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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AARS2 as a novel biomarker for prognosis and its molecular characterization in pan-cancer.
Title: AARS2 as a novel biomarker for prognosis and its molecular characterization in pan-cancer.
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Title: Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
This is the first report of a homozygous pathogenic AARS2 mutation in premature ovarian insufficiency.
Title: Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency.
clinical, biochemical and molecular investigations of two unrelated boys presenting with fatal infantile cardiomyopathy, lactic acidosis and respiratory failure
Title: Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
AARS2-related leukoencephalopathy is a new variant of mitochondrial encephalomyopathy.
Title: AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Two AARS2 variants, (c.2872C > T) and (c.1774C > T), were identified in a child with cardiomyopathy with early-onset brain disease.
Title: Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Three patients with ovarioleukodystrophy, carrying AARS2 compound heterozygous mutations have been found.
Title: AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Missense variants in the AARS2 gene are the likely cause of the retinopathy and optic atrophy in this patient. This finding expands the phenotypic spectrum of the AARS2 gene.
Title: Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.
Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Title: Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
This paper documented a new, nonsense AARS2 gene mutation (c.578T>G, p.Leu193*) and a known missense mutation (c.595C>T, p.Arg199Cys) associated with leukoencephalopathy in a male patient.
Title: Novel AARS2 gene mutation producing leukodystrophy: a case report.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation defect type 8 MedGen: C4518839 OMIM: 614096 GeneReviews: Not available	not available
Leukoencephalopathy, progressive, with ovarian failure MedGen: C4014588 OMIM: 615889 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

D11S1286 (e-PCR), detects polymorphism
- UniSTS:71830

L17877 (e-PCR)
- UniSTS:61334

L17809 (e-PCR)
- UniSTS:39087

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 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

Process	Evidence Code	Pubs
involved_in alanyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in aminoacyl-tRNA metabolism involved in translational fidelity	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial alanyl-tRNA aminoacylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	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

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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

EC 6.1.1.7

XP_005249302.1

EC 6.1.1.7

XP_054212038.1

EC 6.1.1.7

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

NG_031952.2 RefSeqGene

Range

5000..19616

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020745.4 → NP_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:46 → 983

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

44298731..44313347 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

PLN02900
Location:46 → 886

PLN02900; alanyl-tRNA synthetase

cd00673
Location:46 → 249

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:457 → 681

tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain