YARS2 tyrosyl-tRNA synthetase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: YARS2provided by HGNC
Official Full Name: tyrosyl-tRNA synthetase 2provided by HGNC
Primary source: HGNC:HGNC:24249
See related: Ensembl:ENSG00000139131 MIM:610957; AllianceGenome:HGNC:24249
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: TYRRS; CGI-04; MLASA2; MT-TYRRS
Summary: This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in brain (RPKM 10.0), endometrium (RPKM 8.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (32746544..32755897, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (32601526..32632178, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (32899478..32908831, complement)

Chromosome 12 - NC_000012.12 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
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?

Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
Title: Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression.
Title: Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression.
findings provide molecular-level insights into the pathophysiology of maternally transmitted deafness arising from the synergy between tRNA(Ser(UCN)) and mitochondrial YARS mutations
Title: Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA(Ser(UCN)) 7511A>G mutation.
Data suggest that biallelic tyrosyl-tRNA synthetase 2 (YARS2) variants, including severe loss-of-function alleles should be considered as a cause of isolated congenital sideroblastic anemia, as well as the myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2) syndromic phenotype.
Title: The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
tyrosyl-tRNA synthetase 2 tyrosine
Title: Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.
The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation in mitochondrial myopathy.
Title: Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
The mutation in YARS2 gene is a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Title: The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Data identified novel YARS2 mutations and noted marked phenotypic variability among YARS2 MLASA patients, with phenotypes ranging from mild to lethal, suggesting that the background mtDNA haplotype may be contributing to the phenotypic variability.
Title: Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
The study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes.
Title: A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Myopathy, lactic acidosis, and sideroblastic anemia 2 MedGen: C3150802 OMIM: 613561 GeneReviews: Not available	Compare labs

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	TAS Traceable Author Statement more info	PubMed
enables L-tyrosine binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables tRNA binding	TAS Traceable Author Statement more info	PubMed
enables tyrosine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tyrosine-tRNA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables tyrosine-tRNA ligase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial tyrosyl-tRNA aminoacylation	IC Inferred by Curator more info	PubMed
involved_in mitochondrial tyrosyl-tRNA aminoacylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA aminoacylation	IDA Inferred from Direct Assay more info	PubMed
involved_in translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IC Inferred by Curator more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: tyrosine--tRNA ligase, mitochondrial

Names: tyrosine tRNA ligase 2, mitochondrial; tyrosyl-tRNA synthetase 2, mitochondrial

NP_001035526.1

EC 6.1.1.1

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

NG_028122.1 RefSeqGene

Range

5057..14410

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040436.3 → NP_001035526.1 tyrosine--tRNA ligase, mitochondrial precursor

See identical proteins and their annotated locations for NP_001035526.1

Status: REVIEWED

Source sequence(s)

AI861961, BC015625, BM979973, DA748673, EB386795

Consensus CDS

CCDS31770.1

UniProtKB/Swiss-Prot

D3DUW8, Q9H817, Q9Y2Z4

Related

ENSP00000320658.8, ENST00000324868.13

Conserved Domains (1) summary

cl28425
Location:43 → 474

TyrS; Tyrosyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

32746544..32755897 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

32601526..32632178 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_008488600.1 RNA Sequence
XR_008488597.1 RNA Sequence
XR_008488598.1 RNA Sequence
XR_008488599.1 RNA Sequence
XR_008488596.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_015936.1: Suppressed sequence

Description

NM_015936.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.