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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]
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.
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 |
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Metabolism |
.40
|
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 | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MOSC2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MOSC2 30 |
|
||
MARC2 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | MARC2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Marc2 30 31 |
|
OneToOne | |
Mtarc2 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | LOC100910481 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MARC2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MARC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | marc1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | MARC2 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1665 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F56A11.5 31 |
|
ManyToMany | |
F22B8.7 31 |
|
ManyToMany | |||
F53E10.1 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G44720 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os09g0560800 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs3795535 | - |
p.Gly244Ser |
|||
rs72472370 | - |
p.Ala3Ser |
|||
rs76664695 | - |
p.Cys245Trp |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, familial adult myoclonic, 3 |
|
|
epilepsy, familial adult myoclonic, 2 |
|
|
ivic syndrome |
|
|
microphthalmia, syndromic 10 |
|
|
familial adult myoclonic epilepsy |
|
|