MARCO
protein-codingmacrophage receptor with collagenous structure, the group of Scavenger receptor cysteine rich domain containing|Scavenger receptors
Gene summary
The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~52.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MARCO variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_006770.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 4 | 1 | 6 | ||
| missense | 70 | 5 | 75 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 74 | 9 | 1 | 84 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_006761.1 | 17 | MANE Select | |
| Ensembl | ENSP00000318916.4 | 17 | MANE Select | |
| Ensembl | ENSP00000409192.1 | 1 | Standard | |
| Ensembl | ENSP00000544408.1 | 16 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Phagosome - Homo sapiens (human)
- Vesicle-mediated transport
- Binding and Uptake of Ligands by Scavenger Receptors
- Scavenging by Class A Receptors
Biological Process
- positive regulation of protein phosphorylation
- pattern recognition receptor signaling pathway
- endocytosis
- receptor-mediated endocytosis
- cell surface receptor signaling pathway
Molecular Function
- amyloid-beta binding
- G protein-coupled receptor binding
- transmembrane signaling receptor activity
- scavenger receptor activity
- signaling pattern recognition receptor activity
Cellular Component
- collagen trimer
- plasma membrane
- integral component of plasma membrane
- endocytic vesicle membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000327097
- Coding exons
- 17
- Length
- 52495
- Individuals with no LoFs
- 125649
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 99
- Defined
- 125748
- p
- 0.000394
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.178 | 305 | 296 | 1.03 | 0.0000162 | 3289 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00045 | 0.00043 | rare |
| Latino/Admixed American | 0.00023 | 0.00023 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.000048 | 0.000046 | rare |
| European (Non-Finnish) | 0.00058 | 0.00057 | rare |
| South Asian | 0.00034 | 0.00033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.247
Intolerance Scores
- LoFtool
- 0.267
- RVIS EVS
- -0.37
- RVIS percentile EVS
- 28.16
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.624
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |