CLEC18C

protein-coding

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

Gene summary

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

Previous symbols:

MRCL3

MANE transcript

NM_173619.4

Inheritance

—

ClinVar variants

U:37B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr16:70,173,322-70,187,361

External References & Databases

Ensembl (ENSG00000157335)

Transcript & Mutation Effects

hg38 • Region Span ~14.0 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 CLEC18C variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 42

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173619.4. 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						0
missense			37 clinvar	5 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	5	0	42

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173619.4	RefSeq	NP_775890.2	12	MANE Select
ENST00000541793.7	Ensembl	ENSP00000444875.2	12	MANE Select
ENST00000314151.12	Ensembl	ENSP00000326538.8	12	Standard
ENST00000314151.13	Ensembl	ENSP00000326538.8	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

polysaccharide binding

Cellular Component

extracellular space
endosome
endoplasmic reticulum
Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000569347
Coding exons: 12
Length: 14040
Individuals with no LoFs: 124907
Homozygous LoFs: 0
Heterozygous LoFs: 40
Defined: 124947
p: 0.000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.323	80	88.6	0.903	0.00000573	2866
Missense (PolyPhen)		26	28.538	0.91108		1177
Synonymous	0.195	34	35.5	0.958	0.00000208	846
Loss of Function	0.472	5	6.28	0.797	2.70e-7	273

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00022	0.00019	rare
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000054	0.000053	rare
South Asian	0.0011	0.00095	notable
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Essentials

Essential (CRISPR): E
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.110

Gene Damage Prediction

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