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Gene: TBCE (tubulin folding cofactor E) Homo sapiens
Symbol: TBCE
Name: tubulin folding cofactor E
Description: Predicted to have alpha-tubulin binding activity. Involved in mitotic spindle organization and post-chaperonin tubulin folding pathway. Predicted to localize to the cytoplasm. Implicated in hypoparathyroidism and hypoparathyroidism-retardation-dysmorphism syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HRD; hypoparathyroidism, growth and mental retardation, and dysmorphism; KCS; KCS1; Kenny-Caffey syndrome; pac2; PEAMO; tubulin-folding cofactor E; tubulin-specific chaperone E
Mus musculus (house mouse) : Tbce (tubulin-specific chaperone E)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tbce (tubulin folding cofactor E)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tbce (tubulin folding cofactor E)
Pan paniscus (bonobo/pygmy chimpanzee) : TBCE (tubulin folding cofactor E)
Canis lupus familiaris (dog) : TBCE (tubulin folding cofactor E)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tbce (tubulin folding cofactor E)
Sus scrofa (pig) : TBCE (tubulin folding cofactor E)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381235,367,360 - 235,452,443 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371235,530,728 - 235,612,280 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361233,597,351 - 233,678,903 (+)NCBINCBI36hg18NCBI36
Build 341231,856,811 - 231,938,321NCBI
Celera1208,773,486 - 208,855,524 (+)NCBI
Cytogenetic Map1q42.3NCBI
HuRef1205,979,723 - 206,063,927 (+)NCBIHuRef
CHM1_11236,802,991 - 236,884,880 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TBCE
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1313614
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.