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

TTC9B Gene

protein-coding   GIFtS: 42
GCID: GC19M040721

Tetratricopeptide Repeat Domain 9B

  Search for TTC9B
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 9B1 2
TPR Repeat Protein 9B2 3
Tetratricopeptide Repeat Protein 9B2

External Ids:    HGNC: 263951   Entrez Gene: 1480142   Ensembl: ENSG000001745217   UniProtKB: Q8N6N23   

Export aliases for TTC9B gene to outside databases

Previous GC identifers: GC19M045417 GC19M037156


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

GeneCards Summary for TTC9B Gene: 
TTC9B (tetratricopeptide repeat domain 9B) is a protein-coding gene. GO annotations related to this gene include molecular_function. An important paralog of this gene is TTC9C.


(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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC9B gene promoter:
         NF-1   HOXA5   NRSF form 1   Pax-4a   NRSF form 2   YY1   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC9B promoter sequence
   Search SABiosciences Chromatin IP Primers for TTC9B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC9B


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

TTC9B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC9B gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M040721:  view genomic region     (about GC identifiers)

Start:
40,721,965 bp from pter      End:
40,724,306 bp from pter
Size:
2,342 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: TTC9B_HUMAN, Q8N6N2 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 9B  
Size: 239 amino acids; 25932 Da
Secondary accessions: A8K0I5 Q96NP9
Alternative splicing: 2 isoforms:  Q8N6N2-1   Q8N6N2-2   (No experimental confirmation available. May be due to an intron retention)

Explore the universe of human proteins at neXtProt for TTC9B: NX_Q8N6N2

Explore proteomics data for TTC9B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N6N2

  • TTC9B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TTC9B Protein Expression
    REFSEQ proteins: NP_689692.2  
    ENSEMBL proteins: 
     ENSP00000311760  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    TTC9B 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:
     IPR011990 TPR-like_helical
     IPR023566 PPIase_FKBP
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q8N6N2

    ProtoNet protein and cluster: Q8N6N2

    UniProtKB/Swiss-Prot: TTC9B_HUMAN, Q8N6N2
    Similarity: Belongs to the TTC9 family
    Similarity: Contains 2 TPR repeats


    TTC9B for domains           About GeneDecksing


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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    TTC9B for ontologies           About GeneDecksing


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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 TTC9B

    1 Interacting protein for TTC9B (Q8N6N23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRID2O434243I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    TTC9B 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 TTC9B

    Search CenterWatch for drugs/clinical trials and news about TTC9B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTC9B gene: 
    NM_152479.5  

    Unigene Cluster for TTC9B:

    Tetratricopeptide repeat domain 9B
    Hs.631572  [show with all ESTs]
    Unigene Representative Sequence: BX329490
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311308(uc002onc.3) ENST00000593586
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTC9B
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    Additional mRNA sequence: 

    AK289550.1 BC029539.1 

    2 DOTS entries:

    DT.75167501  DT.435357 

    24/50 AceView cDNA sequences (see all 50):

    AI936647 AW160639 AW294006 CR617938 CR610812 CR626768 BI488440 BX438002 
    AK054935 CR596147 BX394003 AW298160 BC029539 CA432622 BI819499 BG701459 
    AI598178 NM_152479 BM676619 BU634054 BX454905 AA338625 AL530363 BX281141 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TTC9B expression in normal human tissues (normalized intensities)      TTC9B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTGTTGG
    TTC9B Expression
    About this image


    TTC9B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier

    See TTC9B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC9B

    SOURCE GeneReport for Unigene cluster: Hs.631572
        SABiosciences Custom PCR Arrays for TTC9B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC9B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TTC9B gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc9b1 , 5 tetratricopeptide repeat domain 9B1, 5 89.17(n)1
    92.83(a)1
      7 (15.95 cM)5
    730321  NM_028417.11  NP_082693.11 
     276539155 
    lizard
    (Anolis carolinensis)
    Reptilia TTC9B6
    Uncharacterized protein
    69(a)
    1 ↔ 1
    LGf(2366962-2368024)
    zebrafish
    (Danio rerio)
    Actinopterygii ttc9b1 tetratricopeptide repeat domain 9B 62.67(n)
    63(a)
      559732  NM_001044905.2  NP_001038370.1 


    ENSEMBL Gene Tree for TTC9B (if available)
    TreeFam Gene Tree for TTC9B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC9B gene
    TTC9C2  TTC92  
    2 SIMAP similar genes for TTC9B using alignment to 1 protein entry:     TTC9B_HUMAN:
    TTC9C    TTC9

    TTC9B 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

    10/76 SNPs in TTC9B are shown (see all 76)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2022468521,2
    --40722109(+) CCACTA/GTCTTC 2 D syn10--------
    rs115534641,2,4
    C,H--40722122(+) GCTGGA/GGGCTG 2 P L mis1 ese36Minor allele frequency- G:0.00NS EA NA 410
    rs1417682071,2
    --40722377(+) TGTGCA/GCCTGT 1 -- int10--------
    rs1470548561,2
    --40722385(+) TGTATA/TTGCGG 1 -- int10--------
    rs1452176471,2
    C--40722626(+) GCACG-/CACACAC 1 -- int10--------
    rs81083511,2
    C,H--40722659(+) CATCGC/TCCACC 1 -- int113Minor allele frequency- T:0.01NA WA CSA EA 378
    rs1929626211,2
    --40722837(+) ATGACA/GGTAGA 1 -- int10--------
    rs557108491,2
    C,F--40722927(+) ATGGAC/TGAGTG 1 -- int16Minor allele frequency- T:0.49NA WA EA 248
    rs747243111,2
    C,F--40723001(+) CTGCTA/GTTCTG 1 -- int12Minor allele frequency- G:0.05CSA WA 120
    rs2009560541,2
    C--40723048(+) CTTTCC/GCCGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for TTC9B (40721965 - 40724306 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TTC9B:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv911699CNV Loss21882294
    dgv3865n71CNV Loss21882294
    dgv3866n71CNV Loss21882294
    nsv9728CNV Loss18304495
    dgv1083e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 TTC9B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TTC9B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 148014 HGNC: 26395 AceView: MGC33962 Ensembl:ENSG00000174521 euGenes: HUgn148014
    ECgene: TTC9B H-InvDB: TTC9B

    (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 TTC9B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTC9B gene:
    Search GeneIP for patents involving TTC9B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

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

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    (GIFtS: 73)
    transforming growth factor, beta 1
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