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Tbce Gene Detail
Summary
  • Symbol
    Tbce
  • Name
    tubulin-specific chaperone E
  • Synonyms
    2610206D02Rik, C530005D02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917680
    NCBI Gene: 70430
  • Gene Overview
    MyGene.info: TBCE
Location & Maps
more
  • Sequence Map
    Chr13:13997949-14039638 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41690 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 5.29 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    TBCE, tubulin folding cofactor E
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TBCE, tubulin folding cofactor E
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HRD, KCS, KCS1, pac2
  • Links
    NCBI Gene ID: 6905
    neXtProt AC: NX_Q15813

  • Chr Location
    1q42.3; chr1:235367360-235448968 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 37744
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: TBCE
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human TBCE associations

Human Disease Mouse Models
       Hypoparathyroidism-Retardation-Dysmorphism Syndrome; HRD   OMIM: 241410
Kenny-Caffey Syndrome, Type 1; KCS1   OMIM: 244460
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    43 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    200
  • Gene trapped
    194
  • Spontaneous
    1
  • Targeted
    5
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    150 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 66
    Genomic 4
    cDNA 61
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13370, MGI:1924940, MGI:97630
References
more
  • Summaries
    All 69
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 43
  • 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:215345 Ruiz M, et al., Neurodegenerative changes are prevented by Erythropoietin in the pmn model of motoneuron degeneration. Neuropharmacology. 2014 Aug;83:137-53

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
09/27/2016
MGI 6.05
The Jackson Laboratory