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FLASH GENE

Symbol

TTI2

contributors: mct - updated : 25-04-2023

HGNC name	TELO2 interacting protein 2
HGNC id	26262

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRT39 intellectual developmental disorder, autosomal recessive 39
Location	8p12      Physical location : -
Synonym name	chromosome 8 open reading frame 41
	Tel two-interacting protein 2
Synonym symbol(s)	FLJ23263, C8orf41

DNA

TYPE	functioning gene
STRUCTURE	14.68 kb     8 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_001102401 8 - 2394 NP_001095871 57 508 - 2010 20801936 NM_025115 8 - 2763 NP_079391 57 508 - 2010 20801936 NM_001265581 8 - 2516 NP_001252510 - 508 - 2010 20801936

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 stomach         Endocrine adrenal gland           neuroendocrine pituitary

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION

TTI1 and TTI2 protect cells from spontaneous DNA damage, and are required for the establishment of the intra-S and G2/M checkpoints

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	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	TELO2-TTI1-TTI2 complex is a PIKK-specific cochaperone for HSP90AA1
	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

ASSOCIATED DISORDERS

corresponding disease(s)

MRT39

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS