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TTC8 Gene

protein-coding   GIFtS: 55
GCID: GC14P089290

Tetratricopeptide Repeat Domain 8

  See TTC8-related diseases
at  

(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 81 2     Bardet-Biedl Syndrome Type 82
BBS82 3 5     Tetratricopeptide Repeat Protein 82
TPR Repeat Protein 82 3     Bardet-Biedl Syndrome 8 Protein3
RP512 5     

External Ids:    HGNC: 200871   Entrez Gene: 1230162   Ensembl: ENSG000001655337   OMIM: 6081325   UniProtKB: Q8TAM23   

Export aliases for TTC8 gene to outside databases

Previous GC identifers: GC14P083107 GC14P087280 GC14P087281 GC14P088360 GC14P069465


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TTC8 Gene:
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this
syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities.
Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is
involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis
pigmentosa. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jan 2014)

GeneCards Summary for TTC8 Gene:
TTC8 (tetratricopeptide repeat domain 8) is a protein-coding gene. Diseases associated with TTC8 include bardet-biedl syndrome 8, and ttc8-related retinitis pigmentosa. An important paralog of this gene is BBS4.

UniProtKB/Swiss-Prot: TTC8_HUMAN, Q8TAM2
Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar
satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which
localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension
of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the
guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and
fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1,
controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for
proper BBSome complex assembly and its ciliary localization

Gene Wiki entry for TTC8 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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC8 gene promoter:
         Oct-B1   E2F-4   E2F-3a   E2F-5   oct-B3   oct-B2   E2F-2   C/EBPalpha   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC8 promoter sequence
   Search Chromatin IP Primers for TTC8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC8


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

Entrez Gene cytogenetic band: 14q31.3   Ensembl cytogenetic band:  14q31.3   HGNC cytogenetic band: 14q31.3

TTC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC8 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P089290:  view genomic region     (about GC identifiers)

Start:
89,290,497 bp from pter      End:
89,344,335 bp from pter
Size:
53,839 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TTC8_HUMAN, Q8TAM2 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 8  
Size: 541 amino acids; 61534 Da
Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts
with PCM1. Interacts with CCDC28B
Sequence caution: Sequence=CAD61928.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAD62360.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6NFG2 B3KWA5 Q67B97 Q86SY0 Q86TV9 Q86U26 Q8NDH9 Q96DG8
Alternative splicing: 5 isoforms:  Q8TAM2-1   Q8TAM2-2   Q8TAM2-3   Q8TAM2-4   Q8TAM2-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC8: NX_Q8TAM2

Explore proteomics data for TTC8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys503, Lys516, Lys532
  • Modification sites at PhosphoSitePlus

  • See TTC8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001275710.1  NP_001275711.1  NP_001275712.1  NP_653197.2  NP_938051.1  NP_938052.1  

    ENSEMBL proteins: 
     ENSP00000451034   ENSP00000450905   ENSP00000339486   ENSP00000298324   ENSP00000337653  
     ENSP00000346427   ENSP00000370031   ENSP00000450951   ENSP00000450993   ENSP00000452354  
     ENSP00000451955   ENSP00000351439   ENSP00000445067  

    TTC8 Human Recombinant Protein Products:

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    Novus Biologicals TTC8 Proteins
    Novus Biologicals TTC8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TTC8

     
    Search eBioscience for Proteins for TTC8 

    TTC8 Antibody Products:

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    Abcam antibodies for TTC8
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    TTC8 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TTC8
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    Search eBioscience for ELISAs for TTC8 


    (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

    Selected InterPro protein domains (see all 6):
     IPR011990 TPR-like_helical
     IPR028796 TTC8/BBS8
     IPR001440 TPR_1
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8TAM2

    ProtoNet protein and cluster: Q8TAM2

    UniProtKB/Swiss-Prot: TTC8_HUMAN, Q8TAM2
    Similarity: Contains 8 TPR repeats


    Find genes that share domains with TTC8           About GenesLikeMe


    (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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTC8_HUMAN, Q8TAM2
    Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
    proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar
    satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which
    localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension
    of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the
    guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and
    fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1,
    controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for
    proper BBSome complex assembly and its ciliary localization

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001103RNA polymerase II repressing transcription factor binding IPI--
    GO:0005515protein binding IPI14520415
         
    Find genes that share ontologies with TTC8           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ttc8):
     cellular  craniofacial  growth/size/body  mortality/aging  nervous system 
     renal/urinary system  respiratory system  taste/olfaction  vision/eye 

    Find genes that share phenotypes with TTC8           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTC8
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTC8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TTC8

    miRNA
    Products:
        
    miRTarBase miRNAs that target TTC8:
    hsa-mir-125a-3p (MIRT038637), hsa-mir-197-3p (MIRT048124), hsa-mir-124-3p (MIRT022749), hsa-mir-373-3p (MIRT002556)

