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TBCE Gene

protein-coding   GIFtS: 58
GCID: GC01P235530

Tubulin Folding Cofactor E

(Previous names: tubulin-specific chaperone e, Kenny-Caffey syndrome, hypoparathyroidism,...)
(Previous symbols: KCS, HRD)
  See TBCE-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 E1 2     KCS12 5
HRD1 2 5     Kenny-Caffey Syndrome1
KCS1 2 5     pac22
Hypoparathyroidism, Growth And Mental Retardation, And Dysmorphism1 2     Tubulin-Folding Cofactor E3
Tubulin-Specific Chaperone E1 2     

External Ids:    HGNC: 115821   Entrez Gene: 69052   Ensembl: ENSG000001169577   OMIM: 6049345   UniProtKB: Q158133   

Export aliases for TBCE gene to outside databases

Previous GC identifers: GC01P233663 GC01P230984 GC01P231827 GC01P232571 GC01P231856 GC01P205979


(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 TBCE Gene:
Cofactor E 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. Two transcript variants encoding the same protein have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for TBCE Gene:
TBCE (tubulin folding cofactor E) is a protein-coding gene. Diseases associated with TBCE include kenny-caffey syndrome type 1, and hypoparathyroidism-retardation-dysmorphism syndrome. GO annotations related to this gene include chaperone binding. An important paralog of this gene is TBCEL.

UniProtKB/Swiss-Prot: TBCE_HUMAN, Q15813
Function: Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be
implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer
dissociation

Gene Wiki entry for TBCE 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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Regulatory elements:
   Regulatory transcription factor binding sites in the TBCE gene promoter:
         USF1   SREBP-1c   USF2   USF-1:USF-2   SREBP-1b   N-Myc   SREBP-1a   USF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBCE promoter sequence
   Search Chromatin IP Primers for TBCE

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


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

Entrez Gene cytogenetic band: 1q42.3   Ensembl cytogenetic band:  1q42.3   HGNC cytogenetic band: 1q42.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P235530:  view genomic region     (about GC identifiers)

Start:
235,530,675 bp from pter      End:
235,612,283 bp from pter
Size:
81,609 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBCE_HUMAN, Q15813 (See protein sequence)
Recommended Name: Tubulin-specific chaperone E  
Size: 527 amino acids; 59346 Da
Subunit: 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. Cofactors B and E can form a
heterodimer which binds to alpha-tubulin and enhances their ability to dissociate tubulin heterodimers
Secondary accessions: A8K8C2 B7Z3P1
Alternative splicing: 2 isoforms:  Q15813-1   Q15813-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBCE: NX_Q15813

Explore proteomics data for TBCE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys192
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001072983.1  NP_001274730.1  NP_001274731.1  NP_003184.1  

    ENSEMBL proteins: 
     ENSP00000355560   ENSP00000384571   ENSP00000439170  
    Reactome Protein details: Q15813

    TBCE Human Recombinant Protein Products:

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    Novus Biologicals TBCE Protein
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    Cloud-Clone Corp. Proteins for TBCE

     
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    antibodies-online proteins for TBCE (2 products) 

     
    antibodies-online peptides for TBCE

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    antibodies-online kits for TBCE (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027933 Ubiquitin-like_dom
     IPR000938 CAP-Gly_domain

    Graphical View of Domain Structure for InterPro Entry Q15813

    ProtoNet protein and cluster: Q15813

    1 Blocks protein domain: IPB000938 CAP-Gly domain

    UniProtKB/Swiss-Prot: TBCE_HUMAN, Q15813
    Similarity: Belongs to the TBCE family
    Similarity: Contains 1 CAP-Gly domain
    Similarity: Contains 7 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain


    Find genes that share domains with TBCE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBCE_HUMAN, Q15813
    Function: Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be
    implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer
    dissociation

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome ----
    GO:0051087chaperone binding TAS8706133
         
    Find genes that share ontologies with TBCE           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tbce):
     behavior/neurological  mortality/aging  muscle  nervous system  respiratory system 

    Find genes that share phenotypes with TBCE           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TBCE

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBCE:
    hsa-mir-423-3p (MIRT042552)

