MTARC2

mitochondrial amidoxime reducing component 2

Basic information

Region (hg38): 1:220748224-220784815

Previous symbols: [ "MOSC2", "MARC2" ]

Links

ENSG00000117791 ∙ NCBI:54996 ∙ OMIM:614127 ∙ HGNC:26064 ∙ Uniprot:Q969Z3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MTARC2 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTARC2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1	1		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	1	0

Variants in MTARC2

This is a list of pathogenic ClinVar variants found in the MTARC2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-220748581-G-A		not specified	Likely benign (Sep 19, 2022)
1-220748625-G-A		not specified	Uncertain significance (Oct 10, 2023)
1-220748628-G-A		not specified	Uncertain significance (Jun 01, 2022)
1-220748772-A-G		not specified	Uncertain significance (Nov 05, 2021)
1-220748787-G-A		not specified	Uncertain significance (Jan 02, 2024)
1-220755008-G-A		not specified	Uncertain significance (Aug 12, 2021)
1-220761679-A-T		not specified	Uncertain significance (Nov 14, 2023)
1-220761680-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-220761696-A-C		not specified	Uncertain significance (Feb 05, 2024)
1-220761774-G-C		not specified	Uncertain significance (May 09, 2023)
1-220761794-C-T		not specified	Likely benign (Aug 02, 2021)
1-220763021-G-T		not specified	Uncertain significance (Aug 02, 2021)
1-220780046-G-C		not specified	Uncertain significance (Dec 15, 2022)
1-220780182-C-T		not specified	Uncertain significance (Jan 24, 2024)
1-220781804-G-A		not specified	Likely benign (Jun 01, 2023)
1-220781893-A-C		not specified	Uncertain significance (Jun 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTARC2	protein_coding	protein_coding	ENST00000366913	7	36584

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000219	0.921	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.431	150	166	0.906	0.00000804	2143
Missense in Polyphen		63	71.282	0.88381		876
Synonymous	-0.0662	65	64.3	1.01	0.00000313	663
Loss of Function	1.59	8	14.5	0.551	6.92e-7	186

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000338	0.000337
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000134	0.000123
Middle Eastern	0.00	0.00
South Asian	0.000334	0.000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000269|PubMed:21029045}.
• Pathway: Phase I - Functionalization of compounds;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.132
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Marc2
• Phenotype: growth/size/body region phenotype

Gene ontology

• Biological process: nitrate metabolic process;detoxification of nitrogen compound;oxidation-reduction process
• Cellular component: mitochondrion;mitochondrial outer membrane;peroxisome
• Molecular function: nitrate reductase activity;molybdenum ion binding;pyridoxal phosphate binding;molybdopterin cofactor binding