    Block miRNA regulation of human, mouse, rat TTC8 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate TTC8:
    hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidTTC8 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TTC8
    Predesigned siRNA for gene silencing in human, mouse, rat TTC8

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): TTC8 (NM_198309)
    Sino Biological Human cDNA Clone for TTC8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC8

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC8


    (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 UniProtKB/Swiss-Prot
    TTC8_HUMAN, Q8TAM2: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium
    membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol2
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA14520415
    GO:0005929cilium IDA14520415
    GO:0032391photoreceptor connecting cilium IEA--
    GO:0034464BBSome IDA17574030

    Find genes that share ontologies with TTC8           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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        Pathway & Disease-focused RT2 Profiler PCR Array including TTC8: 
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TTC8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for TTC8 (Q8TAM21, 3 ENSP000003700314) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS9Q3SYG41, 3, ENSP000002420674EBI-2892638,EBI-2826852 I2D: score=1 STRING: ENSP00000242067
    PCM1Q151543, ENSP000003270774I2D: score=1 STRING: ENSP00000327077
    BBS4Q96RK43, ENSP000002680574I2D: score=1 STRING: ENSP00000268057
    BBS1Q8NFJ93I2D: score=1 
    BBS2ENSP000002451574STRING: ENSP00000245157
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance IEA--
    GO:0007608sensory perception of smell IEA--
    GO:0015031protein transport IEA--
    GO:0021772olfactory bulb development IEA--
    GO:0032880regulation of protein localization IEA--

    Find genes that share ontologies with TTC8           About GenesLikeMe



    (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 TTC8



    (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 TTC8 gene (6 alternative transcripts): 
    NM_001288781.1  NM_001288782.1  NM_001288783.1  NM_144596.3  NM_198309.3  NM_198310.3  

    Unigene Cluster for TTC8:

    Tetratricopeptide repeat domain 8
    Hs.303055  [show with all ESTs]
    Unigene Representative Sequence: BX537546
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556077(uc010atg.1) ENST00000553718 ENST00000345383(uc001xxi.3 uc001xxj.3 uc001xxk.3 uc010ati.3 uc010atj.3)
    ENST00000556567 ENST00000346301 ENST00000338104(uc010ath.3) ENST00000354441
    ENST00000380656 ENST00000555057 ENST00000556651 ENST00000554686 ENST00000556133
    ENST00000557580 ENST00000358622 ENST00000536576(uc001xxl.3)
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate TTC8:
    hsa-miR-30c hsa-miR-30a hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidTTC8 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TTC8 (NM_198309)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC8
    Primer
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    OriGene qPCR primer pairs and template standards for TTC8
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TTC8
      QuantiTect SYBR Green Assays in human, mouse, rat TTC8
      QuantiFast Probe-based Assays in human, mouse, rat TTC8

    Additional mRNA sequence: 

    AF086168.1 AK093891.1 AK124675.1 AK296077.1 AK315772.1 AL833901.1 AY366523.1 AY366524.1 
    AY373972.1 BC001563.1 BC026351.1 BC095433.1 BX161472.1 BX247959.1 BX248071.1 BX248248.1 
    BX537546.1 

    14 DOTS entries:

    DT.97816445  DT.100024659  DT.95374640  DT.91742342  DT.99949821  DT.100715888  DT.100794315  DT.86857220 
    DT.91910007  DT.100794308  DT.100794309  DT.100794312  DT.205052  DT.86852928 

    Selected AceView cDNA sequences (see all 175):

    BX248071 BQ069930 BQ220318 AX748355 BF449004 NM_198309 BF373308 BX247959 
    BP337420 BG035197 BI257899 AI440520 AV708384 CD672122 AI690735 NM_144596 
    NM_198310 BX161472 BM713643 AA954356 BQ011558 AF086168 AA972972 BC026351 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TTC8 (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                -     -           -                 -                             -                                                         
    SP2:                                      -           -                 -                       -     -                                                         
    SP3:                                -     -           -                 -     -     -           -                                                               
    SP4:                                -     -           -                 -                       -     -                                                         
    SP5:                                -     -           -                 -     -     -           -     -                                                         

    ExUns: 19a · 19b · 19c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for TTC8

    (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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    TTC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TTC8 Expression
    About this image


    TTC8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Ovary (Reproductive System)
     
     Prostate (Endocrine System)
    TTC8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.303055

    UniProtKB/Swiss-Prot: TTC8_HUMAN, Q8TAM2
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including TTC8: 
              Primary Cilia in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for TTC8
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    QuantiTect SYBR Green Assays in human, mouse, rat TTC8
    QuantiFast Probe-based Assays in human, mouse, rat TTC8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC8

    (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 animals.

