The TBCE gene homepage

General information
Gene symbol TBCE
Gene name tubulin folding cofactor E
Chromosome 1
Chromosomal band q42.3
Imprinted Unknown
Genomic reference NG_009230.1
Transcript reference NM_003193.3
Associated with diseases ID, KCS-1, PEAMO, Hypoparathyroidism-retardation-dysmorphism syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 117
Unique public DNA variants reported 92
Individuals with public variants 19
Hidden variants 16
Date created May 03, 2013
Date last updated September 17, 2021
Version TBCE:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 11582
Entrez Gene 6905
PubMed articles TBCE
OMIM - Gene 604934
OMIM - Diseases KCS-1 (Kenny-Caffey syndrome, type 1 (KCS-1))
PEAMO (encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO))
Hypoparathyroidism-retardation-dysmorphism syndrome
Orphanet TBCE

Active transcripts




NCBI ID     

NCBI Protein ID     

00020836 1 transcript variant 2 NM_003193.3 NP_003184.1 117

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