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TBCD Gene

protein-coding   GIFtS: 64
GCID: GC17P080709

Tubulin Folding Cofactor D

(Previous name: tubulin-specific chaperone d)
  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)
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Aliases
Tubulin Folding Cofactor D1 2     tfcD2 3
Tubulin-Specific Chaperone D1 2     KIAA09883
Beta-Tubulin Cofactor D2 3     SSD13
Tubulin-Folding Cofactor D2 3     TFCD3
SSD-12 3     

External Ids:    HGNC: 115811   Entrez Gene: 69042   Ensembl: ENSG000001415567   OMIM: 6046495   UniProtKB: Q9BTW93   

Export aliases for TBCD gene to outside databases

Previous GC identifers: GC17P079838 GC17P083992 GC17P081239 GC17P081388 GC17P078303 GC17P076109


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TBCD Gene:
Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded
beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and
stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor
D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are
committed to the native state. (provided by RefSeq, Jul 2008)

GeneCards Summary for TBCD Gene:
TBCD (tubulin folding cofactor D) is a protein-coding gene. Diseases associated with TBCD include corneal granular dystrophy, and lattice corneal dystrophy. GO annotations related to this gene include GTPase activator activity and beta-tubulin binding.

UniProtKB/Swiss-Prot: TBCD_HUMAN, Q9BTW9
Function: Tubulin-folding protein; involved in the first step of the tubulin folding pathway. Modulates
microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Acts as a GTPase-activating protein (GAP) for
ARL2. Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Induces microtubule
disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells.
Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions
disassembly at the lateral cell membrane

Gene Wiki entry for TBCD Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010663.16  NC_018928.2  NT_187612.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBCD gene promoter:
         Tal-1   MyoD   AP-4   MIF-1   E47   YY1   CREB   AREB6   deltaCREB   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TBCD promoter sequence
   Search Chromatin IP Primers for TBCD

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


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P080709:  view genomic region     (about GC identifiers)

Start:
80,709,940 bp from pter      End:
80,901,062 bp from pter
Size:
191,123 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TBCD_HUMAN, Q9BTW9 (See protein sequence)
Recommended Name: Tubulin-specific chaperone D  
Size: 1192 amino acids; 132600 Da
Subunit: Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD. Interacts with PPP2CB.
Interacts with ARL2 (By similarity). Supercomplex made of cofactors A to E. Cofactors A and D function by
capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin
complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the
native state. Interacts with ARL2; interaction is enhanced with the GDP-bound form of ARL2. Does not interact
with ARL3, ARL4A and ARL4D. Interacts with beta tubulin
Sequence caution: Sequence=AAH39654.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA76832.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O95458 Q7L8K1 Q8IXP6 Q8NAX0 Q8WYH4 Q96E74 Q9UF82 Q9UG46 Q9Y2J3
Alternative splicing: 5 isoforms:  Q9BTW9-1   Q9BTW9-2   Q9BTW9-3   Q9BTW9-4   Q9BTW9-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBCD: NX_Q9BTW9

Explore proteomics data for TBCD at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys202, Lys224, Lys370, Lys453, Lys634, Lys691, Lys788, Lys820, Lys873, Lys913,
                                 Lys947
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_005984.3  
    ENSEMBL proteins: 
     ENSP00000347719   ENSP00000440671   ENSP00000458535   ENSP00000459063   ENSP00000460450  
     ENSP00000458365   ENSP00000460949   ENSP00000461167   ENSP00000461680   ENSP00000458556  
     ENSP00000458599   ENSP00000458512   ENSP00000458916   ENSP00000380608  
    Reactome Protein details: Q9BTW9

    TBCD Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TBCD

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    TBCD Assay Products:

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    Cloud-Clone Corp. CLIAs for TBCD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR022577 Tubulin_specific_chaperoneD_C
     IPR011989 ARM-like
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q9BTW9

    ProtoNet protein and cluster: Q9BTW9

    1 Blocks protein domain: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: TBCD_HUMAN, Q9BTW9
    Similarity: Belongs to the TBCD family
    Similarity: Contains 3 HEAT repeats


    TBCD 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBCD_HUMAN, Q9BTW9
    Function: Tubulin-folding protein; involved in the first step of the tubulin folding pathway. Modulates
    microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Acts as a GTPase-activating protein (GAP) for
    ARL2. Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Induces microtubule
    disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells.
    Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions
    disassembly at the lateral cell membrane
    Induction: Down-regulated by shear stress

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IMP10831612
    GO:0005488binding ----
    GO:0005515protein binding IPI10831612
    GO:0048487beta-tubulin binding IDA10831612
    GO:0051087chaperone binding TAS8706133
         
