CLEC18B

protein-coding

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

Gene summary

Predicted to enable polysaccharide binding activity. Predicted to be located in Golgi apparatus; endosome; and sarcoplasmic reticulum. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

MRCL2

MANE transcript

NM_001385193.1

Inheritance

—

ClinVar variants

U:59B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr16:74,408,631-74,421,478

External References & Databases

Ensembl (ENSG00000140839)

Transcript & Mutation Effects

hg38 • Region Span ~12.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CLEC18B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001385193.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			58 clinvar	9 clinvar		67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	59	11	0	70

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001385193.1	RefSeq	NP_001372122.1	12	MANE Select
ENST00000682950.1	Ensembl	ENSP00000507367.1	12	MANE Select
NM_001011880.3	RefSeq	NP_001011880.2	13	Standard
NM_001385192.1	RefSeq	NP_001372121.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

polysaccharide binding

Cellular Component

extracellular space
endosome
Golgi apparatus
sarcoplasmic reticulum

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000339953
Coding exons: 13
Length: 12840
Individuals with no LoFs: 125308
Homozygous LoFs: 0
Heterozygous LoFs: 292
Defined: 125600
p: 0.00116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.522	177	198	0.895	0.0000115	2794
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0074	0.0073	notable
Latino/Admixed American	0.00070	0.00069	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.000054	0.000054	rare
Finnish	0.0048	0.0048	notable
European (Non-Finnish)	0.00022	0.00022	rare
South Asian	0.00039	0.00039	rare
Other	0.00098	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.158

Gene Damage Prediction

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