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

TRIOBP Gene

protein-coding   GIFtS: 57
GCID: GC22P038092

TRIO And F-Actin Binding Protein


(Previous symbol: DFNB28)
  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
TRIO And F-Actin Binding Protein1 2     dJ37E16.42
DFNB281 2     Tara-Like Protein2
Protein Tara2 3     TRIO And F-Actin-Binding Protein2
Trio-Associated Repeat On Actin2 3     EC 3.6.3.148
TARA2 3     EC 6.1.1.48
KIAA16623 5     EC 6.3.5.58

External Ids:    HGNC: 170091   Entrez Gene: 110782   Ensembl: ENSG000001001067   OMIM: 6097615   UniProtKB: Q9H2D63   

Export aliases for TRIOBP gene to outside databases

Previous GC identifers: GC22P036447 GC22P021064


(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 TRIOBP Gene:
This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The
protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton
organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin
structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness.
Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this
gene, however some transcripts may be subject to nonsense-mediated decay (NMD). (provided by RefSeq, Nov 2008)

GeneCards Summary for TRIOBP Gene: 
TRIOBP (TRIO and F-actin binding protein) is a protein-coding gene. Diseases associated with TRIOBP include deafness, autosomal recessive 28, and dfnb28 nonsyndromic hearing loss and deafness. GO annotations related to this gene include phospholipid binding and actin filament binding. An important paralog of this gene is MPRIP.

UniProtKB/Swiss-Prot: TARA_HUMAN, Q9H2D6
Function: May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding
and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of
F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin
formation and turnover

Gene Wiki entry for TRIOBP 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_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRIOBP gene promoter:
         c-Fos   AP-1   Sp1   Pax-2   Pax-2a   Nkx2-5   MIF-1   GATA-1   HEN1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRIOBP promoter sequence
   Search SABiosciences Chromatin IP Primers for TRIOBP

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


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P038092:  view genomic region     (about GC identifiers)

Start:
38,092,995 bp from pter      End:
38,172,563 bp from pter
Size:
79,569 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: TARA_HUMAN, Q9H2D6 (See protein sequence)
Recommended Name: TRIO and F-actin-binding protein  
Size: 2365 amino acids; 261376 Da
Subunit: Binds to TRIO and F-actin. May also interact with myosin II. Interacts with HECTD3
Subcellular location: Nucleus. Cytoplasm, cytoskeleton. Note=Localized to F-actin in a periodic pattern
Subcellular location: Isoform 1: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
Midbody. Note=Centrosomal localization occurs upon phosphorylation by PLK1 at Thr-457 and lasts from prophase to
anaphase. At telophase, relocalizes to midbody
Miscellaneous: Has been identified in PubMed:9853615 by a selection system for genes encoding nuclear-targeted
protein
Sequence caution: Sequence=BAA34800.1; Type=Frameshift; Positions=478;
Secondary accessions: B1AHD4 B1AHD7 F2Z2W0 O94797 Q2PZW8 Q2Q3Z9 Q2Q400 Q5R3M6 Q96DW1 Q9BT77
Q9BTL7 Q9BY98 Q9Y3L4
Alternative splicing: 6 isoforms:  Q9H2D6-1   Q9H2D6-2   Q9H2D6-3   Q9H2D6-4   Q9H2D6-5   Q9H2D6-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TRIOBP: NX_Q9H2D6

Explore proteomics data for TRIOBP at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by HECTD3, leading to its degradation by the proteasome
  • UniProtKB: Isoform 1: Phosphorylation at Thr-457 by PLK1 ensures mitotic progression and is essential for accurate chromosome
    segregation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H2D6

  • 3 DME Specific Peptides for TRIOBP (Q9H2D6)
     IEKKWQE  NPRASRT  RVPLTAL 

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

    TRIOBP Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001034230.1  NP_008963.3  NP_619538.2  

    ENSEMBL proteins: 
     ENSP00000384312   ENSP00000340312   ENSP00000383913   ENSP00000386026   ENSP00000399006  
     ENSP00000400680   ENSP00000396946   ENSP00000407542   ENSP00000387881  

    Human Recombinant Protein Products for TRIOBP: 
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    Cloud-Clone Corp. Proteins for TRIOBP 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005815microtubule organizing center IEA--
    GO:0015629actin cytoskeleton NAS11148140
    GO:0030496midbody IEA--

    TRIOBP 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: 
    PLEKH: Pleckstrin homology (PH) domain containing

    2 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9H2D6

    ProtoNet protein and cluster: Q9H2D6

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: TARA_HUMAN, Q9H2D6
    Domain: Contains at least 2 actin-binding sites per coiled-coil dimer
    Similarity: Contains 1 PH domain


    TRIOBP 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: TARA_HUMAN, Q9H2D6
    Function: May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding
    and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of
    F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin
    formation and turnover

