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 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; chr1:235530728-235612280 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human TBCE

Alleles and phenotypes

All alleles(199) : Targeted(4) Gene trapped(194) Spontaneous(1)
 

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

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 Type	Results
RNA in situ	131

cDNA source data(63)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(69) Genomic(4) cDNA(64) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000035030 (Evidence)
Ensembl Gene Model	ENSMUSG00000039233 (Evidence)
Entrez Gene	70430 (Evidence)
UniGene	260209
DFCI	TC1580970, TC1622884, TC1661046
DoTS	DT.101251631, DT.101378296, DT.101378297, DT.535190, DT.91443905
NIA Mouse Gene Index	U034519
PDB	1WJN
Consensus CDS Project	CCDS26247.1
International Mouse Knockout Project Status	Tbce

Sequences

Length	Strain/Species
genomic	OTTMUSG00000035030	VEGA Gene Model | MGI Sequence Detail	41690	C57BL/6J
transcript	OTTMUST00000089082	VEGA | MGI Sequence Detail	1844	Not Applicable
polypeptide	OTTMUSP00000048631	VEGA | MGI Sequence Detail	524	Not Applicable

All sequences(60) RefSeq(2) UniProt(3)

Polymorphisms

PCR(1) : SNPs(135 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000938	CAP Gly-rich domain
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:195255 Selvaraj BT, et al., Local axonal function of STAT3 rescues axon degeneration in the pmn model of motoneuron disease. J Cell Biol. 2012 Oct 29;199(3):437-51
All references(69)

Other accession IDs

MGD-MRK-13370, MGI:1924940, MGI:97630