    TBCD for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TBCD:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target TBCD:
    hsa-mir-1 (MIRT024063)

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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBCD_HUMAN, Q9BTW9: Cell junction, tight junction (By similarity). Lateral cell membrane (By similarity).
    Cytoplasm (By similarity). Cell junction, adherens junction (By similarity). Note=Localized in cell-cell contacts
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    plasma membrane4
    cytosol2
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule TAS8706133
    GO:0005912adherens junction ISS--
    GO:0005923tight junction ISS--
    GO:0016328lateral plasma membrane ISS--

    TBCD for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TBCD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein folding
    Protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for TBCD
        Post-chaperonin tubulin folding pathway



    TBCD for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBCD
    Interactions:

        Search GeneGlobe Interaction Network for TBCD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TBCD (Q9BTW92, 3 ENSP000003477194) via UniProtKB, MINT, STRING, and/or I2D (see all 134)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL2P364042, 3, ENSP000002467474MINT-6602322 I2D: score=4 STRING: ENSP00000246747
    DEXIO954242, 3, ENSP000003305094MINT-63309 I2D: score=4 STRING: ENSP00000330509
    XRCC6P129562, 3MINT-65799 I2D: score=5 
    SMAD9O151982, 3MINT-62136 I2D: score=3 
    IKBKGQ9Y6K92, 3MINT-48180 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS8706133
    GO:0007023post-chaperonin tubulin folding pathway IDA11847227
    GO:0010812negative regulation of cell-substrate adhesion ISS--
    GO:0031115negative regulation of microtubule polymerization IDA10831612
    GO:0034333adherens junction assembly ISS--

    TBCD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBCD

    1 HMDB Compound for TBCD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBCD gene (2 alternative transcripts): 
    NM_005993.4  NM_001033052.1  

    Unigene Cluster for TBCD:

    Tubulin folding cofactor D
    Hs.464391  [show with all ESTs]
    Unigene Representative Sequence: NM_005993
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000355528(uc002kfx.1 uc002kfz.3) ENST00000539345(uc002kfy.1)
    ENST00000576160 ENST00000571712 ENST00000576996 ENST00000574801 ENST00000571316
    ENST00000576760 ENST00000572984 ENST00000574975 ENST00000572953 ENST00000571796(uc002kgb.1)
    ENST00000574422 ENST00000571618 ENST00000574818 ENST00000574886 ENST00000570679
    ENST00000577051
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat TBCD

    Additional mRNA sequence: 

    AB023205.1 AF052173.1 AF193042.1 AJ006417.1 AK057975.1 AK091959.1 AK129619.1 AK293471.1 
    AL096745.1 AL133562.1 BC003094.1 BC012824.2 BC024167.1 BC039654.1 BC150142.1 

    Selected DOTS entries (see all 32):

    DT.454741  DT.100673985  DT.118523  DT.95168149  DT.100814770  DT.100814775  DT.100814771  DT.91982660 
    DT.97790524  DT.100704661  DT.92447496  DT.92447500  DT.95168151  DT.102843133  DT.40115473  DT.95317658 
    DT.100030683  DT.100814773  DT.100814776  DT.102843138  DT.120973984  DT.120974001  DT.120974125  DT.120974127 

    Selected AceView cDNA sequences (see all 434):

    BE279039 AF052173 BX417505 BE906420 BQ218297 BQ940669 AA311444 BE273578 
    AL133562 AW409860 BI834229 BU164758 AI948529 NM_005993 BM703854 BU552893 
    BM678619 AW769005 F09256 BF345976 BM783758 AI659063 BM783727 BM728485 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TBCD (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                              -                                             
    SP2:                                                                                                              -                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35a · 35b · 35c ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^
    SP1:                    -     -           -                                   -                                         -                       -     -         
    SP2:                    -     -           -                                   -                                         -                       -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:  -     -     -     -     -     -     -     -     -                       -                                                                                 

    ExUns: 41 ^ 42a · 42b · 42c ^ 43a · 43b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for TBCD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    TBCD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBCD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464391

    UniProtKB/Swiss-Prot: TBCD_HUMAN, Q9BTW9
    Tissue specificity: Ubiquitously expressed

