CLEC18A

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

Basic information

Region (hg38): 16:69950705-69964452

Previous symbols: [ "MRCL" ]

Links

ENSG00000157322 ∙ NCBI:348174 ∙ OMIM:616571 ∙ HGNC:30388 ∙ Uniprot:A5D8T8 ∙ 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 CLEC18A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLEC18A 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			36	4		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	4	0

Variants in CLEC18A

This is a list of pathogenic ClinVar variants found in the CLEC18A region.

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

Position	Type	Phenotype	Significance	ClinVar
16-69951400-C-T		not specified	Uncertain significance (Oct 05, 2023)
16-69951407-T-C		not specified	Uncertain significance (Mar 27, 2023)
16-69951415-C-T		not specified	Uncertain significance (Feb 16, 2023)
16-69951416-T-A		not specified	Uncertain significance (Sep 21, 2023)
16-69951421-G-T		not specified	Uncertain significance (Jan 10, 2025)
16-69951422-C-T		not specified	Uncertain significance (Jan 10, 2025)
16-69951437-C-T		not specified	Uncertain significance (Dec 19, 2023)
16-69951447-G-C		not specified	Uncertain significance (Jan 08, 2024)
16-69951452-G-T		not specified	Uncertain significance (Feb 28, 2023)
16-69951463-C-A		not specified	Uncertain significance (Feb 27, 2024)
16-69951476-C-T		not specified	Uncertain significance (Nov 08, 2021)
16-69951487-G-A		not specified	Likely benign (May 18, 2023)
16-69952050-A-G		not specified	Uncertain significance (Nov 17, 2022)
16-69952080-G-A		not specified	Uncertain significance (Jul 20, 2021)
16-69952080-G-T		not specified	Uncertain significance (Oct 26, 2021)
16-69952086-G-A		not specified	Uncertain significance (Nov 14, 2023)
16-69952103-C-T		not specified	Uncertain significance (Jan 03, 2025)
16-69952107-C-T		not specified	Uncertain significance (Oct 04, 2024)
16-69952117-G-A		not specified	Uncertain significance (Feb 28, 2025)
16-69952123-G-T		not specified	Uncertain significance (Nov 07, 2023)
16-69954334-G-T		not specified	Uncertain significance (Apr 20, 2024)
16-69954374-C-A		not specified	Uncertain significance (Feb 08, 2025)
16-69954383-G-A		not specified	Uncertain significance (Feb 24, 2025)
16-69954392-C-T		not specified	Uncertain significance (Oct 24, 2024)
16-69954398-C-T		not specified	Uncertain significance (Oct 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLEC18A	protein_coding	protein_coding	ENST00000288040	12	13332

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00770	0.794	124695	3	15	124713	0.0000722

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.190	74	78.7	0.940	0.00000493	2868
Missense in Polyphen		17	22.253	0.76393		1181
Synonymous	-0.565	36	31.9	1.13	0.00000213	837
Loss of Function	0.992	4	6.79	0.589	2.92e-7	272

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000127	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000151	0.000116
Middle Eastern	0.00	0.00
South Asian	0.000102	0.0000654
Other	0.000181	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds polysaccharides in a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans (PubMed:26170455). {ECO:0000269|PubMed:26170455}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.146

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Clec18a

Gene ontology

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