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

TBCE Gene

protein-coding   GIFtS: 57
GCID: GC01P235530

tubulin folding cofactor E

(Previous names: tubulin-specific chaperone e, Kenny-Caffey syndrome )
(Previous symbol: KCS)
 Explore 22 diseases affiliated with
TBCE via our new
 Human Malady Compendium 
Biological research products
for TBCE
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tubulin Folding Cofactor E1 2     Kenny-Caffey Syndrome1 2
HRD1 2 5     Pac21
KCS1 2 5     Tubulin-Specific Chaperone E1 2
KCS11 2 5     Tubulin-Folding Cofactor E2 3

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

Entrez Gene summary for TBCE:
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TBCE

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

UniProtKB/Swiss-Prot: 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
Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15813

  • TBCE Protein expression data from MOPED and PaxDb:    About this image 
    TBCE Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001072983.1  NP_003184.1  

    ENSEMBL proteins: 
     ENSP00000355560   ENSP00000384571   ENSP00000439170  
    Reactome Protein details: Q15813
    Human Recombinant Protein Products for TBCE: 
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    Novus Biologicals TBCE Protein
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    Uscn Proteins for TBCE

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    TBCE for ontologies           About GeneDecksing



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

    TBCE for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000938 CAP-Gly_domain

    Graphical View of Domain Structure for InterPro Entry Q15813

    ProtoNet protein and cluster: Q15813

    1 Blocks protein family: 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


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

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome ----
    GO:0051087chaperone binding TAS8706133
         
    TBCE for ontologies           About GeneDecksing


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

    TBCE for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TBCE 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTBCE 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBCE


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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Chaperonin-mediated protein folding
    Protein folding0.91
    2Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    Post-chaperonin tubulin folding pathway0.67
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for TBCE
        Post-chaperonin tubulin folding pathway
    Metabolism of proteins
    Protein folding



    TBCE for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBCE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/33 Interacting proteins for TBCE (Q158133 ENSP000003555604) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TUBA4AP683663, ENSP000002484374I2D: score=5 STRING: ENSP00000248437
    TBCDQ9BTW93, ENSP000003477194I2D: score=2 STRING: ENSP00000347719
    ENSG00000258947Q135093I2D: score=1 
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    PSMD12O002323, ENSP000003484424I2D: score=1 STRING: ENSP00000348442
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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 ----

    TBCE for ontologies           About GeneDecksing



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

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

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

    REFSEQ mRNAs for TBCE gene (2 alternative transcripts): 
    NM_001079515.1  NM_003193.3  

    Unigene Cluster for TBCE:

    Tubulin folding cofactor E
    Hs.498143  [show with all ESTs]
    Unigene Representative Sequence: AK296185
    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 QIAGEN miScript miRNA Assays for microRNAs that regulate TBCE:
    hsa-miR-137 hsa-miR-522 hsa-miR-224*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK093397.1 AK292287.1 AK296185.1 AK298050.1 BC008654.1 BT007086.1 U61232.1 

    18 DOTS entries:

    DT.100789308  DT.97844301  DT.452426  DT.121438774  DT.86853790  DT.100789309  DT.100789304  DT.121438919 
    DT.121438674  DT.100789307  DT.121438739  DT.121438842  DT.40132122  DT.40210627  DT.97779234  DT.40110379 
    DT.40119049  DT.95124398 

    24/149 AceView cDNA sequences (see all 149):

    BI760545 AA766244 BU192730 AL533627 CA432027 BE783109 BE891661 CR612606 
    CR599260 BM463617 BC008654 BX452392 CB123405 BE930422 AU132583 CF527732 
    AA349080 AU151375 BM701222 BM788830 CB851293 AA504618 BQ681955 CA487710 

    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

    TBCE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACAATTCAAA
    TBCE Expression
    About this image
    See TBCE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBCE

    SOURCE GeneReport for Unigene cluster: Hs.498143
        SABiosciences Custom PCR Arrays for TBCE

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBCE gene from 9/26 species (see all 26)    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 65.72(n)
    62.24(a)
      426319  XM_423980.3  XP_423980.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBCE6
    --
    56(a)
    1 ↔ 1
    1(219465333-219491716)
    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 57.48(n)
    52.62(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
    42.64(n)1
    33.53(a)1
      42A63
    355321  NM_206025.21  NP_995747.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K07H8.11 , 3 Protein K07H8.11 29(a)3
    43.14(n)1
    32.56(a)1
      IV(8294876-8297381)3
    1776241  NM_068994.31  NP_501395.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PFI1 tubulin folding cofactor E / Pfifferling (PFI) 40.57(n)
    29.08(a)
      843485  NM_105813.3  NP_565017.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01053001 hypothetical protein 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)
    About This Section
    Paralogs for TBCE gene
    TBCEL2  
    1 SIMAP similar gene for TBCE using alignment to 2 protein entries:     TBCE_HUMAN (see all proteins):
    RPS21

    TBCE for paralogs           About GeneDecksing



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

    10/1607 NCBI SNPs in TBCE are shown (see all 1607    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46598071,2
    C,F,H--235528759(+) ACACAA/C/GCACCA 2 -- us2k18NA WA CSA 16
    rs75563531,2
    C,F,A,H--235528993(+) TGTCTT/CCCCTG 2 -- us2k114Minor allele frequency- C:0.37NS NA WA CSA EA 592
    rs1481583521,2
    --235529030(+) CCTGAA/GTAGCT 2 -- us2k10--------
    rs1885956571,2
    --235529059(+) CACCAC/TGCCTG 2 -- us2k10--------
    rs113729221,2
    C--235529076(+) TTGTG-/TTTTTT 2 -- us2k10--------
    rs1806903691,2
    --235529109(+) ATTGCC/TCAGGC 2 -- us2k10--------
    rs75185771,2
    C,F,A,H--235529119(+) CTAGTC/TTTGAA 2 -- us2k111Minor allele frequency- T:0.23NA WA CSA EA 371
    rs1836213081,2
    --235529138(+) CTCAAC/GTGATC 2 -- us2k10--------
    rs1131390891,2
    C,F--235529191(+) GCCACC/TGTGCC 2 -- us2k11Minor allele frequency- T:0.02EA 120
    rs1896259521,2
    --235529213(+) AGTCTA/TAGTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBCE (235530675 - 235612283 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TBCE
         3 CNVs: 48278 97677 34781
    Human Gene Mutation Database (HGMD): TBCE

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

    TBCE for disorders           About GeneDecksing

    OMIM gene information: 604934   
    OMIM disorders: 244460  241410  
    UniProtKB/Swiss-Prot: TBCE_HUMAN, Q15813
  • Defects in TBCE are a cause of hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]; also
  • known as hypoparathyroidism with short stature, mental retardation, and seizures or Sanjad-Sakati syndrome. HRD is an
    autosomal recessive disorder reported almost exclusively in Middle Eastern populations
  • Defects in TBCE are the cause of Kenny-Caffey syndrome type 1 (KCS1) [MIM:244460]. KCS1 is similar to HRD with
  • the additional features of osteosclerosis and recurrent bacterial infections

    20/22 diseases for TBCE (see all 22):    About MalaCards
    kenny-caffey syndrome    kenny-caffey syndrome type 1    hypoparathyroidism-retardation-dysmorphism syndrome    hypoparathyroidism short stature mental retardation
    sakati syndrome    retinitis pigmentosa-2    hypoparathyroidism    short stature
    seborrheic keratosis    motor neuronopathy    hypodermyiasis    pituitary hormone deficiency
    corpus callosum    retinitis pigmentosa    osteosclerosis    keratosis
    retinitis    dermatitis    psoriasis    thyroiditis

    5 diseases from the University of Copenhagen DISEASES database for TBCE:
    Caffey disease     Hypoparathyroidism     Psoriasis     Dermatitis
    Hypodermyiasis

    2 Novoseek 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)

    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)
    About This Section

    PubMed articles for TBCE gene, integrated from 9 sources (see all 40):
    (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. (2002)
    2. Pathway leading to correctly folded beta-tubulin. (PubMed id 8706133)1, 2, 3 Tian G....Cowan N.J. (1996)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. 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)
    5. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. (PubMed id 11847227)1, 2 Bartolini F....Cowan N.J. (2002)
    6. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. (PubMed id 9806825)1, 3 Diaz G.A....Gelb B.D. (1998)
    7. Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. (PubMed id 17184771)1, 9 Kortazar D....Zabala J.C. (2007)
    8. Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease. (PubMed id 12446740)1, 9 Bommel H....Sendtner M. (2002)
    9. Mutation in the TBCE gene is associated with hypopara thyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficie ncies and hypoplasia of the anterior pituitary and the corpus callosum. (PubMed id 19491227)1, 9 Padidela R....Dattani M.T. (2009)
    10. A missense mutation in Tbce causes progressive motor neuronopathy in mice. (PubMed id 12389029)1, 9 Martin N....Guenet J.L. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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      (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: 6905 HGNC: 11582 AceView: TBCE Ensembl:ENSG00000116957 euGenes: HUgn6905
    ECgene: TBCE H-InvDB: TBCE

    (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 TBCE 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 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



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