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Protein

Telomere length regulation protein TEL2 homolog

Gene

TELO2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

Miscellaneous

Cells overexpressing TELO2 are hypersensitive to hydroxyurea (HU) and undergo apoptotic death in response to treatment with HU.

GO - Molecular functioni

  • Hsp90 protein binding Source: UniProtKB
  • protein-containing complex binding Source: MGI
  • protein-containing complex scaffold activity Source: Ensembl
  • protein kinase binding Source: UniProtKB
  • telomeric DNA binding Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

SIGNORiQ9Y4R8

Names & Taxonomyi

Protein namesi
Recommended name:
Telomere length regulation protein TEL2 homolog
Alternative name(s):
Protein clk-2 homolog
Short name:
hCLK2
Gene namesi
Name:TELO2
Synonyms:KIAA0683
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000100726.14
HGNCiHGNC:29099 TELO2
MIMi611140 gene
neXtProtiNX_Q9Y4R8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Membrane, Nucleus, Telomere

Pathology & Biotechi

Involvement in diseasei

You-Hoover-Fong syndrome (YHFS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616954
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077025260P → L in YHFS. 1 PublicationCorresponds to variant dbSNP:rs369656775EnsemblClinVar.1
Natural variantiVAR_077026367C → F in YHFS. 1 PublicationCorresponds to variant dbSNP:rs202020308EnsemblClinVar.1
Natural variantiVAR_077027609R → H in YHFS. 1 PublicationCorresponds to variant dbSNP:rs754162070EnsemblClinVar.1
Natural variantiVAR_077028720D → V in YHFS. 1 PublicationCorresponds to variant dbSNP:rs878853271EnsemblClinVar.1
Natural variantiVAR_077029766V → M in YHFS. 1 PublicationCorresponds to variant dbSNP:rs371675497EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi485S → A: Abolishes phosphorylation by CK2 in response to growth factor deprivation and subsequent ubiquitination and degradation. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi9894
MalaCardsiTELO2
MIMi616954 phenotype
OpenTargetsiENSG00000100726
Orphaneti488642 TELO2-related intellectual disability-neurodevelopmental disorder
PharmGKBiPA162405604

Polymorphism and mutation databases

BioMutaiTELO2
DMDMi166987394

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003185151 – 837Telomere length regulation protein TEL2 homologAdd BLAST837

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei374Hydroxyproline1 Publication1
Modified residuei419Hydroxyproline1 Publication1
Modified residuei422Hydroxyproline1 Publication1
Modified residuei456PhosphoserineBy similarity1
Modified residuei485Phosphoserine; by CK21 Publication1
Modified residuei487Phosphoserine1 Publication1
Modified residuei491Phosphoserine1 Publication1
Modified residuei688PhosphoserineCombined sources1
Modified residuei836PhosphoserineCombined sources1

Post-translational modificationi

Hydroxylation by PHD3 is required for a proper interaction with ATR, and activation of the ATR/CHK1/p53 pathway following DNA damage.1 Publication
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.1 Publication
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 mTORC1.1 Publication

Keywords - PTMi

Acetylation, Hydroxylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9Y4R8
MaxQBiQ9Y4R8
PaxDbiQ9Y4R8
PeptideAtlasiQ9Y4R8
PRIDEiQ9Y4R8
ProteomicsDBi86248

PTM databases

iPTMnetiQ9Y4R8
PhosphoSitePlusiQ9Y4R8

Expressioni

Gene expression databases

BgeeiENSG00000100726 Expressed in 191 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_TELO2
ExpressionAtlasiQ9Y4R8 baseline and differential
GenevisibleiQ9Y4R8 HS

Organism-specific databases

HPAiHPA041348
HPA041473

Interactioni

Subunit structurei

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).6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei490Interaction with PIH1D1By similarity1
Sitei491Interaction with PIH1D1By similarity1
Sitei492Interaction with PIH1D1By similarity1

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115223, 51 interactors
DIPiDIP-40568N
IntActiQ9Y4R8, 41 interactors
MINTiQ9Y4R8
STRINGi9606.ENSP00000262319

Structurei

3D structure databases

ProteinModelPortaliQ9Y4R8
SMRiQ9Y4R8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TEL2 family.Curated

