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TELO2 telomere maintenance 2 [ Homo sapiens (human) ]

Gene ID: 9894, updated on 4-Oct-2020

Summary

Official Symbol
TELO2provided by HGNC
Official Full Name
telomere maintenance 2provided by HGNC
Primary source
HGNC:HGNC:29099
See related
Ensembl:ENSG00000100726 MIM:611140
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

Genomic context

See TELO2 in Genome Data Viewer
Location:
16p13.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1493345..1510459)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1543352..1560460)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RPS3A pseudogene 2 Neighboring gene pentraxin 4 Neighboring gene intraflagellar transport 140 Neighboring gene transmembrane protein 204 Neighboring gene uncharacterized LOC105371046

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10924, KIAA0683, DKFZp434A073

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Hsp90 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Hsp90 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
molecular adaptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
positive regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of TORC2 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
ASTRA complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
TORC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular IDA
Inferred from Direct Assay
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear periphery IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001351846.2NP_001338775.1  telomere length regulation protein TEL2 homolog

    Status: REVIEWED

    Source sequence(s)
    AL031705
    Consensus CDS
    CCDS32363.1
    Conserved Domains (1) summary
    pfam10193
    Location:512620
    Telomere_reg-2; Telomere length regulation protein
  2. NM_016111.4NP_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
    Q9Y4R8
    UniProtKB/TrEMBL
    B4DXS2
    Related
    ENSP00000262319.6, ENST00000262319.11
    Conserved Domains (1) summary
    pfam10193
    Location:512620
    Telomere_reg-2; Telomere length regulation protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    1493345..1510459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522775.3XP_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:512620
    Telomere_reg-2; Telomere length regulation protein
  2. XM_011522773.3XP_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:512620
    Telomere_reg-2; Telomere length regulation protein
  3. XM_011522777.3XP_011521079.1  telomere length regulation protein TEL2 homolog isoform X2

    See identical proteins and their annotated locations for XP_011521079.1

    Conserved Domains (1) summary
    pfam10193
    Location:512620
    Telomere_reg-2; Telomere length regulation protein
  4. XM_011522778.3XP_011521080.1  telomere length regulation protein TEL2 homolog isoform X2

    See identical proteins and their annotated locations for XP_011521080.1

    Conserved Domains (1) summary
    pfam10193
    Location:512620
    Telomere_reg-2; Telomere length regulation protein
  5. XM_011522774.2XP_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:512620
    Telomere_reg-2; Telomere length regulation protein
  6. XM_011522776.2XP_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:512620
    Telomere_reg-2; Telomere length regulation protein

RNA

  1. XR_932982.3 RNA Sequence

  2. XR_001752042.2 RNA Sequence

  3. XR_001752043.2 RNA Sequence

  4. XR_001752044.2 RNA Sequence

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