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SIGLEC8 sialic acid binding Ig like lectin 8 [ Homo sapiens (human) ]

Gene ID: 27181, updated on 5-Mar-2024

Summary

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Official Symbol
SIGLEC8provided by HGNC
Official Full Name
sialic acid binding Ig like lectin 8provided by HGNC
Primary source
HGNC:HGNC:10877
See related
Ensembl:ENSG00000105366 MIM:605639; AllianceGenome:HGNC:10877
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAF2; SIGLEC-8; SIGLEC8L
Summary
Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]
Expression
Broad expression in lymph node (RPKM 2.6), spleen (RPKM 2.6) and 14 other tissues See more
Orthologs
all
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Genomic context

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See SIGLEC8 in Genome Data Viewer
Location:
19q13.41
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51450997..51458454, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54539617..54547074, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51954251..51961708, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NIFK pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51912204-51912704 Neighboring gene sialic acid binding Ig like lectin 10 Neighboring gene SIGLEC10 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15018 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51941886-51942056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51966471-51967219 Neighboring gene sialic acid binding Ig like lectin 25, pseudogene Neighboring gene sialic acid binding Ig like lectin 26, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Induction of the endogenous sialoglycan ligand for eosinophil death receptor Siglec-8 in chronic rhinosinusitis with hyperplastic nasal polyposis. Lee HS, et al. Glycobiology, 2021 Sep 9. PMID 33755113, Free PMC Article
  2. First Evidence for a Role of Siglec-8 in Breast Cancer. Trebo A, et al. Int J Mol Sci, 2021 Feb 18. PMID 33670444, Free PMC Article
  3. Promoter region single nucleotide polymorphism of siglec-8 gene associates with susceptibility to allergic asthma. Sajay-Asbaghi M, et al. Per Med, 2020 May 1. PMID 32077788
  4. Sialic acid-binding immunoglobulin-like lectin (Siglec) 8 in patients with eosinophilic disorders: Receptor expression and targeting using chimeric antibodies. Legrand F, et al. J Allergy Clin Immunol, 2019 Jun. PMID 30543818, Free PMC Article
  5. Sialic acid-binding immunoglobulin-like lectin 8 (Siglec-8) is an activating receptor mediating β(2)-integrin-dependent function in human eosinophils. Carroll DJ, et al. J Allergy Clin Immunol, 2018 Jun. PMID 28888781, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Induction of the endogenous sialoglycan ligand for eosinophil death receptor Siglec-8 in chronic rhinosinusitis with hyperplastic nasal polyposis.
    Title: Induction of the endogenous sialoglycan ligand for eosinophil death receptor Siglec-8 in chronic rhinosinusitis with hyperplastic nasal polyposis.
  2. First Evidence for a Role of Siglec-8 in Breast Cancer.
    Title: First Evidence for a Role of Siglec-8 in Breast Cancer.
  3. Promoter region single nucleotide polymorphism of siglec-8 gene associates with susceptibility to allergic asthma.
    Title: Promoter region single nucleotide polymorphism of siglec-8 gene associates with susceptibility to allergic asthma.
  4. Siglec-8 is highly expressed on blood eosinophils from eosinophilic donors and normal donors and represents a potential therapeutic target for eosinophilic disorders
    Title: Sialic acid-binding immunoglobulin-like lectin (Siglec) 8 in patients with eosinophilic disorders: Receptor expression and targeting using chimeric antibodies.
  5. These data demonstrate that Siglec-8 functions uniquely as an activating receptor on IL-5-primed eosinophils through a novel pathway involving regulation of beta2-integrin-dependent adhesion, NADPH oxidase, and a subset of protein kinases
    Title: Sialic acid-binding immunoglobulin-like lectin 8 (Siglec-8) is an activating receptor mediating β(2)-integrin-dependent function in human eosinophils.
  6. Targeting saporin to Siglec-8 consistently caused extensive cell death.
    Title: Leveraging Siglec-8 endocytic mechanisms to kill human eosinophils and malignant mast cells.
  7. In differentiating ,eosinophils, SIGLEC-8 messenger RNA and protein were markedly down-regulated in parallel with OLIG2 by an OLIG2 small interfering RNA or a short hairpin RNA. An E-box in the first intron was found to stimulate SIGLEC-8 gene transcription and to bind OLIG2.
    Title: Olig2 is expressed late in human eosinophil development and controls Siglec-8 expression.
  8. miR-215 acts in concert with the host gene IARS2 to affect neuron migration and proliferation through the target gene SIGLEC-8.
    Title: Role of MiR-215 in Hirschsprung's Disease Pathogenesis by Targeting SIGLEC-8.
  9. Our study suggested that intratumoral Siglec-8 expression was an independent prognostic factor for overall survival of patients with gastric cancer
    Title: Decreased expression of Siglec-8 associates with poor prognosis in patients with gastric cancer after surgical resection.
  10. Ligands for Siglec-8 and Siglec-9 may regulate the function of eosinophils, mast cells, neutrophils, and other cells in sinus mucosa.
    Title: Regulation of airway inflammation by Siglec-8 and Siglec-9 sialoglycan ligand expression.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC59785

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sialic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
sialic acid-binding Ig-like lectin 8
Names
CDw329
SAF-2
sialoadhesin family member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001363548.1 → NP_001350477.1  sialic acid-binding Ig-like lectin 8 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AF195092, BC053319, BP309940, DA388103
    Consensus CDS
    CCDS86797.1
    UniProtKB/TrEMBL
    C9JT30
    Related
    ENSP00000339448.4, ENST00000340550.5
    Conserved Domains (2) summary
    smart00410
    Location:176 → 251
    IG_like; Immunoglobulin like
    cl11960
    Location:27 → 151
    Ig; Immunoglobulin domain

  2. NM_014442.3 → NP_055257.2  sialic acid-binding Ig-like lectin 8 isoform 1 precursor

    See identical proteins and their annotated locations for NP_055257.2

    Status: VALIDATED

    Source sequence(s)
    AF195092, BC053319, DA388103
    Consensus CDS
    CCDS33086.1
    UniProtKB/Swiss-Prot
    Q7Z728, Q9NYZ4
    Related
    ENSP00000321077.2, ENST00000321424.7
    Conserved Domains (3) summary
    smart00408
    Location:275 → 335
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:269 → 344
    IG_like; Immunoglobulin like
    cl11960
    Location:27 → 151
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    51450997..51458454 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526734.3 → XP_011525036.1  sialic acid-binding Ig-like lectin 8 isoform X1

    Conserved Domains (3) summary
    smart00408
    Location:264 → 324
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:258 → 333
    IG_like; Immunoglobulin like
    cl11960
    Location:27 → 151
    Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    54539617..54547074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320571.1 → XP_054176546.1  sialic acid-binding Ig-like lectin 8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYZ4.2 GenPept UniProtKB/Swiss-Prot:Q9NYZ4

Gene LinkOut

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