    Orthologs for TTC8 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc81 , 5 tetratricopeptide repeat domain 81, 5 88.54(n)1
    95.34(a)1
      12 (49.88 cM)5
    762601  NM_198311.11  NP_938053.11 
     989205745 
    chicken
    (Gallus gallus)
    Aves TTC81 tetratricopeptide repeat domain 8 78.38(n)
    83.11(a)
      423401  XM_421311.4  XP_421311.3 
    lizard
    (Anolis carolinensis)
    Reptilia TTC86
    tetratricopeptide repeat domain 8
    82(a)
    1 ↔ 1
    1(13362216-13404775)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ttc81 tetratricopeptide repeat domain 8 75.31(n)
    80.2(a)
      733857  XM_002933198.2  XP_002933244.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk26c022 Danio rerio cDNA clone IMAGE7000885, partial cds 75.82(n)    BC062872.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BBS86
    BBS8
    28(a)
    1 ↔ 1
    2L(423417-425321)
    worm
    (Caenorhabditis elegans)
    Secernentea bbs-81 bbs-8 50.51(n)
    41.58(a)
      188904  NM_072310.4  NP_504711.2 


    ENSEMBL Gene Tree for TTC8 (if available)
    TreeFam Gene Tree for TTC8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTC8 gene
    BBS42  
    1 SIMAP similar gene for TTC8 using alignment to 8 protein entries:     TTC8_HUMAN (see all proteins):
    NARF

    Find genes that share paralogs with TTC8           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for TTC8 (see all 1020)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1191032861,2
    Cpathogenic170292194(+) GGAACG/AGTAAA 6 /T syn11Minor allele frequency- A:0.00NA 4332
    rs1378539221,2
    C,Funtested170303964(+) GTTTTC/TAAAGG 3 -- int11Minor allele frequency- T:0.01EU 1289
    rs1833710911,2
    --69503738(+) TATATA/TTATAT 3 -- int10--------
    rs1879565081,2
    --69503742(+) TATATA/TTATAT 3 -- int10--------
    rs1863897361,2
    --70273676(+) TCCTGG/TCTACC 3 -- us2k10--------
    rs1157180241,2
    C,F--70273728(+) CCCCAG/ATCCTA 3 -- us2k11Minor allele frequency- A:0.12WA 118
    rs796661261,2
    F--70273770(+) CTGGAA/GTTGGG 3 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1919892261,2
    C--70273773(+) GAATTC/GGGACA 3 -- us2k10--------
    rs71444591,2
    C,F,A,H--70273931(+) TGGTAT/CCCTAA 3 -- us2k124Minor allele frequency- C:0.42NS EA NA WA CSA 2324
    rs1427153711,2
    --70273992(+) AAATAA/TACTGT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for TTC8 (89290497 - 89344335 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TTC8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832850CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): TTC8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTC8
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608132   
    OMIM disorders: 209900  613464  
    UniProtKB/Swiss-Prot: TTC8_HUMAN, Q8TAM2
  • Retinitis pigmentosa 51 (RP51) [MIM:613464]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Bardet-Biedl syndrome 8 (BBS8) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 9 diseases for TTC8:    
    About MalaCards
    bardet-biedl syndrome 8    ttc8-related retinitis pigmentosa    ttc8-related bardet-biedl syndrome    retinitis pigmentosa 51
    bardet-biedl syndrome    polydactyly    bardet-biedl syndrome, modifier of    obesity
    leber congenital amaurosis

    3 diseases from the University of Copenhagen DISEASES database for TTC8:
    Bardet-Biedl syndrome     Polydactyly     Retinitis pigmentosa

    Find genes that share disorders with TTC8           About GenesLikeMe

    3 Novoseek inferred disease relationships for TTC8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bardet-biedl syndrome 92 2 16308660 (2)
    polydactyly 86.6 1 16308660 (1)
    obesity 46.9 1 16308660 (1)

    GeneTests: TTC8
    GeneReviews: TTC8
    Genetic Association Database (GAD): TTC8
    Human Genome Epidemiology (HuGE) Navigator: TTC8 (3 documents)

    Export disorders for TTC8 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 TTC8 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with TTC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. (PubMed id 20451172)1, 2, 3 Riazuddin S.A....Katsanis N. (Am. J. Hum. Genet. 2010)
    2. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. (PubMed id 14520415)1, 2, 3 Ansley S.J.... Katsanis N. (Nature 2003)
    3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    4. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (PubMed id 19402160)1, 4 Bin J....HAcon E. (Hum. Mutat. 2009)
    5. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PubMed id 19077438)1, 4 Chung W.K....Tiwari H.K. (Hum. Hered. 2009)
    6. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (PubMed id 17574030)1, 2 Nachury M.V....Jackson P.K. (Cell 2007)
    7. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L.... Katsanis N. (Nature 2006)
    8. 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. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. (PubMed id 16308660)2, 9 Stoetzel C.... Dollfus H. (J. Hum. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 123016 HGNC: 20087 AceView: TTC8 Ensembl:ENSG00000165533 euGenes: HUgn123016
    ECgene: TTC8 H-InvDB: TTC8

    (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 TTC8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TTC8[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TTC8 gene:
    Search GeneIP for patents involving TTC8

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



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