TRMU |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TRMU (HGNC:25481) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tRNA mitochondrial 2-thiouridylase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TRMT
- Alias symbols
- FLJ10140, MTO2, MTU1
- %HI
- 63.58(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.56(Read more about gnomAD LOEUF score)
- Cytoband
- 22q13.31
- Genomic Coordinates
-
GRCh37/hg19: chr22:46731611-46753237 NCBI Ensembl UCSC GRCh38/hg38: chr22:46335714-46357340 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018006.5 ENST00000645190.1 (Read more about MANE Select)
- Function
- Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. {ECO:0000269|PubMed:15509579, ECO:0000269|PubMed:15944150, ECO:0000269|PubMed:16826519}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36897
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)