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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:14172534-14214223 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 5.29 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    938 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917680
 protein coding gene Chr13:14172532-14214235 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020240
 protein coding gene Chr13:10966339-11002996 (-)
A/J MGP_AJ_G0020198
 protein coding gene Chr13:10894713-10932560 (-)
AKR/J MGP_AKRJ_G0020172
 protein coding gene Chr13:11006957-11049570 (-)
BALB/cJ MGP_BALBcJ_G0020184
 protein coding gene Chr13:10874220-10914022 (-)
C3H/HeJ MGP_C3HHeJ_G0019988
 protein coding gene Chr13:11162645-11208662 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020628
 protein coding gene Chr13:11539460-11582289 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018234
 protein coding gene Chr13:9623795-9662354 (-)
CAST/EiJ MGP_CASTEiJ_G0019522
 protein coding gene Chr13:10829446-10869715 (-)
CBA/J MGP_CBAJ_G0019952
 protein coding gene Chr13:11895655-11940940 (-)
DBA/2J MGP_DBA2J_G0020071
 protein coding gene Chr13:10545017-10581839 (-)
FVB/NJ MGP_FVBNJ_G0020052
 protein coding gene Chr13:10303469-10342216 (-)
LP/J MGP_LPJ_G0020141
 protein coding gene Chr13:11150345-11188728 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020089
 protein coding gene Chr13:11996854-12035221 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020655
 protein coding gene Chr13:10816524-10854087 (-)
PWK/PhJ MGP_PWKPhJ_G0019285
 protein coding gene Chr13:10618169-10655453 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019092
 protein coding gene Chr13:9982009-10020077 (-)
WSB/EiJ MGP_WSBEiJ_G0019583
 protein coding gene Chr13:10837972-10875658 (-)



Homology
more
  • Human Ortholog
    TBCE, tubulin folding cofactor E
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBCE, tubulin folding cofactor E
  • Synonyms
    HRD, KCS, KCS1, pac2, PEAMO
  • Links
    NCBI Gene ID: 6905
    neXtProt AC: NX_Q15813
    UniProt: Q15813

  • Chr Location
    1q42.3; chr1:235367360-235452443 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human TBCE associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    49 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.
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
less
  • All GO Annotations
    23
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    837
  • Tissues
    18
  • cDNA Data
    61
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039233 Ensembl Gene Model | MGI Sequence Detail 41690 C57BL/6J ±  kb
    transcript ENSMUST00000039894 Ensembl | MGI Sequence Detail 1844 Not Applicable  
    polypeptide ENSMUSP00000047880 Ensembl | MGI Sequence Detail 524 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      Genomic 4
      cDNA 62
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13370, MGI:1924940, MGI:97630
    References
    more
    • Summaries
      All 77
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 49
    • Earliest
      J:30914 Schmalbruch H, et al., A new mouse mutant with progressive motor neuronopathy. J Neuropathol Exp Neurol. 1991 May;50(3):192-204
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory