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Tbce
Gene Detail
 Symbol
Name
ID
Tbce
tubulin-specific chaperone E
MGI:1917680
Synonyms 2610206D02Rik, C530005D02Rik
Feature Type protein coding gene
Genetic Map
Chromosome 13
5.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr13:13997949-14039638 bp, - strand
From VEGA annotation of GRCm38

  41690 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37744  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Tbce

Human
homologs
Human Homolog TBCE, tubulin folding cofactor E
NCBI Gene ID 6905
neXtProt AC  NX_Q15813
Human Synonyms  HRD, KCS, KCS1, pac2
Human Chr (Location)  1q42.3; chr1:235367360-235448968 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human TBCE
Mutations,
alleles, and
phenotypes
All mutations/alleles(199) : Gene trapped(194) Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a spontaneous mutation exhibit progressive caudal-cranial motor neuron degeneration, beginning around 3 weeks and culminating in death due to respiratory paralysis by 7 weeks. The sciatic and phrenic nerves are especially affected.
 
Interactions
Tbce interacts with 221 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process adult locomotory behavior, axonogenesis, ...
Component cytoplasm, cytoskeleton
Function unfolded protein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (131)    Tissues (18)    Images (21)
Theiler Stages: 23
Assay TypeResults
RNA in situ 131
cDNA source data(60)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(66) Genomic(4) cDNA(61) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000035030 (Evidence)
Ensembl Gene ModelENSMUSG00000039233 (Evidence)
Entrez Gene70430 (Evidence)
UniGene260209
DFCITC1580970, TC1622884, TC1661046
DoTSDT.101251631, DT.101378296, DT.101378297, DT.535190, DT.91443905
NIA Mouse Gene IndexU034519
PDB1WJN
Consensus CDS ProjectCCDS26247.1
International Mouse Knockout Project StatusTbce
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035030 VEGA Gene Model | MGI Sequence Detail 41690 C57BL/6J ±  kb
transcript OTTMUST00000089082 VEGA | MGI Sequence Detail 1844 Not Applicable 
polypeptide OTTMUSP00000048631 VEGA | MGI Sequence Detail 524 Not Applicable 

For the selected sequences
All sequences(70) RefSeq(12) UniProt(3)
Polymorphisms PCR(1) : SNPs within 2kb(156 from dbSNP Build 137)    SNPs within 2kb including multiple locations(158)
Protein-related
information
ResourceIDDescription
InterPro IPR000938 CAP Gly-rich domain
InterPro IPR000626 Ubiquitin
Protein Ontology PR:000016129 tubulin-specific chaperone E
References (Earliest) J:14295 Schmalbruch H, et al., 'Progressive motor neuropathy' (pmn), a new neurological mutant in the mouse. Mouse Genome. 1990;87:113
(Latest) J:206608 Rak K, et al., Mutation of the TBCE gene causes disturbance of microtubules in the auditory nerve and cochlear outer hair cell degeneration accompanied by progressive hearing loss in the pmn/pmn mouse. Exp Neurol. 2013 Dec;250:333-40
All references(71)
Other
accession IDs
MGD-MRK-13370, MGI:1924940, MGI:97630

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory