UBE2T
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
UBE2T (HGNC:25009) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ubiquitin conjugating enzyme E2 T
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HSPC150, FANCT
%HI
19.95(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.08(Read more about gnomAD pLI score)
LOEUF
0.84(Read more about gnomAD LOEUF score)
Cytoband
1q32.1
Genomic Coordinates
GRCh37/hg19: chr1:202300785-202311064 NCBI Ensembl UCSC
GRCh38/hg38: chr1:202331657-202341936 NCBI Ensembl UCSC
MANE Select Transcript
NM_014176.4 ENST00000646651.1 (Read more about MANE Select)
Function
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784, PubMed:28437106). Also mediates monoub... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2773
ClinGen Curation ID:
CCID:008076
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:
09/01/2020

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Fanconi anemia complementation group T Monarch
HI Evidence Comments:
Biallelic variants of UBE2T, including compound heterozygous variants have been identified with Fanconi anemia, complementation group T (FANCT), an autosomal recessive condition. Virts et al 2015 (PMID: 26085575): Analysis of germline DNA of 814 normal individuals identified the heterozygous aluY-mediated deletion of UBE2T exons 2-6 in two normal individuals. Duplication of exons 2-6 were not found in normal individuals. They also tested 850 breast cancer patients who are German, and did not find any patient with either deletion or duplication of exons 2–6 in UBE2T. This suggesting aluY-mediated recombinations within the UBE2T locus are rare and not associated with an increased breast cancer risk. To further define the role of UBE2T germline mutations in patients with breast/ovarian cancer, they performed WES on 450 BRCA1/2 WT high-risk breast cancer patients. In a female patient <50 years of age, a novel frameshift mutation in UBE2T, c.415_418insAGCC, was detected and confirmed by amplicon resequencing. In summary, UBE2T might be a rare cancer susceptibility gene, but there is not enough evidence so far.

Triplosensitivity (TS) Score Details

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

Genomic View

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