ASGR2

asialoglycoprotein receptor 2, the group of C-type lectin domain containing

Basic information

Region (hg38): 17:7101322-7115700

Links

ENSG00000161944

∙ NCBI:433 ∙ OMIM:108361 ∙ HGNC:743 ∙ Uniprot:P07307 ∙ 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 ASGR2 gene.

not_specified (43 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASGR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001201352.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			39 clinvar	3 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	3	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASGR2	protein_coding	protein_coding	ENST00000380952	8	14379

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.81e-10	0.0905	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.285	176	187	0.941	0.0000109	2065
Missense in Polyphen		59	65.192	0.90502		810
Synonymous	0.228	75	77.5	0.967	0.00000500	571
Loss of Function	0.0601	14	14.2	0.983	6.09e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000323	0.000309
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000217	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000217	0.000217
South Asian	0.000171	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.;
Pathway: Thyroid hormone synthesis - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;Asparagine N-linked glycosylation (Consensus)

Intolerance Scores

loftool: 0.835
rvis_EVS: -0.36
rvis_percentile_EVS: 29.16

Haploinsufficiency Scores

pHI: 0.185
hipred: N
hipred_score: 0.139
ghis: 0.545

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.572

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Asgr2
Phenotype: homeostasis/metabolism 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: receptor-mediated endocytosis;cell surface receptor signaling pathway;viral process;protein N-linked glycosylation via asparagine;bone mineralization;regulation of protein stability;lipid homeostasis
Cellular component: plasma membrane;integral component of membrane;endoplasmic reticulum quality control compartment;perinuclear region of cytoplasm
Molecular function: asialoglycoprotein receptor activity;protein binding;carbohydrate binding