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Aliases for TTI2 Gene

Aliases for TTI2 Gene

  • TELO2 Interacting Protein 2 2 3
  • C8orf41 3 4 6
  • MRT39 3 6
  • 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

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 and severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome.

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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTI2 Gene

Genomics for TTI2 Gene

Genomic Location for TTI2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTI2 Gene

No data available for Regulatory Elements 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.

neXtProt entry for TTI2 Gene

Proteomics data for TTI2 Gene at MOPED

Post-translational modifications for TTI2 Gene

  • Ubiquitination at Lys479, Lys488, and Lys495
  • Modification sites at PhosphoSitePlus

Other Protein References for TTI2 Gene

No data available for DME Specific Peptides for TTI2 Gene

Domains for TTI2 Gene

Protein Domains for TTI2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6NXR4

UniProtKB/Swiss-Prot:

TTI2_HUMAN :
  • Q6NXR4
Family:
  • Belongs to the TTI2 family.
genes like me logo Genes that share domains with TTI2: view

No data available for Gene Families and 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.

Gene Ontology (GO) - Molecular Function for TTI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
genes like me logo Genes that share ontologies with TTI2: view

miRNA for TTI2 Gene

miRTarBase miRNAs that target TTI2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TTI2 Gene

Localization for TTI2 Gene

Gene Ontology (GO) - Cellular Components for TTI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with TTI2: view

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

Pathways for TTI2 Gene

SuperPathways for TTI2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTI2 Gene

None

No data available for Pathways by source for TTI2 Gene

Transcripts for TTI2 Gene

Unigene Clusters for TTI2 Gene

TELO2 interacting protein 2:
Representative Sequences:

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 for TTI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTI2 Gene

SOURCE GeneReport for Unigene cluster for TTI2 Gene Hs.77135

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

No data available for 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 35
  • 98.95 (n)
  • 98.43 (a)
TTI2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C27H8ORF41 36
  • 80 (a)
OneToOne
TTI2 35
  • 83.4 (n)
  • 79.53 (a)
dog
(Canis familiaris)
Mammalia TTI2 35
  • 83.57 (n)
  • 78.56 (a)
TTI2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tti2 35
  • 78.66 (n)
  • 72.73 (a)
Tti2 16
Tti2 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTI2 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tti2 35
  • 79.2 (n)
  • 72.2 (a)
chicken
(Gallus gallus)
Aves TTI2 35
  • 62.75 (n)
  • 60.41 (a)
TTI2 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tti2 35
  • 57.37 (n)
  • 55.15 (a)
zebrafish
(Danio rerio)
Actinopterygii tti2 35
  • 50.46 (n)
  • 44.56 (a)
tti2 36
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3366 36
  • 26 (a)
OneToOne
Species with no ortholog for TTI2:
  • 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 MAF
rs2037217 -- 33,502,848(-) ccagc(C/G)ttttg intron-variant
rs2581894 -- 33,511,152(+) ATTCT(A/C)CTGCC intron-variant
rs2581900 -- 33,514,705(+) TGCTT(A/C)CATTT upstream-variant-2KB
rs2676420 -- 33,502,010(+) TCCAT(C/T)GCACC intron-variant
rs2676421 -- 33,504,221(+) GATTT(G/T)AGGAA intron-variant

Relevant External Links for TTI2 Gene

HapMap Linkage Disequilibrium report
TTI2
Human Gene Mutation Database (HGMD)
TTI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TTI2 Gene

Disorders for TTI2 Gene

(1) OMIM Diseases for TTI2 Gene (614426)

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.
genes like me logo Genes that share disorders with TTI2: view

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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. 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

Products for TTI2 Gene

Sources for TTI2 Gene

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