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

TTC18 Gene

protein-coding   GIFtS: 43
GCID: GC10M075013

Tetratricopeptide Repeat Domain 18

Alzheimer's & Parkinson's Diseases Congress
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tetratricopeptide Repeat Domain 181 2
TPR Repeat Protein 182 3
Tetratricopeptide Repeat Protein 182
Tetratricopeptide Repeat-Containing Protein (LOC118491)2

External Ids:    HGNC: 307261   Entrez Gene: 1184912   Ensembl: ENSG000001560427   UniProtKB: Q5T0N13   

Export aliases for TTC18 gene to outside databases

Previous GC identifers: GC10M074359 GC10M074683 GC10M069007


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

GeneCards Summary for TTC18 Gene: 
TTC18 (tetratricopeptide repeat domain 18) is a protein-coding gene. Diseases associated with TTC18 include alzheimer's disease.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC18 gene promoter:
         Tal-1   GATA-3   Nkx2-5   Tal-1beta   Evi-1   E47   GATA-1   GATA-2   RORalpha1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC18 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTC18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC18


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

Entrez Gene cytogenetic band: 10q22.2   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22.3

TTC18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC18 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M075013:  view genomic region     (about GC identifiers)

Start:
75,013,516 bp from pter      End:
75,118,617 bp from pter
Size:
105,102 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TTC18_HUMAN, Q5T0N1 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 18  
Size: 1121 amino acids; 125689 Da
Sequence caution: Sequence=AAM20910.1; Type=Frameshift; Positions=Several; Sequence=BAC05358.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAI15293.1; Type=Erroneous gene model prediction;
Sequence=CAI15294.1; Type=Erroneous gene model prediction; Sequence=CAI15295.1; Type=Erroneous gene model
prediction; Sequence=CAI15296.1; Type=Erroneous gene model prediction;
Secondary accessions: C9JIZ9 Q5T0M4 Q5T0M9 Q5T0N0 Q69YH9 Q8IYZ8 Q8N7D5 Q8NI30 Q8NI31
Alternative splicing: 3 isoforms:  Q5T0N1-1   Q5T0N1-2   Q5T0N1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC18: NX_Q5T0N1

Explore proteomics data for TTC18 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5T0N1

  • TTC18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TTC18 Protein Expression
    REFSEQ proteins: NP_660153.3  
    ENSEMBL proteins: 
     ENSP00000409527   ENSP00000343650   ENSP00000347781   ENSP00000310829   ENSP00000384479  
     ENSP00000378334  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTC: Tetratricopeptide (TTC) repeat domain containing

    3 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q5T0N1

    ProtoNet protein and cluster: Q5T0N1

    UniProtKB/Swiss-Prot: TTC18_HUMAN, Q5T0N1
    Similarity: Contains 8 TPR repeats


    TTC18 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TTC18 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC18:
     Wnt reporter downregulated 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TTC18 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTC18

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TTC18

    Search CenterWatch for drugs/clinical trials and news about TTC18

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTC18 gene: 
    NM_145170.3  

    Unigene Clusters for TTC18:

    Tetratricopeptide repeat domain 18
    Hs.591367  [show with all ESTs], Hs.720588
    Unigene Representative Sequences: NM_145170, AK022235
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462684 ENST00000495161 ENST00000433268 ENST00000493787(uc009xrd.1)
    ENST00000340329 ENST00000355577 ENST00000310715(uc009xrc.3) ENST00000401621(uc001jtv.4 uc001jtw.4 uc001jtx.3 uc001jty.3)
    ENST00000394865

    miRNA
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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of TTC18 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTC18
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTC18

    Additional mRNA sequence: AK022235.1 

    10 DOTS entries:

    DT.311787  DT.100791253  DT.100021235  DT.100021236  DT.97764905  DT.121301389  DT.121301601  DT.86838809 
    DT.99951858  DT.99972372 

    24/61 AceView cDNA sequences (see all 61):

    AL833537 AW612223 AI684461 BQ019201 NM_145170 AW150097 CF528535 CD107987 
    BM273235 AA461405 BX093691 AA769128 AI204701 BX504241 AI538905 AL043737 
    CB853556 BC032856 AI027249 BM983163 AW300070 AI187125 AK098631 CK819959 

    GeneLoc Exon Structure


    (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

    TTC18 expression in normal human tissues (normalized intensities)      TTC18 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACTCTGAG
    TTC18 Expression
    About this image


    TTC18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Testis (Reproductive System)

    See TTC18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC18

    SOURCE GeneReport for Unigene clusters: Hs.591367 Hs.720588
        SABiosciences Custom PCR Arrays for TTC18
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC18

    (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 TTC18 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc181 , 5 tetratricopeptide repeat domain 181, 5 81.62(n)1
    81.92(a)1
      14 (11.53 cM)5
    766701  NM_029698.11  NP_083974.11 
     203941935 
    chicken
    (Gallus gallus)
    Aves TTC181 tetratricopeptide repeat domain 18 65.28(n)
    59.19(a)
      769473  XM_001232753.2  XP_001232754.2 
    lizard
    (Anolis carolinensis)
    Reptilia TTC186
    Uncharacterized protein
    63(a)
    1 ↔ 1
    GL344148.1(328-21504)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.138392 Transcribed sequences 72.4(n)    BX740230.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ttc181 tetratricopeptide repeat domain 18 56.23(n)
    50.54(a)
      564542  XM_687871.5  XP_692963.3 


    ENSEMBL Gene Tree for TTC18 (if available)
    TreeFam Gene Tree for TTC18 (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, 4UniProtKB, 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

    10/1682 SNPs in TTC18 are shown (see all 1682)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0328784
    ----see VAR_0328782 N D mis40--------
    rs1426022361,2
    C--75037247(+) GCAGGC/GAGATC 1 -- int10--------
    rs1469097941,2
    --75037255(+) ATCACA/GAGGTC 1 -- int10--------
    rs609936941,2
    C,F--75037268(+) GAGTTC/TGAGAC 1 -- int13Minor allele frequency- T:0.50NA CSA 6
    rs1133950091,2
    C,F--75037313(+) TAAAAT/ATACAA 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs1437038181,2
    C--75037342(+) GGAACA/GTGCCT 1 -- int10--------
    rs122690871,2
    C,A--75037386(+) GAATCA/GCTTGA 1 -- int13Minor allele frequency- G:0.17NA 6
    rs122690891,2
    C,F--75037403(+) GAGTCA/GGAGGT 1 -- int14Minor allele frequency- G:0.29NA CSA 7
    rs345079721,2
    C--75037469(+) AAAAA-/ATTCAG 1 -- int10--------
    rs1911618331,2
    --75037602(+) CAAAGA/GTTCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TTC18 (75013516 - 75118617 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TTC18:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831911CNV Loss17160897
    nsv825467CNV Loss20364138

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for TTC18:    About MalaCards
    alzheimer's disease    


    TTC18 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): TTC18
    Human Genome Epidemiology (HuGE) Navigator: TTC18 (1 document)

    Export disorders for TTC18 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 TTC18 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TTC18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 118491 HGNC: 30726 AceView: TTC18 Ensembl:ENSG00000156042 euGenes: HUgn118491
    ECgene: TTC18 H-InvDB: TTC18

    (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 TTC18 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 TTC18 gene:
    Search GeneIP for patents involving TTC18

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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