Version 5.4
Homo sapiens Protein: TTI2
Summary
InnateDB Protein IDBP-16595.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTI2
Protein Name Tel2 interacting protein 2 homolog (S. pombe)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000353971
InnateDB Gene IDBG-16593 (TTI2)
Protein Structure
UniProt Annotation
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 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. {ECO:0000269PubMed:20801936, ECO:0000269PubMed:20810650}.
Subcellular Localization
Disease Associations Mental retardation, autosomal recessive 39 (MRT39) [MIM:615541]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements. {ECO:0000269PubMed:23956177}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 14 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
Biological Process
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR016024 Armadillo-type fold
IPR018870 Protein of unknown function DUF2454
PFAM PF10521
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6NXR4
PhosphoSite PhosphoSite-Q6NXR4
TrEMBL E5RHM7
UniProt Splice Variant
Entrez Gene 80185
UniGene Hs.77135
RefSeq
HUGO HGNC:26262
OMIM 614426
CCDS CCDS6090
HPRD 13390
IMGT
EMBL AC091144 AK026916 BC007387 BC066935 CH471080
GenPept AAH07387 AAH66935 BAB15590 EAW63397 EAW63398

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca