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Aliases for MARC2 Gene

Aliases for MARC2 Gene

  • Mitochondrial Amidoxime Reducing Component 2 2 3 5
  • 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.-.-.- 4
  • MARC2 4

External Ids for MARC2 Gene

Previous HGNC Symbols for MARC2 Gene

  • MOSC2

Previous GeneCards Identifiers for MARC2 Gene

  • GC01P220922

Summaries for MARC2 Gene

Entrez Gene Summary for MARC2 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 MARC2 Gene

MARC2 (Mitochondrial Amidoxime Reducing Component 2) is a Protein Coding gene. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and molybdenum ion binding. An important paralog of this gene is MARC1.

UniProtKB/Swiss-Prot for MARC2 Gene

  • 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.

Gene Wiki entry for MARC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MARC2 Gene

Genomics for MARC2 Gene

Regulatory Elements for MARC2 Gene

Enhancers for MARC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G220818 1 Ensembl ENCODE 9.7 +71.5 71484 1.9 CTCF ESRRA PKNOX1 JUN ZNF316 FOS MAFK SCRT1 L3MBTL2 GFI1B HLX MARC2 RNU6ATAC35P HLX-AS1 MARC1
GH01G220698 0.9 ENCODE 10.3 -48.6 -48649 0.2 PKNOX1 THRB RARA YY1 CREM MIXL1 HMG20B SP5 CEBPB KAT8 MARC2 C1orf115
GH01G221706 2 FANTOM5 Ensembl ENCODE dbSUPER 4.4 +962.9 962948 7.5 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 SIN3A FEZF1 ZNF2 YY1 DUSP10 HHIPL2 MARC2 LOC105372945
GH01G220789 0.7 Ensembl 10.9 +42.6 42599 1.0 ZNF146 ZMYM3 MAX CEBPG YY1 SCRT2 GATAD2A ZNF280D HLF CEBPB MARC1 MARC2 RNU6ATAC35P
GH01G220766 1.2 Ensembl ENCODE 4.8 +20.6 20559 3.5 ELF3 FOXA2 ARID4B DMAP1 RAD21 RARA YY1 CREM MIXL1 CEBPB C1orf115 MARC1 MARC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MARC2 on UCSC Golden Path with GeneCards custom track

Promoters for MARC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020405 1098 1600 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 SLC30A9 GLIS2 ZNF263

Genomic Location for MARC2 Gene

Chromosome:
1
Start:
220,747,502 bp from pter
End:
220,784,815 bp from pter
Size:
37,314 bases
Orientation:
Plus strand

Genomic View for MARC2 Gene

Genes around MARC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARC2 Gene

Proteins for MARC2 Gene

  • Protein details for MARC2 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 MARC2 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 MARC2.
    SequenceCaution:
    • Sequence=BAA91287.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH70306.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH71880.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MARC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARC2 Gene

Post-translational modifications for MARC2 Gene

  • Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at posLast=5959, posLast=138138, posLast=144144, posLast=166166, posLast=173173, Lys187, posLast=287287, and posLast=294294
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MARC2 Gene

Domains & Families for MARC2 Gene

Protein Domains for MARC2 Gene

Suggested Antigen Peptide Sequences for MARC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MARC2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MARC2 Gene

Function for MARC2 Gene

Molecular function for MARC2 Gene

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};
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MARC2 Gene

Gene Ontology (GO) - Molecular Function for MARC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008940 nitrate reductase activity IDA 20861021
GO:0016491 oxidoreductase activity IEA --
GO:0030151 molybdenum ion binding IEA,IDA 20861021
GO:0030170 pyridoxal phosphate binding IEA --
GO:0043546 molybdopterin cofactor binding IDA 20861021
genes like me logo Genes that share ontologies with MARC2: view
genes like me logo Genes that share phenotypes with MARC2: view

Animal Models for MARC2 Gene

MGI Knock Outs for MARC2:

Animal Model Products

  • Taconic Biosciences Mouse Models for MARC2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MARC2 Gene

Localization for MARC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARC2 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 MARC2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
peroxisome 3
cytosol 3
nucleus 2
golgi apparatus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MARC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS,IDA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005777 peroxisome IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MARC2: view

