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GIFtS

TTC8 Gene

protein-coding   GIFtS: 51
GCID: GC14P089290

tetratricopeptide repeat domain 8
 Explore 14 diseases affiliated with
TTC8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TTC8    

Aliases
for TTC8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Tetratricopeptide Repeat Domain 81 2     TPR Repeat Protein 82 3
BBS81 2 3 5     Bardet-Biedl Syndrome Type 82
RP511 2 5     Tetratricopeptide Repeat Protein 82
Bardet-Biedl Syndrome 8 Protein2 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


Summaries
for TTC8 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
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 plasmid: TTC8 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

Proteins
for TTC8 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TAM2

    • TTC8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

    Human Recombinant Protein Products: 
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    Novus Biologicals TTC8 Proteins
    Novus Biologicals TTC8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TTC8

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    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



    TTC8 Antibody Products: 
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    Uscn ELISAs and CLIAs for TTC8

    Protein Domains /
    Families
    for TTC8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TTC8 for domains           About GeneDecksing

    5 InterPro domains/families:
     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


    Function
    for TTC8 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    hsa-mir-373 (MIRT002556)

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    5 QIAGEN miScript miRNA 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 plasmid: TTC8 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: TTC8
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    Gene Editing
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Cell Line
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    Search LifeMap BioReagents cell lines for TTC8

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

    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


    Animal Models:
         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


    Pathways & Interactions
    for TTC8 gene

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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for 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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042384cilium assembly TAS14520415
    GO:0045444fat cell differentiation IEA--
    GO:0048560establishment of anatomical structure orientation IMP14520415
    GO:0050893sensory processing TAS14520415


    TTC8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TTC8 gene

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

    Browse Tocris compounds for TTC8
    Search CenterWatch for drugs/clinical trials and news about TTC8 

    Transcripts
    for TTC8 gene

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

    miRNA
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    5 QIAGEN miScript miRNA 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 plasmid: TTC8 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): TTC8 (NM_198309)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTC8

    Additional cDNA 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):

    BF449004 BI257899 NM_144596 BF373301 AA430215 BX248071 BG325217 AA954356 
    NM_198309 AY373972 AY366523 BM854394 CD106779 BI766487 BQ951663 AI440520 
    BF373308 AV708384 AX748355 AL833901 AA452709 AI095258 BC026351 AA972972 

    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

    Expression
    for TTC8 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for TTC8 gene

    (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 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 1(13366658-13404137)
    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
    for TTC8 gene

    (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



    Genomic Variants
    for TTC8 gene

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

    10/822 NCBI SNPs in TTC8 are shown (see all 822)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1191032861,2
    		Cpathogenic82334742(+) GGAACG/AGTAAA 6 /T syn11Minor allele frequency- A:0.00NA 4332
    rs1378539221,2
    		C,F,untested82322972(+) GTTTTC/TAAAGG 3 -- int11Minor allele frequency- T:0.01EU 1289
    rs796661261,2
    		--69463986(+) CTGGAA/GTTGGG 3 -- us2k11Minor allele frequency- G:0.01NA 120
    rs776381291,2
    		C,F,--69464505(+) TCTAGT/CAGGGT 3 -- us2k11Minor allele frequency- C:0.03WA 118
    rs733273711,2
    		C,--69465160(+) CTGTCT/ACCAAT 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs763981761,2
    		C,F,--69466270(+) GCCTCC/TCCTCC 3 -- int11Minor allele frequency- T:0.12WA 118
    rs116219391,2
    		C,F,A,H,--69466597(+) TATTTA/TAAAAA 3 -- int111Minor allele frequency- T:0.04NA NS EA 684
    rs761895161,2
    		C,F,--69466829(+) GCTGCG/AGCAGT 3 -- int11Minor allele frequency- A:0.12WA 118
    rs780994641,2
    		C,F,--69468199(+) GGGTCA/GGATAT 3 -- int11Minor allele frequency- G:0.10WA 118
    rs773535961,2
    		F,--69468410(+) TATCCG/AAAAAG 3 -- int11Minor allele frequency- A:0.10WA 118

    HapMap Linkage Disequilibrium report for TTC8 (89290497 - 89344335 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TTC8: --
    Human Gene Mutation Database (HGMD): TTC8

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTC8
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC8

    Disorders / Diseases
    for TTC8 gene

    (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.)
    About This Section
    TTC8 for disorders           About GeneDecksing

    OMIM gene information: 608132   
    OMIM disorders: 209900  613464  
    UniProtKB/Swiss-Prot: TTC8_HUMAN, Q8TAM2
  • Defects in TTC8 are the cause of retinitis pigmentosa type 51 (RP51) [MIM:613464]. It is 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
  • Defects in TTC8 are the cause of Bardet-Biedl syndrome type 8 (BBS8) [MIM:209900]. Bardet-Biedl syndrome (BBS)
    • is a genetically heterogeneous, autosomal recessive disorder 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. A relatively high incidence of BBS is found in
    the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high
    rate of consaguinity in these populations and a founder effect

    14 diseases for TTC8:    About MalaCards
    bardet-biedl syndrome    bardet-biedl syndrome 8    polydactyly    retinitis pigmentosa 51
    retinitis    asphyxiating thoracic dystrophy    obesity    learning disability
    pigmentary retinopathy    retinitis pigmentosa    meckel syndrome    retinal disease
    blindness    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for TTC8:
    Polydactyly     Retinitis pigmentosa

    3 Novoseek 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
    Bardet-Biedl Syndrome

    Human Genome Epidemiology (HuGE) Navigator: TTC8 (3 documents)

    Export disorders for TTC8 gene to outside databases

    Publications
    for TTC8 gene

    (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 20):
    (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. 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)
    4. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L....Katsanis N. (2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. (PubMed id 16308660)2, 9 Stoetzel C.... Dollfus H. (2006)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1 Booij J.C....Florijn R.J. (2010)

    External Searches for TTC8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing TTC8 gene

    (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

    Other Databases showing TTC8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TTC8 gene

    (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

    Intellectual Property
    for TTC8 gene

    (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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