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AARS2 alanyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 57505, updated on 9-Dec-2024

Summary

Official Symbol
AARS2provided by HGNC
Official Full Name
alanyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:21022
See related
Ensembl:ENSG00000124608 MIM:612035; AllianceGenome:HGNC:21022
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AARSL; LKENP; COXPD8; MTALARS; MT-ALARS
Summary
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in small intestine (RPKM 2.7), ovary (RPKM 2.7) and 25 other tissues See more
Orthologs
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Genomic context

See AARS2 in Genome Data Viewer
Location:
6p21.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44298731..44313347, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44132875..44147515, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44266468..44281084, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44232415-44232914 Neighboring gene NFKB inhibitor epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44243146-44243938 Neighboring gene transmembrane protein 151B Neighboring gene t-complex-associated-testis-expressed 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17263 Neighboring gene uncharacterized LOC124901322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:44280829-44281388 Neighboring gene spermatogenesis associated serine rich 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91950 Neighboring gene uncharacterized LOC124901323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24638 Neighboring gene cell division cycle 5 like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1270

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables alanine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables alanine-tRNA ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables aminoacyl-tRNA editing activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables peptide lactyltransferase (ATP-dependent) activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tRNA binding IEA
Inferred from Electronic Annotation
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
alanine--tRNA ligase, mitochondrial
Names
alanine tRNA ligase 2, mitochondrial (putative)
alanyl-tRNA synthetase 2, mitochondrial (putative)
alanyl-tRNA synthetase like
probable alanyl-tRNA synthetase, mitochondrial
NP_065796.2
XP_005249302.1
XP_054212038.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031952.2 RefSeqGene

    Range
    5000..19616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020745.4NP_065796.2  alanine--tRNA ligase, mitochondrial

    Status: REVIEWED

    Source sequence(s)
    AL353588
    Consensus CDS
    CCDS34464.1
    UniProtKB/Swiss-Prot
    A2RRN5, Q5JTZ9, Q8N198, Q96D02, Q9ULF0
    Related
    ENSP00000244571.4, ENST00000244571.5
    Conserved Domains (1) summary
    cl28133
    Location:46983
    tRNA-synt_2c; tRNA synthetases class II (A)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    44298731..44313347 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249245.4XP_005249302.1  alanine--tRNA ligase, mitochondrial isoform X1

    Conserved Domains (3) summary
    PLN02900
    Location:46886
    PLN02900; alanyl-tRNA synthetase
    cd00673
    Location:46249
    AlaRS_core; Alanyl-tRNA synthetase (AlaRS) class II core catalytic domain. AlaRS is a homodimer. It is responsible for the attachment of alanine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent formation of ...
    cl08469
    Location:457681
    tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

RNA

  1. XR_007059282.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    44132875..44147515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356063.1XP_054212038.1  alanine--tRNA ligase, mitochondrial isoform X1

RNA

  1. XR_008487367.1 RNA Sequence