TRP-AGG2-6

Summary

TRP-AGG2-6 (tRNA-Pro (anticodon AGG) 2-6, HGNC:12331) is a gene on chromosome 14q11.2.

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12331
Approved symbol	TRP-AGG2-6
Name	tRNA-Pro (anticodon AGG) 2-6
Location	14q11.2
Locus type	RNA, transfer
Status	Approved
Aliases	tRNA-Pro-AGG-2-6
OMIM	189931
Entrez	7218
RNAcentral	URS00005DB87D — tRNA, 72 nt, 211 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

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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:189931 | 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.