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    SIGLEC12 sialic acid binding Ig like lectin 12 [ Homo sapiens (human) ]

    Gene ID: 89858, updated on 27-Nov-2024

    Summary

    Official Symbol
    SIGLEC12provided by HGNC
    Official Full Name
    sialic acid binding Ig like lectin 12provided by HGNC
    Primary source
    HGNC:HGNC:15482
    See related
    Ensembl:ENSG00000254521 MIM:606094; AllianceGenome:HGNC:15482
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S2V; SLG; SIGLECL1; Siglec-XII
    Summary
    Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Biased expression in spleen (RPKM 5.4), appendix (RPKM 3.1) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SIGLEC12 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51491227..51501800, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54579849..54590427, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51994481..52005054, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes 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 Neighboring gene CEA cell adhesion molecule 18 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51990573-51990732 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51991976-51992156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:52002817-52003316 Neighboring gene sialic acid binding Ig like lectin 27, pseudogene Neighboring gene sialic acid binding Ig like lectin 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ38600

    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
     
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    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 12
    Names
    SIGLEC-like 1
    sialic acid-binding Ig-like lectin-like 1

    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_001412258.1NP_001399187.1  sialic acid-binding Ig-like lectin 12 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses the same exon combination as variant 1 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (c) has a shorter and frameshifted N-terminus compared to isoform a.
      Source sequence(s)
      CP068259
    2. NM_033329.2NP_201586.1  sialic acid-binding Ig-like lectin 12 isoform b precursor

      See identical proteins and their annotated locations for NP_201586.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as SLG-Short (SLG-S), differs in the 5' UTR and uses an alternate segment in the 5' coding region compared to variant 1, resulting in the use of an alternate in-frame translation initiation codon. It encodes an isoform (b) with a different and shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC020914
      Consensus CDS
      CCDS59416.1
      UniProtKB/Swiss-Prot
      Q96PQ1
      Related
      ENSP00000472873.1, ENST00000598614.1
      Conserved Domains (2) summary
      smart00410
      Location:271344
      IG_like; Immunoglobulin like
      cl11960
      Location:33151
      Ig; Immunoglobulin domain
    3. NM_053003.4NP_443729.1  sialic acid-binding Ig-like lectin 12 isoform a precursor

      See identical proteins and their annotated locations for NP_443729.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as SLG-Long (SLG-L), encodes the longest isoform (a). Unlike other members of the SIGLEC3-like subfamily, which contain only one V-set immunoglobin-like domain, isoform a contains two. This variant uses the same exon combination as variant 3 but represents the allele encoded by the GRCh38 reference genome.
      Source sequence(s)
      AC020914, AY358140, BC035809, DA562082
      Consensus CDS
      CCDS12833.1
      UniProtKB/Swiss-Prot
      Q8IYH7, Q96PQ1
      Related
      ENSP00000291707.3, ENST00000291707.8
      Conserved Domains (2) summary
      smart00410
      Location:389462
      IG_like; Immunoglobulin like
      cl11960
      Location:24142
      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
      51491227..51501800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      54579849..54590427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)