Phylogenomic databases

eggNOGiKOG4346 Eukaryota
ENOG410XR2X LUCA
GeneTreeiENSGT00390000006698
HOGENOMiHOG000154542
HOVERGENiHBG108557
InParanoidiQ9Y4R8
KOiK11137
OMAiAGHFFFP
OrthoDBiEOG091G058H
PhylomeDBiQ9Y4R8
TreeFamiTF313925

Family and domain databases

Gene3Di1.25.40.720, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR038528 TEL2_sf
IPR019337 Telomere_length_regulation_dom
PfamiView protein in Pfam
PF10193 Telomere_reg-2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9Y4R8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEPAPSEVRL AVREAIHALS SSEDGGHIFC TLESLKRYLG EMEPPALPRE
60 70 80 90 100
KEEFASAHFS PVLRCLASRL SPAWLELLPH GRLEELWASF FLEGPADQAF
110 120 130 140 150
LVLMETIEGA AGPSFRLMKM ARLLARFLRE GRLAVLMEAQ CRQQTQPGFI
160 170 180 190 200
LLRETLLGKV VALPDHLGNR LQQENLAEFF PQNYFRLLGE EVVRVLQAVV
210 220 230 240 250
DSLQGGLDSS VSFVSQVLGK ACVHGRQQEI LGVLVPRLAA LTQGSYLHQR
260 270 280 290 300
VCWRLVEQVP DRAMEAVLTG LVEAALGPEV LSRLLGNLVV KNKKAQFVMT
310 320 330 340 350
QKLLFLQSRL TTPMLQSLLG HLAMDSQRRP LLLQVLKELL ETWGSSSAIR
360 370 380 390 400
HTPLPQQRHV SKAVLICLAQ LGEPELRDSR DELLASMMAG VKCRLDSSLP
410 420 430 440 450
PVRRLGMIVA EVVSARIHPE GPPLKFQYEE DELSLELLAL ASPQPAGDGA
460 470 480 490 500
SEAGTSLVPA TAEPPAETPA EIVDGGVPQA QLAGSDSDLD SDDEFVPYDM
510 520 530 540 550
SGDRELKSSK APAYVRDCVE ALTTSEDIER WEAALRALEG LVYRSPTATR
560 570 580 590 600
EVSVELAKVL LHLEEKTCVV GFAGLRQRAL VAVTVTDPAP VADYLTSQFY
610 620 630 640 650
ALNYSLRQRM DILDVLTLAA QELSRPGCLG RTPQPGSPSP NTPCLPEAAV
660 670 680 690 700
SQPGSAVASD WRVVVEERIR SKTQRLSKGG PRQGPAGSPS RFNSVAGHFF
710 720 730 740 750
FPLLQRFDRP LVTFDLLGED QLVLGRLAHT LGALMCLAVN TTVAVAMGKA
760 770 780 790 800
LLEFVWALRF HIDAYVRQGL LSAVSSVLLS LPAARLLEDL MDELLEARSW
810 820 830
LADVAEKDPD EDCRTLALRA LLLLQRLKNR LLPPASP
Length:837
Mass (Da):91,747
Last modified:February 5, 2008 - v2
Checksum:i76CB619C73C1F1A7
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BU45H3BU45_HUMAN
Telomere length regulation protein ...
TELO2
160Annotation score:
H3BRS3H3BRS3_HUMAN
Telomere length regulation protein ...
TELO2
426Annotation score:

Sequence cautioni

The sequence BAA31658 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7E → R in BAA31658 (PubMed:9734811).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0387527E → G. Corresponds to variant dbSNP:rs2667661Ensembl.1
Natural variantiVAR_0618397E → Q. Corresponds to variant dbSNP:rs2667660Ensembl.1
Natural variantiVAR_038753146Q → R4 PublicationsCorresponds to variant dbSNP:rs2235624Ensembl.1
Natural variantiVAR_077025260P → L in YHFS. 1 PublicationCorresponds to variant dbSNP:rs369656775EnsemblClinVar.1
Natural variantiVAR_077026367C → F in YHFS. 1 PublicationCorresponds to variant dbSNP:rs202020308EnsemblClinVar.1
Natural variantiVAR_061840511A → V. Corresponds to variant dbSNP:rs58099766Ensembl.1
Natural variantiVAR_077027609R → H in YHFS. 1 PublicationCorresponds to variant dbSNP:rs754162070EnsemblClinVar.1
Natural variantiVAR_038754674Q → R. Corresponds to variant dbSNP:rs2248128Ensembl.1
Natural variantiVAR_077028720D → V in YHFS. 1 PublicationCorresponds to variant dbSNP:rs878853271EnsemblClinVar.1
Natural variantiVAR_077029766V → M in YHFS. 1 PublicationCorresponds to variant dbSNP:rs371675497EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014583 mRNA Translation: BAA31658.3 Different initiation.
AL080126 mRNA Translation: CAB45724.1
AL137394 mRNA Translation: CAB70722.1
AE006467 Genomic DNA Translation: AAK61284.1
AL031705 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85647.1
CH471112 Genomic DNA Translation: EAW85649.1
CH471112 Genomic DNA Translation: EAW85650.1
BC017188 mRNA Translation: AAH17188.1
CCDSiCCDS32363.1
PIRiT12514
RefSeqiNP_057195.2, NM_016111.3
XP_016879403.1, XM_017023914.1
UniGeneiHs.271044

