TBCE
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TBCE (HGNC:11582) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tubulin folding cofactor E
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KCS, HRD
Alias symbols
KCS1, pac2
%HI
28.98(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.87(Read more about gnomAD LOEUF score)
Cytoband
1q42.3
Genomic Coordinates
GRCh37/hg19: chr1:235530742-235615756 NCBI Ensembl UCSC
GRCh38/hg38: chr1:235367427-235452443 NCBI Ensembl UCSC
MANE Select Transcript
NM_003193.5 ENST00000642610.2 (Read more about MANE Select)
Function
Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network. {ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:27666369}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10133
ClinGen Curation ID:
CCID:007973
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/17/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hypoparathyroidism-retardation-dysmorphism syndrome Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with encephalopathy, progressive, with amyotrophy and optic atrophy, Kenny-Caffey syndrome, type 1, and hypoparathyroidism-retardation-dysmorphism syndrome per OMIM.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)