MARCO

macrophage receptor with collagenous structure, the group of Scavenger receptor cysteine rich domain containing|Scavenger receptors

Basic information

Region (hg38): 2:118942194-118994660

Links

ENSG00000019169 ∙ NCBI:8685 ∙ OMIM:604870 ∙ HGNC:6895 ∙ Uniprot:Q9UEW3 ∙ 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 MARCO gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARCO 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				4	1	5
missense			31	4		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	8	1

Variants in MARCO

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

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

Position	Type	Phenotype	Significance	ClinVar
2-118942319-C-A		not specified	Uncertain significance (Feb 10, 2022)
2-118942325-G-A		not specified	Uncertain significance (Jan 09, 2024)
2-118942330-C-T			Likely benign (May 24, 2018)
2-118942395-A-G		not specified	Likely benign (Oct 03, 2022)
2-118969176-G-T		not specified	Uncertain significance (Jan 04, 2022)
2-118969204-G-A		not specified	Uncertain significance (Aug 17, 2022)
2-118969234-G-A		not specified	Uncertain significance (Jan 04, 2024)
2-118970116-C-G		not specified	Uncertain significance (Jan 30, 2024)
2-118970174-C-T		not specified	Uncertain significance (May 27, 2022)
2-118970242-G-A		not specified	Uncertain significance (Dec 14, 2023)
2-118970278-T-C		not specified	Uncertain significance (Oct 06, 2022)
2-118970331-G-A			Likely benign (Mar 29, 2018)
2-118971499-G-A		not specified	Likely benign (Sep 06, 2022)
2-118971523-A-C		not specified	Uncertain significance (Apr 08, 2024)
2-118971528-G-A		not specified	Uncertain significance (Jan 26, 2023)
2-118974336-T-A		not specified	Uncertain significance (Apr 12, 2022)
2-118974364-G-A		not specified	Uncertain significance (Dec 16, 2022)
2-118974367-T-A			Likely benign (Mar 01, 2024)
2-118974372-C-G		not specified	Uncertain significance (May 29, 2024)
2-118974381-C-G		not specified	Uncertain significance (Nov 12, 2021)
2-118974381-C-T		not specified	Likely benign (Aug 22, 2023)
2-118974384-C-T		not specified	Uncertain significance (Sep 17, 2021)
2-118974426-G-A		not specified	Uncertain significance (Oct 13, 2023)
2-118974560-A-T		not specified	Uncertain significance (Jul 25, 2023)
2-118977507-G-A		not specified	Uncertain significance (Jun 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MARCO	protein_coding	protein_coding	ENST00000327097	17	52495

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.77e-21	0.00187	125649	0	99	125748	0.000394

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.178	305	296	1.03	0.0000162	3289
Missense in Polyphen		72	69.857	1.0307		782
Synonymous	-1.06	129	115	1.13	0.00000697	1054
Loss of Function	0.0375	31	31.2	0.993	0.00000160	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000679	0.000665
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000382	0.000381
Finnish	0.0000476	0.0000462
European (Non-Finnish)	0.000578	0.000571
Middle Eastern	0.000382	0.000381
South Asian	0.000337	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Pattern recognition receptor (PRR) which binds Gram- positive and Gram-negative bacteria (PubMed:9468508). Also plays a role in binding of unopsonized particles by alveolar macrophages (By similarity). Binds to the secretoglobin SCGB3A2 (PubMed:12847263). {ECO:0000250|UniProtKB:Q9WUB9, ECO:0000269|PubMed:12847263, ECO:0000269|PubMed:9468508}.
• Pathway: Phagosome - Homo sapiens (human);Vesicle-mediated transport;Binding and Uptake of Ligands by Scavenger Receptors;Scavenging by Class A Receptors (Consensus)

Recessive Scores

• pRec: 0.247

Intolerance Scores

• loftool: 0.267
• rvis_EVS: -0.37
• rvis_percentile_EVS: 28.16

Haploinsufficiency Scores

• pHI: 0.0640
• hipred: N
• hipred_score: 0.145
• ghis: 0.389

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.624

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Marco
• Phenotype: cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype

Gene ontology

• Biological process: positive regulation of protein phosphorylation;pattern recognition receptor signaling pathway;endocytosis;receptor-mediated endocytosis;cell surface receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;apoptotic cell clearance;innate immune response;positive regulation of ERK1 and ERK2 cascade;amyloid-beta clearance
• Cellular component: collagen trimer;plasma membrane;integral component of plasma membrane;endocytic vesicle membrane
• Molecular function: amyloid-beta binding;G protein-coupled receptor binding;transmembrane signaling receptor activity;scavenger receptor activity;signaling pattern recognition receptor activity