GeneBe

SIGLEC8

sialic acid binding Ig like lectin 8, the group of V-set domain containing|Sialic acid binding Ig like lectins

Basic information

Region (hg38): 19:51450847-51458456

Links

ENSG00000105366 ∙ NCBI:27181 ∙ OMIM:605639 ∙ HGNC:10877 ∙ Uniprot:Q9NYZ4 ∙ 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 SIGLEC8 gene.

  • not_specified (78 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SIGLEC8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014442.3. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
74
clinvar
4
clinvar
1
clinvar
 79
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 74 4 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SIGLEC8protein_codingprotein_codingENST00000321424 77610
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.22e-70.78712562101251257460.000497
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.08242742780.9860.00001513168
Missense in Polyphen6466.5060.96232840
Synonymous0.4791161230.9450.000007031079
Loss of Function1.371319.50.6650.00000104200

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008250.000825
Ashkenazi Jewish0.007440.00747
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0002030.000202
Middle Eastern0.00005440.0000544
South Asian0.0002300.000229
Other0.0006550.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Putative adhesion molecule that mediates sialic-acid dependent binding to red blood cells (PubMed:10856141, PubMed:10625619). Preferentially binds to alpha-2,3-linked sialic acid. Also binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface (PubMed:10625619). Recognizes simultaneously epitopes having a terminal N-acetylneuraminic acid (sialic acid) and an underlying 6-O-sulfated galactose. Preferentially binds to Gal-6-sulfated sialyl-Lewis X glycan epitopes (PubMed:27357658). {ECO:0000269|PubMed:10625619, ECO:0000269|PubMed:10856141, ECO:0000269|PubMed:27357658}.;
Pathway
Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Intolerance Scores

loftool
0.825
rvis_EVS
0.6
rvis_percentile_EVS
82.83

Haploinsufficiency Scores

pHI
0.208
hipred
N
hipred_score
0.158
ghis
0.459

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0733

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Gene ontology

Biological process
cell adhesion;signal transduction
Cellular component
integral component of membrane
Molecular function
transmembrane signaling receptor activity;protein binding;carbohydrate binding