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TTC18 Gene

protein-coding   GIFtS: 44
GCID: GC10M075013

Tetratricopeptide Repeat Domain 18

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TTC18 Gene:
TTC18 (tetratricopeptide repeat domain 18) is a protein-coding gene.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for TTC18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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


See TTC18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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)
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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


Find genes that share domains with TTC18           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with TTC18           About GenesLikeMe


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

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for TTC18

miRNA
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miRTarBase miRNAs that target TTC18:
hsa-mir-335-5p (MIRT017870)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
golgi apparatus1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0070062extracellular vesicular exosome IDA19056867

Find genes that share ontologies with TTC18           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTC18
Interactions:

    Search GeneGlobe Interaction Network for TTC18

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TTC18 gene: 
NM_145170.3  

Unigene Cluster for TTC18:

Tetratricopeptide repeat domain 18
Hs.591367  [show with all ESTs]
Unigene Representative Sequence: NM_145170
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
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Additional mRNA sequence: 

AF435958.1 AF435959.1 AK098631.1 AK308746.1 BC032856.2 

9 DOTS entries:

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

Selected AceView cDNA sequences (see all 61):

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

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TTC18 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 2) fully expand
 
 Heart (Cardiovascular System)
         Atrioventricular Node
 
 Testis (Reproductive System)
TTC18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TTC18 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.591367
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of chordates.

Orthologs for TTC18 gene from Selected 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 64.93(n)
58.32(a)
  769473  XM_001232753.3  XP_001232754.3 
lizard
(Anolis carolinensis)
Reptilia TTC186
tetratricopeptide repeat domain 18
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 si:dkey-254e1.11 si:dkey-254e1.1 56.1(n)
50.43(a)
  564542  XM_687871.6  XP_692963.4 


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)
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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TTC18 (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
----------
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--------
rs1834193791,2
--75037674(+) ATTCAC/GATCTT 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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TTC18
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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.)
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Find genes that share disorders with TTC18           About GenesLikeMe

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)
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PubMed articles for TTC18 gene integrated from 10 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. (Am. J. Hum. Genet. 2006)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
  4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (Nature 2004)
  6. 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. (Genome Res. 2004)
  7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 118491 HGNC: 30726 AceView: TTC18 Ensembl:ENSG00000156042 euGenes: HUgn118491
ECgene: TTC18 H-InvDB: TTC18

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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