CLEC18B

C-type lectin domain family 18 member B, the group of CAP and C-type lectin domain containing|C-type lectin domain containing

Basic information

Region (hg38): 16:74408631-74421478

Previous symbols: [ "MRCL2" ]

Links

ENSG00000140839 ∙ NCBI:497190 ∙ OMIM:616572 ∙ HGNC:33849 ∙ Uniprot:Q6UXF7 ∙ 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 CLEC18B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLEC18B 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		2
missense			31	5		36
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	7	0

Variants in CLEC18B

This is a list of pathogenic ClinVar variants found in the CLEC18B region.

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

Position	Type	Phenotype	Significance	ClinVar
16-74409019-C-T		not specified	Likely benign (May 09, 2023)
16-74409026-G-A		not specified	Likely benign (Oct 05, 2021)
16-74409040-T-C		not specified	Uncertain significance (Mar 06, 2023)
16-74409568-G-A		not specified	Uncertain significance (Jun 26, 2024)
16-74409591-T-G		not specified	Uncertain significance (Jun 29, 2023)
16-74410994-A-G		not specified	Uncertain significance (Nov 06, 2023)
16-74411022-C-A		not specified	Uncertain significance (Feb 16, 2023)
16-74411735-G-A			Likely benign (Sep 01, 2024)
16-74412178-C-T		not specified	Uncertain significance (Sep 07, 2022)
16-74412190-C-T		not specified	Uncertain significance (Oct 06, 2024)
16-74412210-C-T		not specified	Uncertain significance (Jul 13, 2021)
16-74412242-C-G		not specified	Uncertain significance (Jul 10, 2024)
16-74412787-C-T		not specified	Uncertain significance (Sep 27, 2024)
16-74412790-G-A		not specified	Uncertain significance (Jan 07, 2025)
16-74412841-T-C		not specified	Uncertain significance (Dec 15, 2023)
16-74413093-C-T		not specified	Uncertain significance (Sep 17, 2021)
16-74413108-G-A		not specified	Uncertain significance (Oct 03, 2024)
16-74413120-T-C		not specified	Uncertain significance (Oct 14, 2021)
16-74413658-T-C		not specified	Uncertain significance (Sep 15, 2021)
16-74418076-A-G		not specified	Uncertain significance (May 31, 2022)
16-74418085-T-G		not specified	Uncertain significance (Jul 30, 2023)
16-74418094-A-G		not specified	Uncertain significance (Jul 19, 2022)
16-74418105-G-A		not specified	Uncertain significance (Sep 25, 2023)
16-74418106-C-T		not specified	Uncertain significance (Feb 23, 2023)
16-74418117-C-T		not specified	Likely benign (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLEC18B	protein_coding	protein_coding	ENST00000339953	13	12840

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000124	0.829	125308	0	292	125600	0.00116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.522	177	198	0.895	0.0000115	2794
Missense in Polyphen		57	66.937	0.85155		1061
Synonymous	1.35	62	77.0	0.805	0.00000487	802
Loss of Function	1.42	12	18.6	0.645	8.01e-7	265

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00807	0.00805
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00483	0.00482
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.0000544	0.0000544
South Asian	0.000392	0.000392
Other	0.000980	0.000979

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds polysaccharides in a Ca(2+)-independent manner (By similarity). {ECO:0000250|UniProtKB:A5D8T8}.

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.158

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Clec18a

Gene ontology

• Cellular component: extracellular space;endosome;Golgi apparatus;sarcoplasmic reticulum
• Molecular function: polysaccharide binding