Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	80185
Gene name	TELO2 interacting protein 2
Gene symbol	TTI2
Synonyms (NCBI Gene)	C8orf41MRT39
Chromosome	8
Chromosome location	8p12
Summary	This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance t

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398122366	G>A,C,T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029659	hsa-miR-26b-5p	Microarray	19088304
MIRT045214	hsa-miR-186-5p	CLASH	23622248

Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	NAS	20810650
GO:0050821	Process	Protein stabilization	NAS	20810650
GO:0110078	Component	TTT Hsp90 cochaperone complex	IBA
GO:0110078	Component	TTT Hsp90 cochaperone complex	IEA
GO:0110078	Component	TTT Hsp90 cochaperone complex	IPI	20810650
GO:2000003	Process	Positive regulation of DNA damage checkpoint	NAS	20810650

MIM	HGNC	e!Ensembl
614426	26262	ENSG00000129696

Q6NXR4

Protein name

TELO2-interacting protein 2

Protein function

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 resi

PDB

7OLE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10521	Tti2	199 → 447	Tti2 family	Family

Sequence

MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIE
ATEFDRLFEGTGARLRGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLF
LKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLEQPWTTPRSREVAREVLTSLL
QVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW
LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHL
YTPEHHLIQAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRR
TYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPR
VSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI
PQSCEDRKVVNYIRKVQQVSEGAPYNGT

Sequence length

508

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Likely pathogenic; Pathogenic	rs200045967, rs765235179, rs1180962073, rs1563352011, rs398122366, rs398122367	RCV002463372 RCV003236617 RCV003236618 RCV003990681 RCV000074456 RCV000074457

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Microcephaly	Uncertain significance	rs190298167, rs201287148	RCV001252790 RCV001252791
TTI2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs2304748, rs3098657, rs138257989, rs765413522, rs1038077253, rs773321743, rs199720231, rs116342278, rs114120191	RCV003976233 RCV003976234 RCV003954202 RCV003941828 RCV003943949 RCV003961973 RCV003962402 RCV003978159 RCV003970671

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autosomal Recessive Primary Microcephaly	Associate	32061250
Brain Diseases	Associate	36724785
Deafness Autosomal Recessive 39	Associate	32061250
Depression Postpartum	Associate	36724785
Developmental Disabilities	Associate	32061250
Growth Disorders	Associate	36724785
Intellectual Disability	Associate	32061250, 36724785

TTI2 (TELO2 interacting protein 2)