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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TTI2 Gene

protein-coding   GIFtS: 40
GCID: GC08M033330

TELO2 interacting protein 2

(Previous names: chromosome 8 open reading frame 41, Tel2 interacting protein...)
(Previous symbol: C8orf41)
  Search for TTI2
in our new
 Human Malady Compendium 
Biological research products
for TTI2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
TELO2 Interacting Protein 21 2     Tel2 Interacting Protein 2 Homolog (S. Pombe)1
C8orf411 2 3     Tel2 Interacting Protein 2 Homolog2
FLJ232631     TELO2-Interacting Protein 22
Chromosome 8 Open Reading Frame 411     

External Ids:    HGNC: 262621   Entrez Gene: 801852   Ensembl: ENSG000001296967   OMIM: 6144265   UniProtKB: Q6NXR43   

Export aliases for TTI2 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TTI2_HUMAN, Q6NXR4
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TTI2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TTI2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTI2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p12   Ensembl cytogenetic band:  8p12   HGNC cytogenetic band: 8p12

TTI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTI2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M033330:  view genomic region     (about GC identifiers)

Start:
33,330,904 bp from pter      End:
33,371,119 bp from pter
Size:
40,216 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TTI2_HUMAN, Q6NXR4 (See protein sequence)
Recommended Name: TELO2-interacting protein 2  
Size: 508 amino acids; 56915 Da
Subunit: Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with TELO2 and TTI1
Secondary accessions: D3DSV7 Q96IM2 Q9H5N4

Explore the universe of human proteins at neXtProt for TTI2: NX_Q6NXR4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6NXR4

  • TTI2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001095871.1  NP_001252510.1  NP_079391.2  

    ENSEMBL proteins: 
     ENSP00000353971   ENSP00000411169   ENSP00000429257   ENSP00000428401   ENSP00000429838  
     ENSP00000428569  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TTI2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR018870 DUF2454

    Graphical View of Domain Structure for InterPro Entry Q6NXR4

    ProtoNet protein and cluster: Q6NXR4

    UniProtKB/Swiss-Prot: TTI2_HUMAN, Q6NXR4
    Similarity: Belongs to the TTI2 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TTI2_HUMAN, Q6NXR4
    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

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTI2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/15 Interacting proteins for TTI2 (Q6NXR43 ENSP000003539714) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKDCP785273, ENSP000003134204I2D: score=1 STRING: ENSP00000313420
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=1 STRING: ENSP00000221413
    TELO2Q9Y4R83, ENSP000002623194I2D: score=1 STRING: ENSP00000262319
    TTI1O431563, ENSP000003625464I2D: score=1 STRING: ENSP00000362546
    HSP90AA1P079003, ENSP000003351534I2D: score=1 STRING: ENSP00000335153
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TTI2
    Search CenterWatch for drugs/clinical trials and news about TTI2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTI2 gene (3 alternative transcripts): 
    NM_001102401.2  NM_001265581.1  NM_025115.3  

    Unigene Cluster for TTI2:

    TELO2 interacting protein 2
    Hs.77135  [show with all ESTs]
    Unigene Representative Sequence: NM_025115
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519356(uc010lvu.1) ENST00000360742(uc003xjn.1 uc003xjl.4)
    ENST00000431156(uc003xjm.4) ENST00000522668 ENST00000520636 ENST00000520397
    ENST00000523305

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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK026916.1 AK308918.1 BC007387.2 BC066935.1 BX648410.1 

    7 DOTS entries:

    DT.40116397  DT.97840279  DT.121489858  DT.417148  DT.100762942  DT.100776654  DT.102831216 

    24/110 AceView cDNA sequences (see all 110):

    AA829822 CR598770 BE673408 CR609158 BU629396 AA194856 BC066935 AI914967 
    CD517896 AL530920 AW665777 CR613354 BX648410 CD742703 AA808673 BI914526 
    BM550924 BE743064 BP370362 AA235279 AA302602 CB048387 AA928069 BG772307 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TTI2    About this scheme

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


    ECgene alternative splicing isoforms for TTI2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TTI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAACATACTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TTI2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTI2

    SOURCE GeneReport for Unigene cluster: Hs.77135
        SABiosciences Custom PCR Arrays for TTI2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTI2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TTI2 gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tti21 , 5 TELO2 interacting protein 21, 5 78.66(n)1
    72.73(a)1
      8 (18.03 cM)5
    2341381  NM_001112729.11  NP_001106200.11 
     311503165 
    chicken
    (Gallus gallus)
    Aves TTI21 chromosome 8 open reading frame 41 62.75(n)
    60.41(a)
      426923  XM_424532.3  XP_424532.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003342301 uncharacterized protein C8orf41 homolog 50.46(n)
    44.78(a)
      100334230  XM_002663205.2  XP_002663251.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/425 NCBI SNPs in TTI2 are shown (see all 425    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1442292301,2
    --33355601(+) AGAGCA/GAGACT 4 -- int1 ds50010--------
    rs105725241,2
    C--33355615(+) TCTCC-/AA    
       AAAAA
    AAAAA
    4 -- ds5001 int10--------
    rs1130441601,2
    C,--33355660(+) GTGGCA/GGTTGC 4 -- int1 ds50012Minor allele frequency- G:0.33WA CSA 3
    rs26764191,2
    C,F,A,H,--33355886(+) GACAAT/GGAAGG 4 -- int1 ds500124Minor allele frequency- G:0.40NS EA NA WA CSA 2046
    rs747815791,2
    F,--33355891(+) GGAAGG/AGAGTT 4 -- int1 ds50011Minor allele frequency- A:0.02EA 120
    rs1861091151,2
    C,--33355917(+) TTTTCC/TCTCTT 4 -- ds5001 int10--------
    rs1922175831,2
    C,--33355942(+) CTCCCC/TGTAAT 4 -- ds5001 int10--------
    rs1999983811,2
    C--33356191(+) GAACTG/TTTTTT 4 -- ut310--------
    rs114455241,2
    C--33356192(+) TTTTTT/-TTTTT 4 -- ut311Minor allele frequency- -:0.00NA 2
    rs2016752151,2
    C--33356210(-) TTTAAA/GATAAA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for TTI2 (33330904 - 33371119 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TTI2: --
    Human Gene Mutation Database (HGMD): TTI2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TTI2 for disorders           About MalaCards

    TTI2 for disorders           About GeneDecksing

    OMIM gene information: 614426    OMIM disorders: --


    Export disorders for TTI2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TTI2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with TTI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genetic screen identifies the Triple T complex requ ired for DNA damage signaling and ATM and ATR stability. (PubMed id 20810650)1, 2, 3 Hurov K.E....Elledge S.J. (2010)
    2. Tel2 structure and function in the Hsp90-dependent ma turation of mTOR and ATR complexes. (PubMed id 20801936)1, 2, 3 Takai H....Pavletich N.P. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    10. Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme. (PubMed id 17643375)1 Jeronimo C.... Coulombe B. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80185 HGNC: 26262 AceView: FLJ23263 Ensembl:ENSG00000129696 euGenes: HUgn80185
    ECgene: TTI2 H-InvDB: TTI2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TTI2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTI2 gene:
    Search GeneIP for patents involving TTI2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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