TRL-AAG2-3

Summary

TRL-AAG2-3 (tRNA-Leu (anticodon AAG) 2-3, HGNC:12315) is a gene on chromosome 14q11.2.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12315
Approved symbol	TRL-AAG2-3
Name	tRNA-Leu (anticodon AAG) 2-3
Location	14q11.2
Locus type	RNA, transfer
Status	Approved
Aliases	tRNA-Leu-AAG-2-3
OMIM	189932
Entrez	7207
RNAcentral	URS0000120E41 — tRNA, 82 nt, 128 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

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

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression. (PMID:17656376)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 88 (showing top): GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_HEAD_DEVELOPMENT, GOBP_HINDBRAIN_MORPHOGENESIS, CTCTATG_MIR368, GOCC_EUCHROMATIN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, chr1p36

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

322 predictions. Top by Δscore:

Variant	Effect	Δscore
1:26994570:G:GT	donor_gain	1.0000
1:26994554:GAC:G	donor_gain	0.9900
1:26994576:G:GT	donor_gain	0.9900
1:26994550:G:GT	donor_gain	0.9800
1:26994571:A:T	donor_gain	0.9800
1:26994604:G:GT	donor_gain	0.9800
1:26994607:GC:G	donor_gain	0.9800
1:26994577:C:CA	donor_gain	0.9600
1:26994578:A:AA	donor_gain	0.9600
1:26999845:A:AG	acceptor_gain	0.9400
1:26999846:G:GG	acceptor_gain	0.9400
1:26994570:G:T	donor_gain	0.9000
1:26994609:TGAG:T	donor_loss	0.9000
1:26994610:GAGG:G	donor_loss	0.9000
1:26994611:AG:A	donor_loss	0.9000
1:26994612:GGTG:G	donor_loss	0.9000
1:26994613:G:GC	donor_loss	0.9000
1:26995498:C:G	donor_gain	0.9000
1:26999846:GCTC:G	acceptor_gain	0.8900
1:26994580:T:G	donor_gain	0.8800
1:26994597:A:AG	donor_gain	0.8700
1:26994598:G:GG	donor_gain	0.8700
1:26994778:G:GA	donor_gain	0.8500
1:26994285:T:TA	donor_gain	0.8400
1:26999842:TCCA:T	acceptor_loss	0.8400
1:26999843:CCAG:C	acceptor_loss	0.8400
1:26999844:CAGCT:C	acceptor_loss	0.8400
1:26999845:A:AC	acceptor_loss	0.8400
1:26999846:G:GC	acceptor_loss	0.8400
1:26999837:T:G	acceptor_loss	0.8300

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:189932 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.