MT-TV

Summary

MT-TV (mitochondrially encoded tRNA-Val (GUN), HGNC:7500) is a mitochondrial tRNA gene on chromosome mitochondria.

At a glance

• Gene type: non-coding (Mt_tRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7500
Approved symbol	MT-TV
Name	mitochondrially encoded tRNA-Val (GUN)
Location	mitochondria
Locus type	RNA, transfer
Status	Approved
Aliases	trnV
Ensembl gene	ENSG00000210077
Ensembl biotype	Mt_tRNA
OMIM	590105
Entrez	4577
RNAcentral	URS00002D2D8F — tRNA, 69 nt, 6 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 Mt_tRNA

ENST00000387342

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000387342 — 1 exons

Exon	Start	End
ENSE00001544498	1602	1670

Expression profiles

Bgee: expression breadth ubiquitous, 118 present calls, max score 99.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7095 / max 7706.9297, expressed in 1436 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194826	15.4697	1423
209541	0.2398	106

Top tissues by expression

118 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	99.91	gold quality
prefrontal cortex	UBERON:0000451	99.76	gold quality
amygdala	UBERON:0001876	99.55	gold quality
substantia nigra	UBERON:0002038	99.53	gold quality
caudate nucleus	UBERON:0001873	99.52	gold quality
putamen	UBERON:0001874	99.46	gold quality
nucleus accumbens	UBERON:0001882	99.43	gold quality
skeletal muscle tissue	UBERON:0001134	99.42	gold quality
adrenal tissue	UBERON:0018303	99.40	gold quality
Ammon’s horn	UBERON:0001954	99.39	gold quality
frontal cortex	UBERON:0001870	99.33	gold quality
apex of heart	UBERON:0002098	99.32	gold quality
hypothalamus	UBERON:0001898	99.31	gold quality
right frontal lobe	UBERON:0002810	99.30	gold quality
anterior cingulate cortex	UBERON:0009835	99.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.77	gold quality
adult mammalian kidney	UBERON:0000082	98.70	gold quality
cerebral cortex	UBERON:0000956	98.44	gold quality
heart left ventricle	UBERON:0002084	98.01	gold quality
granulocyte	CL:0000094	97.93	gold quality
vermiform appendix	UBERON:0001154	97.92	gold quality
duodenum	UBERON:0002114	97.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.56	gold quality
rectum	UBERON:0001052	97.43	gold quality
cerebellar hemisphere	UBERON:0002245	97.23	gold quality
kidney	UBERON:0002113	97.16	gold quality
leukocyte	CL:0000738	97.14	gold quality
monocyte	CL:0000576	97.08	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.96	gold quality
brain	UBERON:0000955	96.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.05

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Variations in the levels of mitochondrial valyl tRNA synthetase between tissue types and patients may underlie the difference in clinical presentation between individuals homoplasmic for the 1624C>T MTTV (equivalent to mt-tRNAVal C25U) mutation. (PMID:18400783)
• study describe 4 patients with the m.1644G>A in the MT-TV gene; the mutation appeared to have a steep threshold effect with asymptomatic life up to 70% mutation proportion, progressive encephalopathy above 80% and severe Leigh-like syndrome above 95% mutation (PMID:24691472)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.