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Entry version 159 (16 Oct 2019)
Sequence version 2 (05 Feb 2008)
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Protein

Telomere length regulation protein TEL2 homolog

Gene

TELO2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y4R8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Telomere length regulation protein TEL2 homolog
Alternative name(s):
Protein clk-2 homolog
Short name:
hCLK2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TELO2
Synonyms:KIAA0683
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29099 TELO2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611140 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y4R8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Chromosome, Cytoplasm, Membrane, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
9894

MalaCards human disease database

More...
MalaCardsi
TELO2
MIMi616954 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100726

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
488642 TELO2-related intellectual disability-neurodevelopmental disorder

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162405604

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y4R8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TELO2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
166987394

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003185151 – 837Telomere length regulation protein TEL2 homologAdd BLAST837

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y4R8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y4R8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y4R8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y4R8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y4R8

PeptideAtlas

More...
PeptideAtlasi
Q9Y4R8

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y4R8

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
86248

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y4R8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y4R8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100726 Expressed in 191 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y4R8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y4R8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041348
HPA041473

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei490Interaction with PIH1D1By similarity1
Sitei491Interaction with PIH1D1By similarity1
Sitei492Interaction with PIH1D1By similarity1

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115223, 55 interactors

Database of interacting proteins

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DIPi
DIP-40568N

Protein interaction database and analysis system

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IntActi
Q9Y4R8, 49 interactors

Molecular INTeraction database

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MINTi
Q9Y4R8

STRING: functional protein association networks

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STRINGi
9606.ENSP00000262319

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9Y4R8

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TEL2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4346 Eukaryota
ENOG410XR2X LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000006698

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000154542

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y4R8

KEGG Orthology (KO)

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KOi
K11137

Identification of Orthologs from Complete Genome Data

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OMAi
SAVRHTP

Database of Orthologous Groups

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OrthoDBi
355610at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y4R8

TreeFam database of animal gene trees

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TreeFami
TF313925

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.720, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR038528 TEL2_sf
IPR019337 Telomere_length_regulation_dom

Pfam protein domain database

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Pfami
View protein in Pfam
PF10193 Telomere_reg-2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i76CB619C73C1F1A7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRS3H3BRS3_HUMAN
Telomere length regulation protein ...
TELO2
426Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA31658 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS32363.1

Protein sequence database of the Protein Information Resource

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PIRi
T12514

NCBI Reference Sequences

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RefSeqi
NP_057195.2, NM_016111.3
XP_016879403.1, XM_017023914.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262319; ENSP00000262319; ENSG00000100726

Database of genes from NCBI RefSeq genomes

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GeneIDi
9894

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9894

UCSC genome browser

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UCSCi
uc002cly.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4PSIX-ray2.45D/E489-498[»]
SMRiQ9Y4R8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115223, 55 interactors
DIPiDIP-40568N
IntActiQ9Y4R8, 49 interactors
MINTiQ9Y4R8
STRINGi9606.ENSP00000262319

PTM databases

iPTMnetiQ9Y4R8
PhosphoSitePlusiQ9Y4R8

Polymorphism and mutation databases

BioMutaiTELO2
DMDMi166987394

Proteomic databases

EPDiQ9Y4R8
jPOSTiQ9Y4R8
MassIVEiQ9Y4R8
MaxQBiQ9Y4R8
PaxDbiQ9Y4R8
PeptideAtlasiQ9Y4R8
PRIDEiQ9Y4R8
ProteomicsDBi86248

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9894

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9894
DisGeNETi9894

GeneCards: human genes, protein and diseases

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GeneCardsi
TELO2
HGNCiHGNC:29099 TELO2
HPAiHPA041348
HPA041473
MalaCardsiTELO2
MIMi611140 gene
616954 phenotype
neXtProtiNX_Q9Y4R8
OpenTargetsiENSG00000100726
Orphaneti488642 TELO2-related intellectual disability-neurodevelopmental disorder
PharmGKBiPA162405604

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4346 Eukaryota
ENOG410XR2X LUCA
GeneTreeiENSGT00390000006698
HOGENOMiHOG000154542
InParanoidiQ9Y4R8
KOiK11137
OMAiSAVRHTP
OrthoDBi355610at2759
PhylomeDBiQ9Y4R8
TreeFamiTF313925

Enzyme and pathway databases

SIGNORiQ9Y4R8

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TELO2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TELO2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9894
PharosiQ9Y4R8

Protein Ontology

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PROi
PR:Q9Y4R8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100726 Expressed in 191 organ(s), highest expression level in right hemisphere of cerebellum
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTELO2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y4R8
Secondary accession number(s): D3DU73
, O75168, Q7LDV4, Q9BR21
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: October 16, 2019
This is version 159 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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