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Aliases for TTI2 Gene

Aliases for TTI2 Gene

  • TELO2 Interacting Protein 2 2 3 5
  • C8orf41 3 4
  • Tel2 Interacting Protein 2 Homolog (S. Pombe) 2
  • Chromosome 8 Open Reading Frame 41 2
  • Tel2 Interacting Protein 2 Homolog 3
  • TELO2-Interacting Protein 2 3
  • MRT39 3

External Ids for TTI2 Gene

Previous HGNC Symbols for TTI2 Gene

  • C8orf41

Previous GeneCards Identifiers for TTI2 Gene

  • GC08M033330

Summaries for TTI2 Gene

Entrez Gene Summary for TTI2 Gene

  • 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 to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

GeneCards Summary for TTI2 Gene

TTI2 (TELO2 Interacting Protein 2) is a Protein Coding gene. Diseases associated with TTI2 include Mental Retardation, Autosomal Recessive 39. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for TTI2 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTI2 Gene

Genomics for TTI2 Gene

Regulatory Elements for TTI2 Gene

Enhancers for TTI2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G033470 1.1 ENCODE 24.7 +41.3 41298 3.2 HNRNPUL1 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FUT10 TTI2 ENSG00000272338 SNORD13 LOC100630919 RPL10P18 ENSG00000252505 RNF122 LOC100507379
GH08G033553 1.4 Ensembl ENCODE dbSUPER 11.6 -43.3 -43328 7.5 HDGF PKNOX1 FOXA2 CBX5 ZNF143 JUNB PPARG TBX21 ZNF610 SMARCA4 FUT10 LOC100630919 SNORD13 TTI2 RNF122 RPL10P18 GC08P033547
GH08G033511 1.2 ENCODE 11.3 -0.1 -60 3.4 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF548 ZNF263 SP3 NFYC FUT10 MAK16 TTI2 RNF122 LOC100630919
GH08G033574 0.9 FANTOM5 Ensembl 12 -61.2 -61183 0.8 TBP CREB3L1 SMAD5 NR4A1 ELF4 SREBF1 POLR2A NFYB SUPT5H MGA FUT10 LOC100630919 SNORD13 TTI2 ENSG00000252505 RPL10P18 MAK16 RNF122 RN7SL621P
GH08G033580 0.8 ENCODE 12 -67.9 -67917 1.6 ELF3 TBP ATF1 ARID4B DMAP1 ZNF48 ZSCAN9 CREM MIXL1 THAP11 FUT10 LOC100630919 SNORD13 TTI2 ENSG00000252505 RPL10P18 MAK16 RNF122 GC08P033581 DUSP26
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTI2 on UCSC Golden Path with GeneCards custom track

Promoters for TTI2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000223338 201 3201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF548 SP3 NFYC TBX21

Genomic Location for TTI2 Gene

Chromosome:
8
Start:
33,473,386 bp from pter
End:
33,513,601 bp from pter
Size:
40,216 bases
Orientation:
Minus strand

Genomic View for TTI2 Gene

Genes around TTI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTI2 Gene

Proteins for TTI2 Gene

  • Protein details for TTI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NXR4-TTI2_HUMAN
    Recommended name:
    TELO2-interacting protein 2
    Protein Accession:
    Q6NXR4
    Secondary Accessions:
    • D3DSV7
    • Q96IM2
    • Q9H5N4

    Protein attributes for TTI2 Gene

    Size:
    508 amino acids
    Molecular mass:
    56915 Da
    Quaternary structure:
    • Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with TELO2 and TTI1 (PubMed:20801936, PubMed:20810650). Interacts with WAC; WAC positively regulates MTOR activity by promoting the assembly of the TTT complex and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex which leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014).

neXtProt entry for TTI2 Gene

Post-translational modifications for TTI2 Gene

  • Ubiquitination at posLast=479479, posLast=488488, and Lys495
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTI2 Gene

Domains & Families for TTI2 Gene

Gene Families for TTI2 Gene

Protein Domains for TTI2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6NXR4

UniProtKB/Swiss-Prot:

TTI2_HUMAN :
  • Belongs to the TTI2 family.
Family:
  • Belongs to the TTI2 family.
genes like me logo Genes that share domains with TTI2: view

