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.

• not_specified (60 variants)

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. These statistics are base on transcript: NM_001370523.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			58	2		60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	2	0

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