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

    Gene ID: 27181, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51450997..51458454, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54539617..54547074, complement)
    RS_2024_09 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

    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. Siglec-8. A novel eosinophil-specific member of the immunoglobulin superfamily. Floyd H, et al. J Biol Chem, 2000 Jan 14. PMID 10625619
    3. Identification of SAF-2, a novel siglec expressed on eosinophils, mast cells, and basophils. Kikly KK, et al. J Allergy Clin Immunol, 2000 Jun. PMID 10856141
    4. Molecular characterization of a Siglec8 variant containing cytoplasmic tyrosine-based motifs, and mapping of the Siglec8 gene. Foussias G, et al. Biochem Biophys Res Commun, 2000 Nov 30. PMID 11095983
    5. Ligation of Siglec-8: a selective mechanism for induction of human eosinophil apoptosis. Nutku E, et al. Blood, 2003 Jun 15. PMID 12609831

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus.
      Title: Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus.
    2. 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.
    3. First Evidence for a Role of Siglec-8 in Breast Cancer.
      Title: First Evidence for a Role of Siglec-8 in Breast Cancer.
    4. 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.
    5. 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.
    6. 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.
    7. Targeting saporin to Siglec-8 consistently caused extensive cell death.
      Title: Leveraging Siglec-8 endocytic mechanisms to kill human eosinophils and malignant mast cells.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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