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBCD gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbcd1 , 5 tubulin-specific chaperone d1, 5 80.66(n)1
    82.34(a)1
      11 (85.41 cM)5
    1089031  NM_029878.31  NP_084154.11 
     1214519495 
    chicken
    (Gallus gallus)
    Aves TBCD1 tubulin folding cofactor D 69.07(n)
    70.81(a)
      417334  NM_001012801.1  NP_001012819.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBCD6
    tubulin folding cofactor D
    70(a)
    1 ↔ 1
    2(108238928-108403229)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tbcd1 tubulin folding cofactor D 66.9(n)
    68.68(a)
      779832  NM_001078911.1  NP_001072379.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbcd1 tubulin-specific chaperone d 64.05(n)
    65.13(a)
      553265  XM_001922549.2  XP_001922584.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:LD223203
    CG72611
    CG72611 39(a)3
    51.3(n)1
    41.7(a)1
      22D13
    333891  NM_134804.41  NP_608648.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F16D3.43   -- 28(a)   I(8372284-8377977)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TTN11 TTN1 45.94(n)
    38.89(a)
      825245  NM_115938.5  NP_191633.3 
    rice
    (Oryza sativa)
    Liliopsida Os.172092 Oryza sativa (japonica cultivar-group) putative tubulin-folding more 72.23(n)    NM_197281.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TBCD (see all 5434)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1870766841,2
    --76107622(+) ATCTCC/TACTAA 1 -- us2k10--------
    rs1413051071,2
    --76107644(+) TTAGCC/TGGGTG 1 -- us2k10--------
    rs1916861981,2
    C--76107647(+) GCCGGG/TTGTAG 1 -- us2k10--------
    rs24512211,2
    C,A--76107660(-) CAGGCG/ACCCGC 1 -- us2k12Minor allele frequency- A:0.00WA CSA 3
    rs47898401,2
    C,A--76107681(+) TACTCG/AGTAGG 1 -- us2k13Minor allele frequency- A:0.00NA 6
    rs1829209031,2
    --76107692(+) CTGAGA/GCAGGA 1 -- us2k10--------
    rs24512201,2
    C,A,H--76107750(-) AGTGCG/AGTGGC 1 -- us2k14Minor allele frequency- A:0.17NA WA CSA 6
    rs1860965181,2
    --80709614(+) CCCCCA/GGCCCC 1 -- us2k10--------
    rs1128086691,2
    C,F--80713355(+) CAGGGC/TCTGCT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1121285291,2
    F--80716630(+) TCCAGG/AGTTCA 1 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for TBCD (80709940 - 80901062 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TBCD (see all 71):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716553CNV Deletion23290073
    esv2716563CNV Deletion23290073
    esv2716545CNV Deletion23290073
    esv2716543CNV Deletion23290073
    esv3529CNV Deletion18987735
    esv1732251CNV Deletion17803354
    esv2716559CNV Deletion23290073
    esv2716549CNV Deletion23290073
    esv2716538CNV Deletion23290073
    dgv479e201CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBCD
    DNA2.0 Custom Variant and Variant Library Synthesis for TBCD

    (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.)
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    OMIM gene information: 604649    OMIM disorders: --

    11 diseases for TBCD:    About MalaCards
    corneal granular dystrophy    lattice corneal dystrophy    retinitis pigmentosa 2    corneal dystrophy
    gilles de la tourette syndrome    retinitis pigmentosa    retinitis    choroiditis
    kidney disease    hypertension    malaria

    2 diseases from the University of Copenhagen DISEASES database for TBCD:
    Lattice corneal dystrophy     Corneal granular dystrophy

    TBCD for disorders           About GeneDecksing

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

    Export disorders for TBCD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TBCD gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with TBCD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Shear stress-dependent regulation of the human beta-tubulin folding cofactor D gene. (PubMed id 11110777)1, 2, 9 Schubert A....Morawietz H. (Circ. Res. 2000)
    2. ADP ribosylation factor-like protein 2 (Arl2) regulates the interaction of tubulin-folding cofactor D with native tubulin. (PubMed id 10831612)1, 2, 9 Bhamidipati A.... Cowan N.J. (J. Cell Biol. 2000)
    3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    5. Effect of TBCD and its regulatory interactor Arl2 on tubulin and microtubule integrity. (PubMed id 20740604)1, 2 Tian G.... Cowan N.J. (Cytoskeleton 2010)
    6. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. (PubMed id 11847227)1, 2 Bartolini F....Cowan N.J. (J. Biol. Chem. 2002)
    10. Tubulin folding cofactor D is a microtubule destabilizing protein. (PubMed id 10722852)1, 2 Martin L.... Zabala J.C. (FEBS Lett. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6904 HGNC: 11581 AceView: TBCD Ensembl:ENSG00000141556 euGenes: HUgn6904
    ECgene: TBCD H-InvDB: TBCD

    (According to HUGE)
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    HUGE: KIAA0988

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBCD Pharmacogenomics, SNPs, Pathways

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

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



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