Human Gene MTARC2 (uc001hmq.3)
  Description: Homo sapiens mitochondrial amidoxime reducing component 2 (MTARC2), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_017898): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:220,921,676-220,957,596 Size: 35,921 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr1:220,921,874-220,955,243 Size: 33,370 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:220,921,676-220,957,596)mRNA (may differ from genome)Protein (335 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMGIneXtProtOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MOSC2_HUMAN
DESCRIPTION: RecName: Full=MOSC domain-containing protein 2, mitochondrial; EC=1.-.-.-; AltName: Full=Mitochondrial amidoxime reducing component 2; Short=mARC2; AltName: Full=Moco sulfurase C-terminal domain-containing protein 2; AltName: Full=Molybdenum cofactor sulfurase C-terminal domain-containing protein 2; Flags: Precursor;
FUNCTION: As a component of the benzamidoxime prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively.
COFACTOR: Molybdenum (Probable).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=830 uM for benzamidoxime; KM=3 mM for NOHA; KM=3.7 mM for NHAM; Vmax=307 nmol/min/mg enzyme toward benzamidoxime; Vmax=373 nmol/min/mg enzyme toward NOHA; Vmax=36.5 nmol/min/mg enzyme toward NHAM;
SUBUNIT: Component of a complex composed of cytochrome b5, NADH- cytochrome b5 reductase (CYB5R3) and MOSC2 (By similarity).
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Peripheral membrane protein. Peroxisome (By similarity).
SIMILARITY: Contains 1 MOSC domain.
SEQUENCE CAUTION: Sequence=BAA91287.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH70306.1; Type=Erroneous gene model prediction; Sequence=CAH71880.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mosc2/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.16 RPKM in Liver
Total median expression: 502.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.20198-0.410 Picture PostScript Text
3' UTR -71.80367-0.196 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005302 - MoCF_Sase_C
IPR005303 - MOSC_N
IPR011037 - Pyrv_Knase-like_insert_dom

Pfam Domains:
PF03473 - MOSC domain
PF03476 - MOSC N-terminal beta barrel domain

SCOP Domains:
50800 - PK beta-barrel domain-like

ModBase Predicted Comparative 3D Structure on Q969Z3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0008940 nitrate reductase activity
GO:0016491 oxidoreductase activity
GO:0030151 molybdenum ion binding
GO:0030170 pyridoxal phosphate binding
GO:0043546 molybdopterin cofactor binding

Biological Process:
GO:0042126 nitrate metabolic process
GO:0051410 detoxification of nitrogen compound
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005777 peroxisome
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  KJ899052 - Synthetic construct Homo sapiens clone ccsbBroadEn_08446 MARC2 gene, encodes complete protein.
AL136931 - Homo sapiens mRNA; cDNA DKFZp586G2122 (from clone DKFZp586G2122).
BC011973 - Homo sapiens MOCO sulphurase C-terminal domain containing 2, mRNA (cDNA clone MGC:17524 IMAGE:3458649), complete cds.
BC016859 - Homo sapiens MOCO sulphurase C-terminal domain containing 2, mRNA (cDNA clone MGC:17302 IMAGE:3849257), complete cds.
AB590090 - Synthetic construct DNA, clone: pFN21AE0466, Homo sapiens MOSC2 gene for MOCO sulphurase C-terminal domain containing 2, without stop codon, in Flexi system.
JD119678 - Sequence 100702 from Patent EP1572962.
AM393019 - Synthetic construct Homo sapiens clone IMAGE:100002470 for hypothetical protein (MOSC2 gene).
AM393631 - Synthetic construct Homo sapiens clone IMAGE:100002467 for hypothetical protein (MOSC2 gene).
CU677747 - Synthetic construct Homo sapiens gateway clone IMAGE:100018984 5' read MOSC2 mRNA.
BC010366 - Homo sapiens cDNA clone IMAGE:3826140.
BC015829 - Homo sapiens MOCO sulphurase C-terminal domain containing 2, mRNA (cDNA clone IMAGE:4618098), partial cds.
AK000612 - Homo sapiens cDNA FLJ20605 fis, clone KAT06247.
AK125512 - Homo sapiens cDNA FLJ43524 fis, clone PLACE5000297.
JD482477 - Sequence 463501 from Patent EP1572962.
JD085575 - Sequence 66599 from Patent EP1572962.
AK000583 - Homo sapiens cDNA FLJ20576 fis, clone REC00820.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q969Z3 (Reactome details) participates in the following event(s):

R-HSA-8936442 MARC1,MARC2 reduce N-hydroxylated compounds
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2D0R5, D3DTB3, MARC2, MOSC2, MOSC2_HUMAN, NM_017898, NP_060368, Q0JSK7, Q5VT67, Q5VXC7, Q7L317, Q969Z3, Q9H066, Q9NWU0
UCSC ID: uc001hmq.3
RefSeq Accession: NM_017898
Protein: Q969Z3 (aka MOSC2_HUMAN)
CCDS: CCDS1525.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017898.3
exon count: 8CDS single in 3' UTR: no RNA size: 1618
ORF size: 1008CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2214.00frame shift in genome: no % Coverage: 97.22
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.