MTARC2 Gene (Protein Coding)

Mitochondrial Amidoxime Reducing Component 2

GC01P220748
GIFtS:
30
The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates in... See more...

Aliases for MTARC2 Gene

Aliases for MTARC2 Gene

  • Mitochondrial Amidoxime Reducing Component 2 2 3 4 5
  • MARC2 3 4 4
  • Molybdenum Cofactor Sulfurase C-Terminal Domain-Containing Protein 2 3 4
  • Moco Sulfurase C-Terminal Domain-Containing Protein 2 3 4
  • MOCO Sulphurase C-Terminal Domain Containing 2 2 3
  • MOSC2 3 4
  • MOSC Domain-Containing Protein 2, Mitochondrial 3
  • MOSC Domain-Containing Protein 2 4
  • EC 1.7.-.- 4
  • FLJ20605 2
  • MTARC2 5

External Ids for MTARC2 Gene

Previous HGNC Symbols for MTARC2 Gene

  • MOSC2
  • MARC2

Summaries for MTARC2 Gene

Entrez Gene Summary for MTARC2 Gene

  • The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]

GeneCards Summary for MTARC2 Gene

MTARC2 (Mitochondrial Amidoxime Reducing Component 2) is a Protein Coding gene. Diseases associated with MTARC2 include Epilepsy, Familial Adult Myoclonic, 3 and Epilepsy, Familial Adult Myoclonic, 2. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. An important paralog of this gene is MTARC1.

UniProtKB/Swiss-Prot Summary for MTARC2 Gene

  • Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles (PubMed:21029045, PubMed:24423752). As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability (PubMed:21029045, PubMed:24423752). May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis (PubMed:21029045). Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transfer from NADH to cytochrome b5 reductase then to cytochrome b5, the ultimate electron donor that primes the active site for substrate reduction (PubMed:21029045).

Gene Wiki entry for MTARC2 Gene

Additional gene information for MTARC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTARC2 Gene

Genomics for MTARC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MTARC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J220746 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +2.0 1954 5.2 ZBTB10 MXD4 CEBPA ZNF610 CEBPB MAX SMAD4 SAP130 ZNF341 POLR2A HSALNG0010752 MTARC2 RF00017-482 C1orf115 MTARC1
GH01J221706 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.4 +963.0 963033 7.5 TBP ZBTB10 SP1 BCL11A FEZF1 CEBPA MNT IKZF1 SMAD5 HES1 DUSP10 HHIPL2 MTARC2 LOC105372945 MN308857 HLX
GH01J220685 Enhancer 0.5 Ensembl 16.2 -61.8 -61806 1.3 CTCF RAD21 SMC3 XRCC5 ZBTB20 ZNF10 MTARC2 MTARC1 C1orf115 lnc-RAB3GAP2-4 MARK1
GH01J220698 Enhancer 0.7 ENCODE 10.3 -48.6 -48563 0.2 CEBPA SMAD4 SAP130 RXRA RARA TEAD3 THRB BCL6 CREM SOX5 MTARC2 C1orf115 HSALNG0010747
GH01J220699 Enhancer 0.6 Ensembl 10.9 -45.6 -45616 4 ZIC2 RBM22 PRDM10 SPI1 POLR2A SCRT1 TCF7 NR2F1 JUNB IKZF1 C1orf115 MTARC2 HSALNG0010747
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTARC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTARC2

Genomic Locations for MTARC2 Gene

Latest Assembly
chr1:220,747,417-220,784,815
(GRCh38/hg38)
Size:
37,399 bases
Orientation:
Plus strand

Previous Assembly
chr1:220,921,664-220,958,157
(GRCh37/hg19 by Entrez Gene)
Size:
36,494 bases
Orientation:
Plus strand

chr1:220,921,567-220,958,150
(GRCh37/hg19 by Ensembl)
Size:
36,584 bases
Orientation:
Plus strand

Genomic View for MTARC2 Gene

Genes around MTARC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTARC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTARC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MTARC2 Gene

Proteins for MTARC2 Gene

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  • Protein details for MTARC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969Z3-MARC2_HUMAN
    Recommended name:
    Mitochondrial amidoxime reducing component 2
    Protein Accession:
    Q969Z3
    Secondary Accessions:
    • B2D0R5
    • D3DTB3
    • Q0JSK7
    • Q5VT67
    • Q5VXC7
    • Q7L317
    • Q9H066
    • Q9NWU0