Genome annotation databases

EnsembliENST00000262319; ENSP00000262319; ENSG00000100726
GeneIDi9894
KEGGihsa:9894
UCSCiuc002cly.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014583 mRNA Translation: BAA31658.3 Different initiation.
AL080126 mRNA Translation: CAB45724.1
AL137394 mRNA Translation: CAB70722.1
AE006467 Genomic DNA Translation: AAK61284.1
AL031705 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85647.1
CH471112 Genomic DNA Translation: EAW85649.1
CH471112 Genomic DNA Translation: EAW85650.1
BC017188 mRNA Translation: AAH17188.1
CCDSiCCDS32363.1
PIRiT12514
RefSeqiNP_057195.2, NM_016111.3
XP_016879403.1, XM_017023914.1
UniGeneiHs.271044

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4PSIX-ray2.45D/E489-498[»]
ProteinModelPortaliQ9Y4R8
SMRiQ9Y4R8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115223, 51 interactors
DIPiDIP-40568N
IntActiQ9Y4R8, 41 interactors
MINTiQ9Y4R8
STRINGi9606.ENSP00000262319

PTM databases

iPTMnetiQ9Y4R8
PhosphoSitePlusiQ9Y4R8

Polymorphism and mutation databases

BioMutaiTELO2
DMDMi166987394

Proteomic databases

EPDiQ9Y4R8
MaxQBiQ9Y4R8
PaxDbiQ9Y4R8
PeptideAtlasiQ9Y4R8
PRIDEiQ9Y4R8
ProteomicsDBi86248

Protocols and materials databases

DNASUi9894
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262319; ENSP00000262319; ENSG00000100726
GeneIDi9894
KEGGihsa:9894
UCSCiuc002cly.4 human

Organism-specific databases

CTDi9894
DisGeNETi9894
EuPathDBiHostDB:ENSG00000100726.14
GeneCardsiTELO2
H-InvDBiHIX0012685
HGNCiHGNC:29099 TELO2
HPAiHPA041348
HPA041473
MalaCardsiTELO2
MIMi611140 gene
616954 phenotype
neXtProtiNX_Q9Y4R8
OpenTargetsiENSG00000100726
Orphaneti488642 TELO2-related intellectual disability-neurodevelopmental disorder
PharmGKBiPA162405604
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4346 Eukaryota
ENOG410XR2X LUCA
GeneTreeiENSGT00390000006698
HOGENOMiHOG000154542
HOVERGENiHBG108557
InParanoidiQ9Y4R8
KOiK11137
OMAiAGHFFFP
OrthoDBiEOG091G058H
PhylomeDBiQ9Y4R8
TreeFamiTF313925

Enzyme and pathway databases

SIGNORiQ9Y4R8

Miscellaneous databases

ChiTaRSiTELO2 human
GeneWikiiTELO2
GenomeRNAii9894
PROiPR:Q9Y4R8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100726 Expressed in 191 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_TELO2
ExpressionAtlasiQ9Y4R8 baseline and differential
GenevisibleiQ9Y4R8 HS

Family and domain databases

Gene3Di1.25.40.720, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR038528 TEL2_sf
IPR019337 Telomere_length_regulation_dom
PfamiView protein in Pfam
PF10193 Telomere_reg-2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTELO2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4R8
Secondary accession number(s): D3DU73
, O75168, Q7LDV4, Q9BR21
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: November 7, 2018
This is version 150 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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