Human Gene TTI2 (uc003xjm.5) Description and Page Index
  Description: Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 1, mRNA.
RefSeq Summary (NM_001102401): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: BC066935.1, SRR1803617.55660.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr8:33,356,027-33,370,703 Size: 14,677 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr8:33,356,691-33,370,131 Size: 13,441 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:33,356,027-33,370,703)mRNA (may differ from genome)Protein (508 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=TELO2-interacting protein 2;
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.
SUBUNIT: Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with TELO2 and TTI1.
SIMILARITY: Belongs to the TTI2 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: TTI2
Diseases sorted by gene-association score: mental retardation, autosomal recessive 39* (1679)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D019256 Cadmium Chloride

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.98 RPKM in Testis
Total median expression: 163.30 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.32203-0.351 Picture PostScript Text
3' UTR -153.00664-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR018870 - DUF2454

Pfam Domains:
PF10521 - Tti2 family

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q6NXR4
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005654 nucleoplasm
GO:0005813 centrosome
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  JF432833 - Synthetic construct Homo sapiens clone IMAGE:100074152 chromosome 8 open reading frame 41 (C8orf41) gene, encodes complete protein.
AK308918 - Homo sapiens cDNA, FLJ98959.
LF208073 - JP 2014500723-A/15576: Polycomb-Associated Non-Coding RNAs.
CU690709 - Synthetic construct Homo sapiens gateway clone IMAGE:100021361 3' read RBM13 mRNA.
AK026916 - Homo sapiens cDNA: FLJ23263 fis, clone COL06129.
BC066935 - Homo sapiens chromosome 8 open reading frame 41, mRNA (cDNA clone MGC:87253 IMAGE:4839169), complete cds.
JD563212 - Sequence 544236 from Patent EP1572962.
BX648410 - Homo sapiens mRNA; cDNA DKFZp686F16235 (from clone DKFZp686F16235).
BC007387 - Homo sapiens chromosome 8 open reading frame 41, mRNA (cDNA clone MGC:16267 IMAGE:3830500), complete cds.
KJ894790 - Synthetic construct Homo sapiens clone ccsbBroadEn_04184 TTI2 gene, encodes complete protein.
KJ899617 - Synthetic construct Homo sapiens clone ccsbBroadEn_09011 TTI2 gene, encodes complete protein.
CU688204 - Synthetic construct Homo sapiens gateway clone IMAGE:100021200 5' read C8orf41 mRNA.
JD442084 - Sequence 423108 from Patent EP1572962.
JD254213 - Sequence 235237 from Patent EP1572962.
JD106417 - Sequence 87441 from Patent EP1572962.
MA443650 - JP 2018138019-A/15576: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C8orf41, D3DSV7, NM_001102401, NP_079391, Q6NXR4, Q96IM2, Q9H5N4, TTI2_HUMAN, uc003xjm.4
UCSC ID: uc003xjm.5
RefSeq Accession: NM_001102401
Protein: Q6NXR4 (aka TTI2_HUMAN)
CCDS: CCDS6090.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001102401.2
exon count: 8CDS single in 3' UTR: no RNA size: 2394
ORF size: 1527CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3245.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.