    Block miRNA regulation of human, mouse, rat TBCE using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate TBCE:
    hsa-miR-137 hsa-miR-522 hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidTBCE 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): TBCE (NM_003193)
    Sino Biological Human cDNA Clone for TBCE
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBCE

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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
    TBCE_HUMAN, Q15813: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol2
    endoplasmic reticulum2
    plasma membrane2
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0005840ribosome ----
    GO:0005874microtubule TAS8706133

    Find genes that share ontologies with TBCE           About GenesLikeMe


    (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 TBCE 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


    Find genes that share SuperPaths with TBCE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for TBCE
        Post-chaperonin tubulin folding pathway


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

        Search GeneGlobe Interaction Network for TBCE

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

    Selected Interacting proteins for TBCE (Q158133 ENSP000003555604) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000258947Q135093, ENSP000003202954I2D: score=1 STRING: ENSP00000320295
    TUBA4AP683663, ENSP000002484374I2D: score=5 STRING: ENSP00000248437
    TBCDQ9BTW93, ENSP000003477194I2D: score=2 STRING: ENSP00000347719
    AURKCQ9UQB93, ENSP000003028984I2D: score=1 STRING: ENSP00000302898
    CUL1Q136163, ENSP000003268044I2D: score=1 STRING: ENSP00000326804
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0006412translation ----
    GO:0006457protein folding TAS8706133
    GO:0007023post-chaperonin tubulin folding pathway IDA11847227
    GO:0007409axonogenesis ----

    Find genes that share ontologies with TBCE           About GenesLikeMe



    (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 TBCE



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TBCE gene (4 alternative transcripts): 
    NM_001079515.2  NM_001287801.1  NM_001287802.1  NM_003193.4  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366601(uc001hwz.1) ENST00000482230 ENST00000472011(uc001hxb.1)
    ENST00000461651 ENST00000465463 ENST00000406207(uc001hxa.1) ENST00000543662(uc010pxq.1 uc010pxr.1)

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate TBCE:
    hsa-miR-137 hsa-miR-522 hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidTBCE 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): TBCE (NM_003193)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBCE
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TBCE
      QuantiFast Probe-based Assays in human, mouse, rat TBCE

    Selected AceView cDNA sequences (see all 149):

    AU151375 BE891661 AL533627 BM463617 CR612606 CR599260 BU192730 CA432027 
    AA766244 BE783109 BI760545 CF527732 AA349080 BC008654 CB123405 AU132583 
    BX452392 BE930422 AI362877 BM720018 BM453255 BF064027 BQ008319 CB110473 

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


    TBCE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    TBCE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBCE Protein Expression
        Custom PCR Arrays for TBCE
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBCE

    (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 TBCE gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbce1 , 5 tubulin-specific chaperone E1, 5 79.8(n)1
    74.95(a)1
      13 (5.29 cM)5
    704301  NM_178337.21  NP_848027.11 
     139979495 
    chicken
    (Gallus gallus)
    Aves TBCE1 tubulin folding cofactor E 65.59(n)
    62.43(a)
      426319  XM_423980.4  XP_423980.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBCE6
    tubulin folding cofactor E
    55(a)
    1 ↔ 1
    1(219465333-219491754)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.183062 Xenopus laevis transcribed sequence with weak similarity more 75.52(n)    BJ630902.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbce1 tubulin folding cofactor E 57.8(n)
    53.01(a)
      664760  NM_001039989.2  NP_001035078.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG78613
    tbce1
    tubulin-specific chaperone3
    tubulin-specific chaperone E1
    30(a)3
    43.01(n)1
    33.6(a)1
      42A63
    355321  NM_136353.21  NP_610197.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K07H8.11 , 3 K07H8.11 29(a)3
    42.92(n)1
    34.58(a)1
      IV(8294876-8297381)3
    1776241  NM_068994.41  NP_501395.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PAC2(YER007W)4 Microtubule effector required for tubulin heterodimer more   --   5(164527-166083) 856724  NP_010922.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PFI1 PFI 42.21(n)
    30.52(a)
      843485  NM_105813.3  NP_565017.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01053001 Os05g0105300 44.65(n)
    36.48(a)
      4337557  NM_001060945.1  NP_001054410.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBCE gene
    TBCEL2  

