IARS2 isoleucyl-tRNA synthetase 2, mitochondrial [Homo sapiens (human)] - Gene

Summary

Official Symbol: IARS2provided by HGNC
Official Full Name: isoleucyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source: HGNC:HGNC:29685
See related: Ensembl:ENSG00000067704 MIM:612801; AllianceGenome:HGNC:29685
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: ILERS; CAGSSS
Summary: Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]
Expression: Ubiquitous expression in fat (RPKM 38.4), kidney (RPKM 32.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q41

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (220094132..220148041)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (219333406..219387315)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (220267474..220321383)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
Title: IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia.
Title: Biallelic IARS2 mutations presenting as sideroblastic anemia.
IARS2 knockdown can inhibit acute myeloid leukemia HL-60 cell proliferation and cause cell cycle arrest at the G1 phase by regulating the p53/p21/PCNA/eIF4E pathways.
Title: Knockdown of IARS2 Inhibited Proliferation of Acute Myeloid Leukemia Cells by Regulating p53/p21/PCNA/eIF4E Pathway.
IARS2 silencing induced NSCLC cells growth inhibition, cell cycle arrest and promoted cell apoptosis
Title: IARS2 silencing induces non-small cell lung cancer cells proliferation inhibition, cell cycle arrest and promotes cell apoptosis.
Patients with this very rare mutation present with a myriad of ocular findings, including infantile cataract, neurotrophic keratitis, corneal opacification, and orbital myopathy.
Title: Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy.
The expression of IARS2 gene is different in human colon cancer and surrounding tissues. IARS2 gene is probably a cancer-promoting gene
Title: Expression of IARS2 gene in colon cancer and effect of its knockdown on biological behavior of RKO cells.
This study is the first report of clinical findings associated with IARS2 mutations.
Title: Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.

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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
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MedGen: C4014942 OMIM: 616007 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif interacts with IARS2	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-132443 (e-PCR)
- UniSTS:173903

RH35983 (e-PCR)
- UniSTS:62864

SHGC-31919 (e-PCR)
- UniSTS:25495

SHGC-23988 (e-PCR)
- UniSTS:25496

RH69283 (e-PCR)
- UniSTS:60635

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables aminoacyl-tRNA editing activity	IEA Inferred from Electronic Annotation more info
enables isoleucine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables isoleucine-tRNA ligase activity	TAS Traceable Author Statement more info
enables tRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aminoacyl-tRNA metabolism involved in translational fidelity	IEA Inferred from Electronic Annotation more info
involved_in isoleucyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA aminoacylation for protein translation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: isoleucine--tRNA ligase, mitochondrial

Names: isoleucine tRNA ligase 2, mitochondrial; isoleucine-tRNA synthetase 2, mitochondrial; isoleucyl-tRNA synthetase, mitochondrial; mitochondrial isoleucine tRNA synthetase

NP_060530.3

EC 6.1.1.5

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_041799.1 RefSeqGene

Range

5020..58929

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018060.4 → NP_060530.3 isoleucine--tRNA ligase, mitochondrial precursor

See identical proteins and their annotated locations for NP_060530.3

Status: REVIEWED

Source sequence(s)

BC040376, BI459732, BM149097

Consensus CDS

CCDS1523.1

UniProtKB/Swiss-Prot

B2RPG8, Q1M2P9, Q6PI85, Q7L439, Q86WU9, Q96D91, Q9H9Q8, Q9NSE4, Q9NW42

UniProtKB/TrEMBL

A8K5W7

Related

ENSP00000355889.2, ENST00000366922.3

Conserved Domains (6) summary

cd07960
Location:711 → 890

Anticodon_Ia_Ile_BEm; Anticodon-binding domain of bacterial and eukaryotic mitochondrial isoleucyl tRNA synthetases

cd00818
Location:472 → 708

IleRS_core; catalytic core domain of isoleucyl-tRNA synthetases

PRK05743
Location:60 → 1011

ileS; isoleucyl-tRNA synthetase; Reviewed

pfam06827
Location:985 → 1006

zf-FPG_IleRS; Zinc finger found in FPG and IleRS

pfam13603
Location:266 → 440

tRNA-synt_1_2; Leucyl-tRNA synthetase, Domain 2

cl00015
Location:107 → 245

nt_trans; nucleotidyl transferase superfamily