         Enzyme Numbers (IUBMB): EC 6.1.1.42 EC 3.6.3.142 EC 6.3.5.52

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0017049GTP-Rho binding NAS11148140
    GO:0031625ubiquitin protein ligase binding IPI18194665
    GO:0045159myosin II binding NAS11148140
         
    TRIOBP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TRIOBP:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Triobp):
     hearing/vestibular/ear  mortality/aging  nervous system 

    TRIOBP for phenotypes           About GeneDecksing

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRIOBP 
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    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate TRIOBP (see all 57):
    hsa-miR-142-5p hsa-miR-3130-5p hsa-miR-100* hsa-miR-642a hsa-let-7d hsa-miR-106a hsa-miR-374a hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmidTRIOBP 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRIOBP


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRIOBP

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

    5/11 Interacting proteins for TRIOBP (Q9H2D62, 3 ENSP000003843124) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VIMP086702, 3, ENSP000002242374MINT-65490 I2D: score=5 STRING: ENSP00000224237
    HECTD3Q5T4473, ENSP000003612454I2D: score=1 STRING: ENSP00000361245
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    APCP250543I2D: score=2 
    PLK1ENSP000003000934STRING: ENSP00000300093
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007067mitosis IEA--
    GO:0030047actin modification NAS11148140
    GO:0051016barbed-end actin filament capping NAS11148140
    GO:0051301cell division IEA--
    GO:1900026positive regulation of substrate adhesion-dependent cell spreading IDA11148140

    TRIOBP 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 TRIOBP (TARA)

    Search CenterWatch for drugs/clinical trials and news about TRIOBP / TARA

    (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 TRIOBP gene (3 alternative transcripts): 
    NM_001039141.2  NM_007032.5  NM_138632.2  

    Unigene Cluster for TRIOBP:

    TRIO and F-actin binding protein
    Hs.533030  [show with all ESTs]
    Unigene Representative Sequence: NM_001039141
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406386(uc003atr.3 uc003atu.3 uc003atw.3 uc010gxh.3)
    ENST00000492485(uc003ats.1) ENST00000344404 ENST00000407319(uc003atv.3)
    ENST00000403663(uc003atx.1) ENST00000428075 ENST00000413051 ENST00000418339
    ENST00000452519 ENST00000417857 ENST00000331103
    miRNA
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    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate TRIOBP (see all 57):
    hsa-miR-142-5p hsa-miR-3130-5p hsa-miR-100* hsa-miR-642a hsa-let-7d hsa-miR-106a hsa-miR-374a hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmidTRIOBP 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB015343.1 AF281030.1 AK096634.2 BC003618.2 BC004303.1 BC013278.2 BC022200.1 DQ228005.1 

    24/27 DOTS entries (see all 27):

    DT.99952146  DT.92405379  DT.87016385  DT.91770761  DT.100039197  DT.97854934  DT.40232095  DT.120660805 
    DT.95223749  DT.120660817  DT.91770760  DT.100825516  DT.95223754  DT.100825523  DT.95123996  DT.95135832 
    DT.120660912  DT.92024993  DT.97805516  DT.99952613  DT.100039198  DT.100806261  DT.100825522  DT.120660827 

    24/490 AceView cDNA sequences (see all 490):

    BQ670202 BU501171 BQ064749 AI632167 CA394915 AI871847 BQ674241 BQ957110 
    BM721435 BQ706660 BM682452 BQ669062 BE744370 CD244932 AI656869 BU172464 
    CR610295 BE502172 BC022200 BM915263 CN485023 BU163840 BU838641 BU150317 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for TRIOBP (see all 13)    About this scheme

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

    ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d ^ 22a · 22b
    SP1:                    -                       -     -               
    SP2:                    -                       -     -               
    SP3:                                            -     -               
    SP4:                    -                                             
    SP5:                                                                  


    ECgene alternative splicing isoforms for TRIOBP

    (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

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


    TRIOBP 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
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Oral Cavity (Gastrointestinal Tract)
             salivary gland   

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

    SOURCE GeneReport for Unigene cluster: Hs.533030

    UniProtKB/Swiss-Prot: TARA_HUMAN, Q9H2D6
    Tissue specificity: Widely expressed. Highly expressed in heart and placenta. Isoform 3 is expressed in fetal
    brain, retina and cochlea but is not detectable in the other tissues

