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TELO2 telomere maintenance 2 [ Homo sapiens (human) ]

Gene ID: 9894, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1493360..1510454)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1508383..1525482)
105.20220307 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. 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
  2. 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
  3. Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. Del-Prado-Sánchez C, et al. Ophthalmic Genet, 2020 Dec. PMID 32940098
  4. Overexpression of TELO2 decreases survival in human high-grade gliomas. Feng SW, et al. Oncotarget, 2016 Jul 19. PMID 27329594, Free PMC Article
  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 (94) 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)

Genotypes

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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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_2023_10

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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