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

    Gene ID: 27181, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001363548.1NP_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:176251
      IG_like; Immunoglobulin like
      cl11960
      Location:27151
      Ig; Immunoglobulin domain
    2. NM_014442.3NP_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:275335
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:269344
      IG_like; Immunoglobulin like
      cl11960
      Location:27151
      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_011526734.3XP_011525036.1  sialic acid-binding Ig-like lectin 8 isoform X1

      Conserved Domains (3) summary
      smart00408
      Location:264324
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:258333
      IG_like; Immunoglobulin like
      cl11960
      Location:27151
      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_054320571.1XP_054176546.1  sialic acid-binding Ig-like lectin 8 isoform X1