No data available for Suggested Antigen Peptide Sequences for TTI2 Gene

Function for TTI2 Gene

Molecular function for TTI2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for TTI2 Gene

genes like me logo Genes that share phenotypes with TTI2: view

Human Phenotype Ontology for TTI2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TTI2 Gene

miRTarBase miRNAs that target TTI2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TTI2 Gene

Localization for TTI2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTI2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for TTI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TTI2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TTI2 Gene

Pathways & Interactions for TTI2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTI2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TTI2 Gene

Drugs & Compounds for TTI2 Gene

No Compound Related Data Available

Transcripts for TTI2 Gene

Unigene Clusters for TTI2 Gene

TELO2 interacting protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTI2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -
SP3: -
SP4:

Relevant External Links for TTI2 Gene

GeneLoc Exon Structure for
TTI2
ECgene alternative splicing isoforms for
TTI2

Expression for TTI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTI2 Gene

Protein differential expression in normal tissues from HIPED for TTI2 Gene

This gene is overexpressed in Bone (47.2) and Breast (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTI2 Gene



Protein tissue co-expression partners for TTI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTI2 Gene:

TTI2

SOURCE GeneReport for Unigene cluster for TTI2 Gene:

Hs.77135

Evidence on tissue expression from TISSUES for TTI2 Gene

  • Intestine(4.1)
  • Skin(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTI2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • nose
  • outer ear
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TTI2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TTI2 Gene

Orthologs for TTI2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TTI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTI2 34 35
  • 98.95 (n)
dog
(Canis familiaris)
Mammalia TTI2 34 35
  • 83.57 (n)
cow
(Bos Taurus)
Mammalia TTI2 34
  • 83.4 (n)
C27H8ORF41 35
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tti2 34
  • 79.2 (n)
mouse
(Mus musculus)
Mammalia Tti2 34 16 35
  • 78.66 (n)
oppossum
(Monodelphis domestica)
Mammalia TTI2 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTI2 34 35
  • 62.75 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tti2 34
  • 57.37 (n)
zebrafish
(Danio rerio)
Actinopterygii tti2 34 35
  • 50.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3366 35
  • 26 (a)
OneToOne
Species where no ortholog for TTI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TTI2 Gene

ENSEMBL:
Gene Tree for TTI2 (if available)
TreeFam:
Gene Tree for TTI2 (if available)

Paralogs for TTI2 Gene

No data available for Paralogs for TTI2 Gene

Variants for TTI2 Gene

Sequence variations from dbSNP and Humsavar for TTI2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs398122367 Pathogenic, Mental retardation, autosomal recessive 39 (MRT39) [MIM:615541] 33,500,443(-) ACTGA(A/T)TTGTG reference, missense, utr-variant-3-prime
rs398122366 Pathogenic 33,503,763(-) CCTGC(A/C/T)GGCTT reference, missense
rs1000076670 -- 33,508,280(+) GTTTC(C/T)AGATC intron-variant
rs1000227776 -- 33,510,108(+) AAATA(A/G)CTTCC intron-variant
rs1000666036 -- 33,509,691(+) ACAGC(C/T)AGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTI2 Gene

Variant ID Type Subtype PubMed ID
nsv6146 CNV deletion 18451855

Variation tolerance for TTI2 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTI2 Gene

Human Gene Mutation Database (HGMD)
TTI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTI2 Gene

Disorders for TTI2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TTI2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 39
  • severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TTI2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTI2_HUMAN
  • 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:0000269 PubMed:23956177}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTI2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTI2
genes like me logo Genes that share disorders with TTI2: view

No data available for Genatlas for TTI2 Gene

Publications for TTI2 Gene

  1. Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes. (PMID: 20801936) Takai H. … Pavletich N.P. (Genes Dev. 2010) 2 3 4 64
  2. A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability. (PMID: 20810650) Hurov K.E. … Elledge S.J. (Genes Dev. 2010) 2 3 4 64
  3. Mutation in TTI2 reveals a role for triple T complex in human brain development. (PMID: 23956177) Langouet M. … Colleaux L. (Hum. Mutat. 2013) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TTI2 Gene

Sources for TTI2 Gene

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