    Protein attributes for MTARC2 Gene

    Size:
    335 amino acids
    Molecular mass:
    38023 Da
    Cofactor:
    Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302;
    Quaternary structure:
    • Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MTARC2.
    SequenceCaution:
    • Sequence=BAA91287.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTARC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTARC2 Gene

Post-translational modifications for MTARC2 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys59, Lys138, Lys144, Lys166, Lys173, Lys187, Lys287, and Lys294
  • Modification sites at PhosphoSitePlus

Other Protein References for MTARC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MTARC2 Gene

Domains & Families for MTARC2 Gene

Gene Families for MTARC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MTARC2 Gene

InterPro:
Blocks:
  • MOSC domain
ProtoNet:

Suggested Antigen Peptide Sequences for MTARC2 Gene

GenScript: Design optimal peptide antigens:
  • MOSC domain-containing protein 2, mitochondrial (MOSC2_HUMAN)
genes like me logo Genes that share domains with MTARC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MTARC2 Gene

Function for MTARC2 Gene

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  6. Cell Lines for research

Molecular function for MTARC2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles (PubMed:21029045, PubMed:24423752). As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability (PubMed:21029045, PubMed:24423752). May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis (PubMed:21029045). Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transfer from NADH to cytochrome b5 reductase then to cytochrome b5, the ultimate electron donor that primes the active site for substrate reduction (PubMed:21029045).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + 2 H(+) + N(omega)-hydroxy-L-arginine = 2 [Fe(III)-cytochrome b5] + H2O + L-arginine; Xref=Rhea:RHEA:61644, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:32682, ChEBI:CHEBI:60107; Evidence={ECO:0000269|PubMed:21029045};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=830 uM for benzamidoxime {ECO:0000269|PubMed:21029045, ECO:0000269|PubMed:24423752}; KM=400 uM for benzamidoxime (at pH 6.0 and 37 degrees Celsius) {ECO:0000269|PubMed:24423752}; KM=3 mM for NOHA {ECO:0000269|PubMed:21029045, ECO:0000269|PubMed:24423752}; KM=3.7 mM for NHAM {ECO:0000269|PubMed:21029045, ECO:0000269|PubMed:24423752}; Vmax=307 nmol/min/mg enzyme toward benzamidoxime {ECO:0000269|PubMed:21029045, ECO:0000269|PubMed:24423752}; Vmax=119 nmol/min/mg enzyme toward benzamidoxime (at pH 6.0 and 37 degrees Celsius) {ECO:0000269|PubMed:24423752}; Vmax=373 nmol/min/mg enzyme toward NOHA {ECO:0000269|PubMed:21029045, ECO:0000269|PubMed:24423752}; Vmax=36.5 nmol/min/mg enzyme toward NHAM {ECO:0000269|PubMed:21029045, ECO:0000269|PubMed:24423752};

Enzyme Numbers (IUBMB) for MTARC2 Gene

Phenotypes From GWAS Catalog for MTARC2 Gene

Gene Ontology (GO) - Molecular Function for MTARC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0008940 nitrate reductase activity IBA,IDA 20861021
GO:0016491 oxidoreductase activity IEA --
GO:0016661 oxidoreductase activity, acting on other nitrogenous compounds as donors IMP 25713076
GO:0030151 molybdenum ion binding IEA,IDA 20861021
genes like me logo Genes that share ontologies with MTARC2: view
genes like me logo Genes that share phenotypes with MTARC2: view

Animal Models for MTARC2 Gene

MGI Knock Outs for MTARC2:
  • Mtarc2 Mtarc2<tm2a(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTARC2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTARC2 Gene

Localization for MTARC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTARC2 Gene

Mitochondrion outer membrane. Peripheral membrane protein. Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTARC2 gene
Compartment Confidence
mitochondrion 5
peroxisome 3
cytosol 3
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
plasma membrane 0

Gene Ontology (GO) - Cellular Components for MTARC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,ISS --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005777 peroxisome IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MTARC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTARC2 Gene

