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    TELO2 telomere maintenance 2 [ Homo sapiens (human) ]

    Gene ID: 9894, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TELO2provided by HGNC
    Official Full Name
    telomere maintenance 2provided by HGNC
    Primary source
    HGNC:HGNC:29099
    See related
    Ensembl:ENSG00000100726 MIM:611140; AllianceGenome:HGNC:29099
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLK2; TEL2; YHFS
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 8.3), skin (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TELO2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1493360..1510454)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1508383..1525482)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1543361..1560455)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1534269-1534471 Neighboring gene RPS3A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1543166-1544066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1544968-1545868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1545869-1546768 Neighboring gene pentraxin 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42864 Neighboring gene intraflagellar transport 140 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1582993-1583696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1583697-1584400 Neighboring gene transmembrane protein 204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1592422-1593124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1605115-1605614 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1609654-1609839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1611806-1612415 Neighboring gene uncharacterized LOC105371046

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant. Ciaccio C, et al. Eur J Med Genet, 2021 Jan. PMID 33307281
    2. Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. Del-Prado-Sánchez C, et al. Ophthalmic Genet, 2020 Dec. PMID 32940098
    3. Overexpression of TELO2 decreases survival in human high-grade gliomas. Feng SW, et al. Oncotarget, 2016 Jul 19. PMID 27329594, Free PMC Article
    4. TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. Albokhari D, et al. Am J Med Genet A, 2023 May. PMID 36797513
    5. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. You J, et al. Am J Hum Genet, 2016 May 5. PMID 27132593, Free PMC Article

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
      Title: TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
    2. Structure of the Human TELO2-TTI1-TTI2 Complex.
      Title: Structure of the Human TELO2-TTI1-TTI2 Complex.
    3. TELO2 induced progression of colorectal cancer by binding with RICTOR through mTORC2.
      Title: TELO2 induced progression of colorectal cancer by binding with RICTOR through mTORC2.
    4. Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
      Title: Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
    5. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
      Title: Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
    6. Taken together, human high-grade gliomas increase TELO2 mRNA expression, and overexpression of TELO2 mRNA expression correlates with shorter survival outcome, supporting that TELO2 is an oncotarget in human gliomas.
      Title: Overexpression of TELO2 decreases survival in human high-grade gliomas.
    7. TELO2 missense variants result in loss of function, perturb TTT complex stability, and cause an autosomal-recessive syndromic form of Intellectual Disability Disorder.
      Title: A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
    8. IP7, formed by IP6K2, binds CK2 to enhance its phosphorylation of the Tti1/Tel2 complex, thereby stabilizing DNA-PKcs and ATM. This process stimulates p53 phosphorylation at serine 15 to activate the cell death program.
      Title: Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.
    9. The SAM domain of human TEL2 can inhibit the transcriptional activities of ETS1/2 and TEL1.
      Title: The SAM domain of human TEL2 can abrogate transcriptional output from TEL1 (ETV-6) and ETS1/ETS2.
    10. Data show that that knockdown of either Tti1 or Tel2 causes disassembly of mTORC1 and mTORC2.
      Title: Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    TELO2-related intellectual disability-neurodevelopmental disorder
    MedGen: C4310778 OMIM: 616954 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10924, KIAA0683, DKFZp434A073

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp90 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Hsp90 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in 'de novo' cotranslational protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA damage checkpoint NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein stabilization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of TTT Hsp90 cochaperone complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    telomere length regulation protein TEL2 homolog
    Names
    TEL2, telomere maintenance 2, homolog
    protein clk-2 homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050910.1 RefSeqGene

      Range
      5017..22111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351846.2 → NP_001338775.1  telomere length regulation protein TEL2 homolog

      Status: REVIEWED

      Source sequence(s)
      AL031705
      Consensus CDS
      CCDS32363.1
      UniProtKB/Swiss-Prot
      D3DU73, O75168, Q7LDV4, Q9BR21, Q9Y4R8
      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    2. NM_016111.4 → NP_057195.2  telomere length regulation protein TEL2 homolog