    Find genes that share paralogs with TBCE           About GenesLikeMe



    (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 TBCE (see all 2013)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs774140791,2
    C--235531757(+) GCTTC-/AAAACG 2 -- int10--------
    rs1137496431,2
    F--235532751(+) CGGGAG/AACAGA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs559283321,2
    C--235532975(+) AAAAA-/A/AA  
            
    CACAA
    2 -- int11CSA 2
    rs114492671,2
    C--235540971(+) TTTTTT/-GAGAT 2 -- int1 trp33Minor allele frequency- -:0.17NA CSA 6
    rs354161411,2
    C--235541711(+) TTGTA-/TTTTTT 2 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs115838091,2
    C,F,H--235545048(+) ttgtaA/Gttggc 2 -- int16Minor allele frequency- G:0.24NA WA 248
    rs115847121,2
    C,F,A,H--235550653(+) cagacG/Agggac 2 -- int11Minor allele frequency- A:0.50NA 2
    rs113035481,2
    C--235556924(+) AAATG-/TTTTTT 2 -- int1 trp30--------
    rs711744241,2
    C--235558864(+) TTTTTT/-AAGGT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1121263581,2
    C--235559501(+) TCCGAG/ATAGCT 2 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for TBCE (235530675 - 235612283 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TBCE (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673804CNV Deletion23128226
    esv2667227CNV Deletion23128226
    esv2523478CNV Deletion19546169
    esv2660698CNV Deletion23128226
    esv1003266CNV Deletion20482838
    nsv4954CNV Insertion18451855
    nsv509668CNV Insertion20534489
    nsv471774CNV Loss16327809
    nsv873321CNV Gain21882294
    dgv30n21CNV Gain19592680

    Human Gene Mutation Database (HGMD): TBCE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBCE
    DNA2.0 Custom Variant and Variant Library Synthesis for TBCE

    (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.)
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    OMIM gene information: 604934   
    OMIM disorders: 244460  241410  
    UniProtKB/Swiss-Prot: TBCE_HUMAN, Q15813
  • Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]: Autosomal recessive disorder
    reported almost exclusively in Middle Eastern populations. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Kenny-Caffey syndrome 1 (KCS1) [MIM:244460]: An autosomal recessive form of Kenny-Caffey syndrome, a
    disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary
    hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the
    tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal
    bossing with a triangular face. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 6 diseases for TBCE:    
    About MalaCards
    kenny-caffey syndrome type 1    hypoparathyroidism-retardation-dysmorphism syndrome    sakati syndrome    caffey disease
    retinitis pigmentosa 2    hypoparathyroidism

    2 diseases from the University of Copenhagen DISEASES database for TBCE:
    Caffey disease     Hypoparathyroidism

    Find genes that share disorders with TBCE           About GenesLikeMe

    2 Novoseek inferred disease relationships for TBCE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sanjad-sakati syndrome 98.8 4 17184771 (1), 19491227 (1), 16624573 (1), 16470743 (1)
    hypoparathyroidism 80.2 1 17664687 (1)

    Genetic Association Database (GAD): TBCE
    Human Genome Epidemiology (HuGE) Navigator: TBCE (2 documents)

    Export disorders for TBCE 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 TBCE gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with TBCE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. (PubMed id 12389028)1, 2, 3, 9 Parvari R.... Gelb B.D. (Nat. Genet. 2002)
    2. Pathway leading to correctly folded beta-tubulin. (PubMed id 8706133)1, 2, 3 Tian G....Cowan N.J. (Cell 1996)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    5. Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. (PubMed id 19557161)1, 4 Lindgren C.M....McCarthy M.I. (PLoS Genet. 2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    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. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. (PubMed id 9806825)1, 3 Diaz G.A....Gelb B.D. (Genomics 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6905 HGNC: 11582 AceView: TBCE Ensembl:ENSG00000116957 euGenes: HUgn6905
    ECgene: TBCE H-InvDB: TBCE

    (According to HUGE)
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      --

    (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 TBCE Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for TBCE gene:
    Search GeneIP for patents involving TBCE

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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