Gene Page: AARS2
Summary ?
| GeneID | 57505 |
| Symbol | AARS2 |
| Synonyms | AARSL|COXPD8|LKENP|MT-ALARS|MTALARS |
| Description | alanyl-tRNA synthetase 2, mitochondrial |
| Reference | MIM:612035|HGNC:HGNC:21022|Ensembl:ENSG00000124608|HPRD:12397|Vega:OTTHUMG00000014766 |
| Gene type | protein-coding |
| Map location | 6p21.1 |
| Pascal p-value | 0.406 |
| Sherlock p-value | 5.53E-5 |
| Fetal beta | 0.352 |
| eGene | Myers' cis & trans |
| Support | Ascano FMRP targets |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GSMA_IIE | Genome scan meta-analysis (European-ancestry samples) | Psr: 0.04433 |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs16829545 | chr2 | 151977407 | AARS2 | 57505 | 1.204E-4 | trans | ||
| rs17124813 | chr10 | 110347464 | AARS2 | 57505 | 0.13 | trans | ||
| rs16955618 | chr15 | 29937543 | AARS2 | 57505 | 0 | trans | ||
| rs6032295 | chr20 | 44178138 | AARS2 | 57505 | 0.01 | trans | ||
| rs463433 | chr21 | 28179781 | AARS2 | 57505 | 0.07 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | - | |
| GO:0005524 | ATP binding | IEA | - | |
| GO:0004813 | alanine-tRNA ligase activity | IEA | - | |
| GO:0016874 | ligase activity | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0006419 | alanyl-tRNA aminoacylation | IEA | - | |
| GO:0006412 | translation | IEA | - | |
| GO:0043039 | tRNA aminoacylation | IEA | - | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005737 | cytoplasm | IEA | - | |
| GO:0005739 | mitochondrion | IEA | - | |
| GO:0005759 | mitochondrial matrix | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG AMINOACYL TRNA BIOSYNTHESIS | 41 | 33 | All SZGR 2.0 genes in this pathway |
| REACTOME MITOCHONDRIAL TRNA AMINOACYLATION | 21 | 17 | All SZGR 2.0 genes in this pathway |
| REACTOME TRNA AMINOACYLATION | 42 | 34 | All SZGR 2.0 genes in this pathway |
| GAUSSMANN MLL AF4 FUSION TARGETS A DN | 90 | 61 | All SZGR 2.0 genes in this pathway |
| ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP | 863 | 514 | All SZGR 2.0 genes in this pathway |
| GRADE COLON CANCER UP | 871 | 505 | All SZGR 2.0 genes in this pathway |