CLEC18C

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

Basic information

Region (hg38): 16:70173322-70187361

Previous symbols: [ "MRCL3" ]

Links

ENSG00000157335 ∙ NCBI:283971 ∙ OMIM:616573 ∙ HGNC:28538 ∙ Uniprot:Q8NCF0 ∙ 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 CLEC18C gene.

• not_specified (37 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLEC18C gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173619.4. 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			33	4		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLEC18C	protein_coding	protein_coding	ENST00000569347	12	14040

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000899	0.585	124907	0	40	124947	0.000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.323	80	88.6	0.903	0.00000573	2866
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000284	0.000254
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000537	0.0000529
Middle Eastern	0.00	0.00
South Asian	0.00106	0.000948
Other	0.00	0.00

dbNSFP

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}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.431
• ghis: 0.468

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.110

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;endoplasmic reticulum;Golgi apparatus
• Molecular function: polysaccharide binding