MRC1

mannose receptor C-type 1, the group of CD molecules|Scavenger receptors|MicroRNA protein coding host genes|C-type lectin domain containing

Basic information

Region (hg38): 10:17809348-17911164

Previous symbols: [ "MRC1L1" ]

Links

ENSG00000260314

∙ NCBI:4360 ∙ OMIM:153618 ∙ HGNC:7228 ∙ Uniprot:P22897 ∙ 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 MRC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRC1 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				2 clinvar		2
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in MRC1

This is a list of pathogenic ClinVar variants found in the MRC1 region.

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

Position	Phenotype	Significance	ClinVar
10-17833781-A-G		Likely benign (Dec 01, 2022)	2640335
10-17849625-C-T		Likely benign (Dec 01, 2022)	2640337
10-17849701-G-A	Susceptibility to leprosy and multibacillary leprosy • Leprosy, susceptibility to, 1	Uncertain risk allele; risk factor (Jun 10, 2022)	64687

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Mediates the endocytosis of glycoproteins by macrophages. Binds both sulfated and non-sulfated polysaccharide chains.; FUNCTION: (Microbial infection) Acts as a receptor for Dengue virus envelope protein E. {ECO:0000269|PubMed:18266465}.;
Pathway: Phagosome - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Immune System;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Cross-presentation of soluble exogenous antigens (endosomes) (Consensus)

Recessive Scores

pRec: 0.210

Haploinsufficiency Scores

pHI: 0.198
hipred: N
hipred_score: 0.431
ghis: 0.394

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.262

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mrc1
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); reproductive system phenotype; immune system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: receptor-mediated endocytosis;viral entry into host cell;cellular response to lipopolysaccharide;cellular response to interferon-gamma;cellular response to interleukin-4
Cellular component: plasma membrane;integral component of plasma membrane;cell surface;endosome membrane
Molecular function: virus receptor activity;transmembrane signaling receptor activity;protein binding;mannose binding;cargo receptor activity