SIGLEC16

sialic acid binding Ig like lectin 16, the group of I-set domain containing|V-set domain containing|C2-set domain containing|Sialic acid binding Ig like lectins

Basic information

Region (hg38): 19:49969599-49975819

Previous symbols: [ "SIGLECP16" ]

Links

ENSG00000161643 ∙ NCBI:400709 ∙ ∙ HGNC:24851 ∙ Uniprot:A6NMB1 ∙ 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 SIGLEC16 gene.

• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SIGLEC16 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				1		1
missense				4		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding						0
Total	0	0	0	6	0

Variants in SIGLEC16

This is a list of pathogenic ClinVar variants found in the SIGLEC16 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49970317-C-T			Likely benign (Feb 01, 2023)
19-49970473-G-A			Likely benign (Mar 01, 2023)
19-49970510-G-A			Likely benign (Mar 01, 2022)
19-49971150-C-T			Likely benign (Oct 01, 2022)
19-49971215-G-A			Likely benign (Mar 01, 2023)
19-49971273-A-C			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative adhesion molecule that mediates sialic-acid dependent binding to cells. {ECO:0000250}.
• Pathway: DAP12 interactions;Innate Immune System;Immune System (Consensus)

Haploinsufficiency Scores

• pHI: 0.0549

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene ontology

• Biological process: positive regulation of interleukin-6 production;innate immune response;multi organism cell adhesion;positive regulation of defense response to bacterium
• Cellular component: plasma membrane;spanning component of membrane
• Molecular function: protein binding;carbohydrate binding