CLEC4G

C-type lectin domain family 4 member G, the group of C-type lectin domain containing

Basic information

Region (hg38): 19:7728957-7733906

Links

ENSG00000182566 ∙ NCBI:339390 ∙ OMIM:616256 ∙ HGNC:24591 ∙ Uniprot:Q6UXB4 ∙ 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 CLEC4G gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLEC4G 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in CLEC4G

This is a list of pathogenic ClinVar variants found in the CLEC4G region.

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

Position	Type	Phenotype	Significance	ClinVar
19-7729422-C-T		not specified	Uncertain significance (Feb 27, 2024)
19-7729887-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-7730060-C-A		not specified	Uncertain significance (Oct 05, 2023)
19-7730143-G-A		not specified	Uncertain significance (Jan 24, 2024)
19-7730817-A-G		not specified	Uncertain significance (May 27, 2022)
19-7731709-C-T		not specified	Uncertain significance (Dec 19, 2022)
19-7731760-G-A		not specified	Uncertain significance (Mar 06, 2023)
19-7732063-C-T		not specified	Uncertain significance (Oct 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLEC4G	protein_coding	protein_coding	ENST00000328853	9	4950

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000931	0.792	125712	0	28	125740	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.624	150	173	0.867	0.00000868	1868
Missense in Polyphen		42	53.008	0.79234		620
Synonymous	-0.349	81	77.1	1.05	0.00000437	574
Loss of Function	1.25	10	15.3	0.654	6.55e-7	167

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000614	0.000614
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000566	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds mannose, N-acetylglucosamine (GlcNAc) and fucose, but not galactose, in a Ca(2+)-dependent manner, in vitro. {ECO:0000269|PubMed:14711836}.; FUNCTION: (Microbial infection) Acts as a receptor for Ebolavirus. {ECO:0000269|PubMed:16051304}.; FUNCTION: (Microbial infection) Acts as a receptor for Lassa virus and Lymphocytic choriomeningitis virus glycoprotein (PubMed:22156524, PubMed:22673088). {ECO:0000269|PubMed:22156524, ECO:0000269|PubMed:22673088}.
• Pathway: Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.590
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.27

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.285

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.116

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Clec4g
• Phenotype: homeostasis/metabolism phenotype; immune system phenotype; liver/biliary system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: negative regulation of T cell mediated immunity;negative regulation of T cell proliferation;viral entry into host cell;regulation of immune response
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: virus receptor activity;protein binding;polysaccharide binding