      See identical proteins and their annotated locations for NP_057195.2

      Status: REVIEWED

      Source sequence(s)
      AK302103, BC017188, DB494123
      Consensus CDS
      CCDS32363.1
      UniProtKB/Swiss-Prot
      D3DU73, O75168, Q7LDV4, Q9BR21, Q9Y4R8
      Related
      ENSP00000262319.6, ENST00000262319.11
      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1493360..1510454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434987.1 → XP_047290943.1  telomere length regulation protein TEL2 homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DU73, O75168, Q7LDV4, Q9BR21, Q9Y4R8

    2. XM_047434988.1 → XP_047290944.1  telomere length regulation protein TEL2 homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DU73, O75168, Q7LDV4, Q9BR21, Q9Y4R8

    3. XM_011522773.4 → XP_011521075.1  telomere length regulation protein TEL2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011521075.1

      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    4. XM_011522775.4 → XP_011521077.1  telomere length regulation protein TEL2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011521077.1

      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    5. XM_047434989.1 → XP_047290945.1  telomere length regulation protein TEL2 homolog isoform X3

    6. XM_047434991.1 → XP_047290947.1  telomere length regulation protein TEL2 homolog isoform X4

    7. XM_011522777.4 → XP_011521079.1  telomere length regulation protein TEL2 homolog isoform X4

      See identical proteins and their annotated locations for XP_011521079.1

      UniProtKB/TrEMBL
      B4DFV7
      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    8. XM_011522778.4 → XP_011521080.1  telomere length regulation protein TEL2 homolog isoform X4

      See identical proteins and their annotated locations for XP_011521080.1

      UniProtKB/TrEMBL
      B4DFV7
      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    9. XM_047434992.1 → XP_047290948.1  telomere length regulation protein TEL2 homolog isoform X5

    10. XM_047434993.1 → XP_047290949.1  telomere length regulation protein TEL2 homolog isoform X6

      Related
      ENSP00000456383.1, ENST00000497339.6

    11. XM_011522774.3 → XP_011521076.1  telomere length regulation protein TEL2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011521076.1

      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    12. XM_047434990.1 → XP_047290946.1  telomere length regulation protein TEL2 homolog isoform X3

    13. XM_011522776.3 → XP_011521078.1  telomere length regulation protein TEL2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011521078.1

      Conserved Domains (1) summary
      pfam10193
      Location:512 → 620
      Telomere_reg-2; Telomere length regulation protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1508383..1525482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314549.1 → XP_054170524.1  telomere length regulation protein TEL2 homolog isoform X2

    2. XM_054314544.1 → XP_054170519.1  telomere length regulation protein TEL2 homolog isoform X1

    3. XM_054314545.1 → XP_054170520.1  telomere length regulation protein TEL2 homolog isoform X1

    4. XM_054314550.1 → XP_054170525.1  telomere length regulation protein TEL2 homolog isoform X3

    5. XM_054314552.1 → XP_054170527.1  telomere length regulation protein TEL2 homolog isoform X4

    6. XM_054314553.1 → XP_054170528.1  telomere length regulation protein TEL2 homolog isoform X4

    7. XM_054314554.1 → XP_054170529.1  telomere length regulation protein TEL2 homolog isoform X4

    8. XM_054314555.1 → XP_054170530.1  telomere length regulation protein TEL2 homolog isoform X5

    9. XM_054314556.1 → XP_054170531.1  telomere length regulation protein TEL2 homolog isoform X6

    10. XM_054314548.1 → XP_054170523.1  telomere length regulation protein TEL2 homolog isoform X2

    11. XM_054314546.1 → XP_054170521.1  telomere length regulation protein TEL2 homolog isoform X1

    12. XM_054314547.1 → XP_054170522.1  telomere length regulation protein TEL2 homolog isoform X1

    13. XM_054314551.1 → XP_054170526.1  telomere length regulation protein TEL2 homolog isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4R8.2 GenPept UniProtKB/Swiss-Prot:Q9Y4R8

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