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

    (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 TRIOBP gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Triobp1 , 5 TRIO and F-actin binding protein1, 5 75.79(n)1
    71.41(a)1
      15 (37.70 cM)5
    1102531  NM_001039156.11  NP_001034245.11 
     789477245 
    chicken
    (Gallus gallus)
    Aves LOC1008593971 TRIO and F-actin-binding protein-like 74.07(n)
    72.22(a)
      100859397  XM_003643877.1  XP_003643925.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRIOBP6
    TRIO and F-actin binding protein
    66(a)
    1 ↔ 1
    5(23890902-23979126)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.124802 Xenopus laevis transcribed sequence with weak similarity more 73.57(n)    BU908154.1 
    zebrafish
    (Danio rerio)
    Actinopterygii triobp6
    TRIOBP (2 of 2)6
    TRIO and F-actin binding protein
    39(a)
    27(a)
    many → 1
    many → 1
    3(1940165-1953609)
    1(54603831-54630281)
    fruit fly
    (Drosophila melanogaster)
    Insecta osp6
    outspread
    11(a)
    1 → many
    2L(14599776-14689325)
    worm
    (Caenorhabditis elegans)
    Secernentea F10G8.86
    Protein F10G8.8, isoform b
    14(a)
    1 → many
    I(10050693-10062028)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRIOBP gene
    MPRIP2  
    3 SIMAP similar genes for TRIOBP using alignment to 8 protein entries:     TARA_HUMAN (see all proteins):
    DKFZp547M048    MPRIP    M-RIP

    TRIOBP 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

    10/2121 SNPs in TRIOBP are shown (see all 2121)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0257194
    Deafness, autosomal recessive, 28 (DFNB28)4--see VAR_0257192 G R mis40--------
    rs1182040291,2
    Cpathogenic122037898(+) CCACAC/TGAGAC 2 R * stg10--------
    rs799452621,2
    C,Funtested122037276(+) TGTGCC/ACAGCG 2 /A syn12Minor allele frequency- A:0.03WA EU 1279
    rs72895751,2
    C,A--21074604(+) aaaaaC/Aaaaaa 1 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs1139814571,2
    C,F--21075632(+) CGCCCG/AGCCTA 1 -- int13Minor allele frequency- A:0.25CSA WA NA 239
    rs3676870041,2
    C--21082973(+) TCATC-/ACACTGCACTC
    ACTGTTTCACTCAT
    CCCCC
    1 -- int10--------
    rs556510371,2
    C--21082974(+) TCATCC/ACCCCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs711950491,2
    C--21095689(+) AAAAA-/A/AA  
            
    GACAC
    1 -- int11NA 2
    rs1827617231,2
    C--21109237(+) CGCCGC/TCCCGC 3 -- us2k1 int10--------
    rs1139101331,2
    C,F--21109268(+) GTTGCG/CGCAGG 3 -- us2k1 int11Minor allele frequency- C:0.50NA 2

    HapMap Linkage Disequilibrium report for TRIOBP (38092995 - 38172563 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for TRIOBP (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724218CNV Deletion23290073
    esv2658988CNV Deletion23128226
    esv1471410CNV Deletion17803354
    esv2660524CNV Deletion23128226
    esv2724219CNV Deletion23290073
    nsv829203CNV Loss20364138
    nsv834191CNV Loss17160897
    nsv471197CNV Loss18288195
    dgv4966n71CNV Loss21882294
    nsv915035CNV Loss21882294


    Human Gene Mutation Database (HGMD): TRIOBP
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TRIOBP
    DNA2.0 Custom Variant and Variant Library Synthesis for TRIOBP

    (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
    OMIM gene information: 609761   
    OMIM disorders: 609823  
    UniProtKB/Swiss-Prot: TARA_HUMAN, Q9H2D6
  • Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 6 diseases for TRIOBP:    About MalaCards
    deafness, autosomal recessive 28    dfnb28 nonsyndromic hearing loss and deafness    autosomal recessive nonsyndromic deafness    nonsyndromic deafness
    nonsyndromic hearing loss and deafness, autosomal recessive    usher syndrome

    1 disease from the University of Copenhagen DISEASES database for TRIOBP:
    Nonsyndromic deafness

    TRIOBP for disorders           About GeneDecksing

    Genetic Association Database (GAD): TRIOBP
    Human Genome Epidemiology (HuGE) Navigator: TRIOBP (3 documents)

    Export disorders for TRIOBP 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 TRIOBP gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with TRIOBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. (PubMed id 16385457)1, 2, 3, 9 Riazuddin S....Friedman T.B. (2006)
    2. Mutations in a novel isoform of TRIOBP that encodes a filamentous- actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. (PubMed id 16385458)1, 2, 3 Shahin H.... Kanaan M. (2006)
    3. Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization. (PubMed id 11148140)1, 2, 3 Seipel K.... Streuli M. (2001)
    4. Phosphorylation of Tara by Plk1 is essential for faith ful chromosome segregation in mitosis. (PubMed id 22820163)1, 2 Zhu Y....Huang H. (2012)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. The E3 ubiquitin ligase HECTD3 regulates ubiquitination and degradation of Tara. (PubMed id 18194665)1, 2 Yu J....Huang H. (2008)
    7. 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)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    9. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2 Hirosawa M....Ohara O. (2001)
    10. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)

    (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: 11078 HGNC: 17009 AceView: HRIHFB2122 Ensembl:ENSG00000100106 euGenes: HUgn11078
    ECgene: TRIOBP H-InvDB: TRIOBP

    (According to HUGE)
    About This Section
    HUGE: KIAA1662

    (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 TRIOBP 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 TRIOBP gene:
    Search GeneIP for patents involving TRIOBP

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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