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FLASH GENE

Symbol

TELO2

contributors: mct - updated : 25-05-2018

HGNC name	TEL2, telomere maintenance 2, homolog (S. cerevisiae)
HGNC id	29099

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	17.12 kb     21 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016111 21 - 3338 NP_057195 - 837 - 2007 18160036

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Nervous brain       highly Reproductive female system ovary     highly   male system testis     highly Respiratory lung       highly Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure

HEAT-like helical repeats that assemble into two separate alpha-solenoids

HOMOLOGY

interspecies

ortholog to S. cerevisiae Tel2

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus

basic FUNCTION	TTI1 and TELO2 are important not only for MTOR stability but also for assembly of the MTOR complexes to maintain their activities
	acts with HSP90AA1 in the maturation of PIKK complexes
	acts as a scaffold to coordinate the activities of R2TP/prefoldin-like and HSP90 chaperone complexes during the assembly of the phosphatidylinositol 3-kinase-related kinases (PIKKs)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	TTI1 and TTI2 exist in multiple complexes, including a 2-MDa complex with TELO2, called the Triple T complex, and phosphoinositide-3-kinase-related protein kinases (PIKKs) such as ataxia telangiectasia-mutated (ATM)
	TELO2, TTI2, and TTI1 are the three components of the conserved Triple T (TTT) complex that modulates activity of phosphatidylinositol 3-kinase-related protein kinases

INTERACTION

DNA

RNA

small molecule

protein	SMG1 associated with TELO2 and TELO2 is a highly conserved regulator of PIKK stability
	TTI1 binds to TELO2 in mammalian cells, and interacts with and stabilizes all six members of the PIKK family of proteins (MTOR, ATM, ATR, DNA-PKcs, SMG1, and TRRAP)
	TELO2-TTI1-TTI2 complex is a PIKK-specific cochaperone for HSP90AA1
	DNA-PKcs and ATM are stabilized by the TTT (TELO2, TTI1, TTI2) cochaperone family, whose actions are mediated by CSNK2A1 phosphorylation
	DLX2 expression reduces the protein components of the TTI1/TTI2/TELO2 complex, a key complex required for the proper folding and stabilization of ATM and other members of the PIKK (phosphatidylinositol 3-kinase-related kinase) family kinase
	TTI2 interacts with TTI1 and TELO2 to form the Triple T complex, which is required for various cellular processes, including the double-strand DNA break response, nonsense-mediated mRNA decay, and telomerase assembly
	TTT complex is essential for the expression, maturation, and stability of ATM and ATR in response to DNA damage

cell & other

REGULATION

Phosphorylated by

constitutively phosphorylated on conserved serines 487 and 491 by casein kinase 2 (CSNK2A2)

ASSOCIATED DISORDERS

corresponding disease(s)

MMRAV

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

homozygosity for a Telo2 knockout allele in mice produces embryonic lethality and S phase cell-cycle arrest in mouse embryonic fibroblasts (MEFs)