Pathways & Interactions for MARC2 Gene

genes like me logo Genes that share pathways with MARC2: view

Pathways by source for MARC2 Gene

Gene Ontology (GO) - Biological Process for MARC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0042126 nitrate metabolic process IDA 20861021
GO:0051410 detoxification of nitrogen compound NAS 20861021
GO:0055114 oxidation-reduction process IEA,IDA 20861021
genes like me logo Genes that share ontologies with MARC2: view

No data available for SIGNOR curated interactions for MARC2 Gene

Drugs & Compounds for MARC2 Gene

(2) Drugs for MARC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Molybdenum Pharma 29
NADH Nutra 0
genes like me logo Genes that share compounds with MARC2: view

Transcripts for MARC2 Gene

Unigene Clusters for MARC2 Gene

Mitochondrial amidoxime reducing component 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MARC2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5:
SP6: - -
SP7:

Relevant External Links for MARC2 Gene

GeneLoc Exon Structure for
MARC2
ECgene alternative splicing isoforms for
MARC2

Expression for MARC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MARC2 Gene

mRNA differential expression in normal tissues according to GTEx for MARC2 Gene

This gene is overexpressed in Liver (x8.8).

Protein differential expression in normal tissues from HIPED for MARC2 Gene

This gene is overexpressed in Liver (19.0) and Kidney (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MARC2 Gene



Protein tissue co-expression partners for MARC2 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for MARC2 Gene:

Hs.369042

Evidence on tissue expression from TISSUES for MARC2 Gene

  • Liver(4.4)
  • Lung(4.3)
  • Intestine(4.2)
  • Kidney(2.3)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with MARC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MARC2 Gene

Orthologs for MARC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MARC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MOSC2 34 35
  • 98.91 (n)
cow
(Bos Taurus)
Mammalia MOSC2 34
  • 83.78 (n)
MARC2 35
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MARC2 34 35
  • 82.51 (n)
mouse
(Mus musculus)
Mammalia Marc2 34 16 35
  • 79.2 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910481 34
  • 79.2 (n)
oppossum
(Monodelphis domestica)
Mammalia MARC2 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MARC2 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 57 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia marc1 34
  • 56.61 (n)
zebrafish
(Danio rerio)
Actinopterygii MARC2 35
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1665 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F56A11.5 35
  • 30 (a)
ManyToMany
F22B8.7 35
  • 29 (a)
ManyToMany
F53E10.1 35
  • 28 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G44720 34
  • 46.12 (n)
rice
(Oryza sativa)
Liliopsida Os09g0560800 34
  • 45.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
OneToMany
Species where no ortholog for MARC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 MARC2 Gene

ENSEMBL:
Gene Tree for MARC2 (if available)
TreeFam:
Gene Tree for MARC2 (if available)

Paralogs for MARC2 Gene

Paralogs for MARC2 Gene

(1) SIMAP similar genes for MARC2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MARC2 Gene

genes like me logo Genes that share paralogs with MARC2: view

Variants for MARC2 Gene

Sequence variations from dbSNP and Humsavar for MARC2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000093371 -- 220,756,913(+) ATTTA(-/T)TTTTT intron-variant
rs1000282621 -- 220,751,392(+) TCTCT(A/G)CTCTC intron-variant, utr-variant-5-prime
rs1000293942 -- 220,763,319(+) TGGAA(C/T)ATGTA intron-variant
rs1000364219 -- 220,751,584(+) GAGTT(C/T)CTGCT intron-variant
rs1000395389 -- 220,774,304(+) TACCC(A/G)AATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MARC2 Gene

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

Variation tolerance for MARC2 Gene

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

Relevant External Links for MARC2 Gene

Human Gene Mutation Database (HGMD)
MARC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARC2 Gene

Disorders for MARC2 Gene

Relevant External Links for MARC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MARC2

No disorders were found for MARC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MARC2 Gene

Publications for MARC2 Gene

  1. Functional characterization of protein variants encoded by non- synonymous SNPs in MARC1 and MARC2 in healthy Caucasians. (PMID: 24423752) Ott G. … Havemeyer A. (Drug Metab. Dispos. 2014) 3 4 64
  2. Reduction of N(omega)-hydroxy-L-arginine by the mitochondrial amidoxime reducing component (mARC). (PMID: 21029045) Kotthaus J. … Clement B. (Biochem. J. 2011) 3 4 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MARC2 Gene

Sources for MARC2 Gene

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