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

TTC8 Gene

protein-coding   GIFtS: 54
GCID: GC14P089290

Tetratricopeptide Repeat Domain 8

  See 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)
About This Section

Aliases
Tetratricopeptide Repeat Domain 81 2     RP512 5
BBS82 3 5     Bardet-Biedl Syndrome Type 82
Bardet-Biedl Syndrome 8 Protein2 3     Tetratricopeptide Repeat Protein 82
TPR Repeat Protein 82 3     

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

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. Alternate transcriptional splice variants have been characterized. (provided
by RefSeq, Jul 2008)

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 bardet-biedl syndrome. GO annotations related to this gene include protein binding. An important paralog of this gene is BBS4.

UniProtKB/Swiss-Prot: TTC8_HUMAN, Q8TAM2
Function: 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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TTC8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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, BBS9 and BBIP10. The BBSome
complex binds to PCM1 and tubulin. Interacts with PCM1. Interacts with CCDC28B
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium
membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TAM2

  • TTC8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TTC8 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_653197.2  NP_938051.1  NP_938052.1  

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

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    Cloud-Clone Corp. Proteins for TTC8 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA14520415
    GO:0005929cilium IDA14520415
    GO:0005932microtubule basal body IDA14520415
    GO:0032391photoreceptor connecting cilium IEA--

    TTC8 for ontologies           About GeneDecksing



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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

    5 InterPro protein domains:
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    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


    TTC8 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTC8_HUMAN, Q8TAM2
    Function: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14520415
         
    TTC8 for ontologies           About GeneDecksing


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

    TTC8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TTC8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TTC8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTC8 
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    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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    (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 TTC8

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

    5/10 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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance IEA--
    GO:0007608sensory perception of smell IEA--
    GO:0021772olfactory bulb development IEA--
    GO:0032880regulation of protein localization IEA--
    GO:0035264multicellular organism growth IEA--

    TTC8 for ontologies           About GeneDecksing



    (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 TTC8

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 TTC8 gene (3 alternative transcripts): 
    NM_144596.2  NM_198309.2  NM_198310.2  

    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)
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    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 

    24/175 AceView cDNA sequences (see all 175):

    AA452709 BG325217 AI095258 BX101666 BQ951663 CD106779 BM854394 BI766487 
    AY366523 BE256291 BF371487 BU738965 AY366524 CR593689 AK093891 AW297810 
    BF373313 BQ069930 BX248071 BQ220318 BX326168 BI914161 AY373972 BX248248 

    GeneLoc Exon Structure

    5/12 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™, 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

    TTC8 expression in normal human tissues (normalized intensities)      TTC8 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Prostate (Endocrine System)

    See TTC8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC8

    SOURCE GeneReport for Unigene cluster: Hs.303055

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

        SABiosciences Expression via Pathway-Focused PCR Array including TTC8: 
              Primary Cilia in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TTC8 gene from 6/14 species (see all 14)    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_421311.3  XP_421311.2 
    lizard
    (Anolis carolinensis)
    Reptilia TTC86
    Uncharacterized protein
    82(a)
    1 ↔ 1
    1(13362216-13404775)
    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 Protein BBS-8 50.64(n)
    41.58(a)
      188904  NM_072310.3  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)
    About This Section
    Paralogs for TTC8 gene
    BBS42  
    1 SIMAP similar gene for TTC8 using alignment to 8 protein entries:     TTC8_HUMAN (see all proteins):
    NARF

    TTC8 for paralogs           About GeneDecksing



    (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

    10/1020 SNPs in TTC8 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 19 diseases for TTC8:    About MalaCards
    bardet-biedl syndrome 8    ttc8-related bardet-biedl syndrome    retinitis pigmentosa 51    ttc8-related retinitis pigmentosa
    bardet-biedl syndrome    learning disability    polydactyly    asphyxiating thoracic dystrophy
    pigmentary retinopathy    meckel syndrome    obesity    rhyns syndrome
    retinal disease    retinitis pigmentosa    retinitis    blindness
    mental retardation    diabetes mellitus    hypertension

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

    TTC8 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for TTC8 gene, integrated from 9 sources (see all 23):
    (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 B BS8 causes nonsyndromic retinitis pigmentosa. (PubMed id 20451172)1, 2, 3 Riazuddin S.A....Katsanis N. (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. (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. (2010)
    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. (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. (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. (2007)
    7. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L....Katsanis N. (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. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. (PubMed id 16308660)2, 9 Stoetzel C.... Dollfus H. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 123016 HGNC: 20087 AceView: TTC8 Ensembl:ENSG00000165533 euGenes: HUgn123016
    ECgene: TTC8 H-InvDB: TTC8

    (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 TTC8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTC8

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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