JD283947 - Sequence 264971 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DU73, ENST00000262319.1, ENST00000262319.10, ENST00000262319.2, ENST00000262319.3, ENST00000262319.4, ENST00000262319.5, ENST00000262319.6, ENST00000262319.7, ENST00000262319.8, ENST00000262319.9, KIAA0683, NM_016111, O75168, Q7LDV4, Q9BR21, Q9Y4R8, TELO2_HUMAN, uc317gzb.1, uc317gzb.2
UCSC ID: ENST00000262319.11_4
RefSeq Accession: NM_016111.4
Protein: Q9Y4R8 (aka TELO2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.