Pathways & Interactions for MTARC2 Gene

genes like me logo Genes that share pathways with MTARC2: view

Pathways by source for MTARC2 Gene

Gene Ontology (GO) - Biological Process for MTARC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0006809 nitric oxide biosynthetic process IDA 24500710
GO:0042126 nitrate metabolic process IBA,IDA 20861021
GO:0051410 detoxification of nitrogen compound NAS 20861021
GO:0055114 oxidation-reduction process IBA --
genes like me logo Genes that share ontologies with MTARC2: view

No data available for SIGNOR curated interactions for MTARC2 Gene

Drugs & Compounds for MTARC2 Gene

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(2) Drugs for MTARC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Molybdenum Approved Pharma 28
NADH Approved Nutra 0
genes like me logo Genes that share compounds with MTARC2: view

Transcripts for MTARC2 Gene

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mRNA/cDNA for MTARC2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTARC2

Alternative Splicing Database (ASD) splice patterns (SP) for MTARC2 Gene

No ASD Table

Relevant External Links for MTARC2 Gene

GeneLoc Exon Structure for
MTARC2

Expression for MTARC2 Gene

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  1. Primer products for research

SOURCE GeneReport for Unigene cluster for MTARC2 Gene:

Hs.369042

Evidence on tissue expression from TISSUES for MTARC2 Gene

  • Liver(4.5)
  • Lung(4.3)
  • Intestine(4.2)
  • Kidney(2.4)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTARC2 Gene

Orthologs for MTARC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTARC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MOSC2 30 31
  • 98.91 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MOSC2 30
  • 83.78 (n)
MARC2 31
  • 79 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MARC2 30 31
  • 82.51 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Marc2 30 31
  • 79.2 (n)
 OneToOne
Mtarc2 17
Rat
(Rattus norvegicus)
 Mammalia LOC100910481 30
  • 79.2 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MARC2 31
  • 68 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MARC2 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 55 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 57 (a)
 ManyToMany
-- 31
  • 54 (a)
 ManyToMany
-- 31
  • 49 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia marc1 30
  • 56.61 (n)
Zebrafish
(Danio rerio)
 Actinopterygii MARC2 31
  • 45 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CG1665 31
  • 26 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea F56A11.5 31
  • 30 (a)
 ManyToMany
F22B8.7 31
  • 29 (a)
 ManyToMany
F53E10.1 31
  • 28 (a)
 ManyToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT5G44720 30
  • 46.12 (n)
Rice
(Oryza sativa)
 Liliopsida Os09g0560800 30
  • 45.65 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 17 (a)
 OneToMany
Species where no ortholog for MTARC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTARC2 Gene

ENSEMBL:
Gene Tree for MTARC2 (if available)
TreeFam:
Gene Tree for MTARC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTARC2: view image

Paralogs for MTARC2 Gene

Paralogs for MTARC2 Gene

Pseudogenes.org Pseudogenes for MTARC2 Gene

genes like me logo Genes that share paralogs with MTARC2: view

Variants for MTARC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTARC2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs3795535 - p.Gly244Ser
rs72472370 - p.Ala3Ser
rs76664695 - p.Cys245Trp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTARC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MTARC2 Gene

Variant ID Type Subtype PubMed ID
nsv160470 CNV deletion 16902084
nsv523389 CNV loss 19592680

Variation tolerance for MTARC2 Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTARC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTARC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTARC2 Gene

Disorders for MTARC2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MTARC2 Gene - From: COP

Disorder Aliases PubMed IDs
epilepsy, familial adult myoclonic, 3
  • fame3
epilepsy, familial adult myoclonic, 2
  • fame2
ivic syndrome
  • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
microphthalmia, syndromic 10
  • mcops10
familial adult myoclonic epilepsy
  • bafme
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTARC2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTARC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTARC2 Gene

Publications for MTARC2 Gene

  1. Functional characterization of protein variants encoded by nonsynonymous single nucleotide polymorphisms in MARC1 and MARC2 in healthy Caucasians. (PMID: 24423752) Ott G … Havemeyer A (Drug metabolism and disposition: the biological fate of chemicals 2014) 3 4
  2. Reduction of N(ω)-hydroxy-L-arginine by the mitochondrial amidoxime reducing component (mARC). (PMID: 21029045) Kotthaus J … Clement B (The Biochemical journal 2011) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for MTARC2 gene in Mastermind

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