Seroatlas · Human Serome Atlas

TELO2

Telomere length regulation protein TEL2 homolog

Also known as: hCLK2, KIAA0683, TEL2, TELO2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y4R8
Gene: TELO2
Ensembl: ENSG00000100726
Chromosome: 16
Canonical length: 837 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nuclear bodies,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

837 residues, UniProt reviewed canonical sequence.

>Q9Y4R8|TELO2
     1  MEPAPSEVRL AVREAIHALS SSEDGGHIFC TLESLKRYLG EMEPPALPRE KEEFASAHFS
    61  PVLRCLASRL SPAWLELLPH GRLEELWASF FLEGPADQAF LVLMETIEGA AGPSFRLMKM
   121  ARLLARFLRE GRLAVLMEAQ CRQQTQPGFI LLRETLLGKV VALPDHLGNR LQQENLAEFF
   181  PQNYFRLLGE EVVRVLQAVV DSLQGGLDSS VSFVSQVLGK ACVHGRQQEI LGVLVPRLAA
   241  LTQGSYLHQR VCWRLVEQVP DRAMEAVLTG LVEAALGPEV LSRLLGNLVV KNKKAQFVMT
   301  QKLLFLQSRL TTPMLQSLLG HLAMDSQRRP LLLQVLKELL ETWGSSSAIR HTPLPQQRHV
   361  SKAVLICLAQ LGEPELRDSR DELLASMMAG VKCRLDSSLP PVRRLGMIVA EVVSARIHPE
   421  GPPLKFQYEE DELSLELLAL ASPQPAGDGA SEAGTSLVPA TAEPPAETPA EIVDGGVPQA
   481  QLAGSDSDLD SDDEFVPYDM SGDRELKSSK APAYVRDCVE ALTTSEDIER WEAALRALEG
   541  LVYRSPTATR EVSVELAKVL LHLEEKTCVV GFAGLRQRAL VAVTVTDPAP VADYLTSQFY
   601  ALNYSLRQRM DILDVLTLAA QELSRPGCLG RTPQPGSPSP NTPCLPEAAV SQPGSAVASD
   661  WRVVVEERIR SKTQRLSKGG PRQGPAGSPS RFNSVAGHFF FPLLQRFDRP LVTFDLLGED
   721  QLVLGRLAHT LGALMCLAVN TTVAVAMGKA LLEFVWALRF HIDAYVRQGL LSAVSSVLLS
   781  LPAARLLEDL MDELLEARSW LADVAEKDPD EDCRTLALRA LLLLQRLKNR LLPPASP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TELO2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 24 nTPM
spleen: 18 nTPM
skeletal muscle: 16 nTPM
prostate: 15 nTPM
cervix: 15 nTPM
liver: 14 nTPM

Single-cell type

cytotrophoblasts: 32 nCPM
enteric transient amplifying cells: 30 nCPM
esophageal basal cells: 29 nCPM
migrating cytotrophoblasts: 28 nCPM
ependymal cells: 28 nCPM
hofbauer cells: 26 nCPM

Immune cell

non-classical monocyte: 11 nTPM
intermediate monocyte: 7.2 nTPM
myeloid DC: 6.9 nTPM
naive B-cell: 6 nTPM
classical monocyte: 5.7 nTPM
total PBMC: 4.7 nTPM

Brain region

medulla oblongata: 26 nTPM
cerebellum: 22 nTPM
cerebral cortex: 21 nTPM
midbrain: 21 nTPM
white matter: 21 nTPM
pons: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TELO2.

Disease | AllUniProt

Conditions TELO2 is implicated in, by any mechanism.

You-Hoover-Fong syndrome (YHFS) MIM:616954

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 681 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

TELO2-related intellectual disability-neurodevelopmental disorder
TELO2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.93
gnomAD pLI: 0
gnomAD missense Z: -0.37
DepMap mean gene effect: -0.5
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Armadillo-type fold
Telomere length regulation protein, conserved domain
TEL2, C-terminal domain superfamily
Telomere Length Regulation TEL2
TELO2, ARM repeat domain
Telomere length regulation protein
TELO2 ARM repeat domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TELO2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TELO2 as an antibody target. Whether an autoantibody or antibody against TELO2 could matter depends on whether native TELO2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TELO2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TELO2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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