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Aliases for SIGLEC12 Gene

Aliases for SIGLEC12 Gene

  • Sialic Acid Binding Ig-Like Lectin 12 (Gene/Pseudogene) 2 3
  • Sialic Acid-Binding Ig-Like Lectin-Like 1 3 4
  • SIGLEC-Like 1 2 3
  • SIGLECL1 3 4
  • SLG 3 4
  • Sialic Acid Binding Ig-Like Lectin 12 2
  • Siglec-XII 3
  • Siglec-12 4
  • Siglec-L1 4
  • S2V 3

External Ids for SIGLEC12 Gene

Previous HGNC Symbols for SIGLEC12 Gene

  • SIGLECL1

Previous GeneCards Identifiers for SIGLEC12 Gene

  • GC19M056687
  • GC19M051913
  • GC19M051994

Summaries for SIGLEC12 Gene

Entrez Gene Summary for SIGLEC12 Gene

  • 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]

GeneCards Summary for SIGLEC12 Gene

SIGLEC12 (Sialic Acid Binding Ig-Like Lectin 12 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with SIGLEC12 include non-invasive bladder papillary urothelial neoplasm and mucocele of salivary gland. Among its related pathways are Immune System and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is ENSG00000268500.

UniProtKB/Swiss-Prot for SIGLEC12 Gene

  • Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface

Gene Wiki entry for SIGLEC12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIGLEC12 Gene

Genomics for SIGLEC12 Gene

Regulatory Elements for SIGLEC12 Gene

Genomic Location for SIGLEC12 Gene

Chromosome:
19
Start:
51,491,227 bp from pter
End:
51,501,789 bp from pter
Size:
10,563 bases
Orientation:
Minus strand

Genomic View for SIGLEC12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SIGLEC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIGLEC12 Gene

Proteins for SIGLEC12 Gene

  • Protein details for SIGLEC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PQ1-SIG12_HUMAN
    Recommended name:
    Sialic acid-binding Ig-like lectin 12
    Protein Accession:
    Q96PQ1
    Secondary Accessions:
    • Q8IYH7

    Protein attributes for SIGLEC12 Gene

    Size:
    595 amino acids
    Molecular mass:
    64984 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SIGLEC12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIGLEC12 Gene

Proteomics data for SIGLEC12 Gene at MOPED

Post-translational modifications for SIGLEC12 Gene

  • Glycosylation at Asn 140, Asn 179, Asn 230, Asn 290, Asn 360, Asn 367, and Asn 385
  • Modification sites at PhosphoSitePlus

Other Protein References for SIGLEC12 Gene

Antibody Products

No data available for DME Specific Peptides for SIGLEC12 Gene

Domains & Families for SIGLEC12 Gene

Protein Domains for SIGLEC12 Gene

Suggested Antigen Peptide Sequences for SIGLEC12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PQ1

UniProtKB/Swiss-Prot:

SIG12_HUMAN :
  • Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Domain:
  • Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 2 Ig-like V-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
genes like me logo Genes that share domains with SIGLEC12: view

Function for SIGLEC12 Gene

Molecular function for SIGLEC12 Gene

UniProtKB/Swiss-Prot Function:
Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface

Gene Ontology (GO) - Molecular Function for SIGLEC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with SIGLEC12: view

Phenotypes for SIGLEC12 Gene

genes like me logo Genes that share phenotypes with SIGLEC12: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SIGLEC12

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SIGLEC12 Gene

Localization for SIGLEC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIGLEC12 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIGLEC12 Gene COMPARTMENTS Subcellular localization image for SIGLEC12 gene
Compartment Confidence
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SIGLEC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SIGLEC12: view

Pathways & Interactions for SIGLEC12 Gene

genes like me logo Genes that share pathways with SIGLEC12: view

Pathways by source for SIGLEC12 Gene

Gene Ontology (GO) - Biological Process for SIGLEC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with SIGLEC12: view

No data available for SIGNOR curated interactions for SIGLEC12 Gene

Drugs & Compounds for SIGLEC12 Gene

(2) Drugs for SIGLEC12 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
tyrosine Nutra 547

(1) Additional Compounds for SIGLEC12 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sialic acid
genes like me logo Genes that share compounds with SIGLEC12: view

Transcripts for SIGLEC12 Gene

mRNA/cDNA for SIGLEC12 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SIGLEC12 Gene

Sialic acid binding Ig-like lectin 12 (gene/pseudogene):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SIGLEC12

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIGLEC12 Gene

No ASD Table

Relevant External Links for SIGLEC12 Gene

GeneLoc Exon Structure for
SIGLEC12
ECgene alternative splicing isoforms for
SIGLEC12

Expression for SIGLEC12 Gene

mRNA expression in normal human tissues for SIGLEC12 Gene

mRNA differential expression in normal tissues according to GTEx for SIGLEC12 Gene

This gene is overexpressed in Spleen (x28.0) and Whole Blood (x5.9).

Protein differential expression in normal tissues from HIPED for SIGLEC12 Gene

This gene is overexpressed in Urinary Bladder (58.2) and CD4 Tcells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SIGLEC12 Gene



SOURCE GeneReport for Unigene cluster for SIGLEC12 Gene Hs.249741

mRNA Expression by UniProt/SwissProt for SIGLEC12 Gene

Q96PQ1-SIG12_HUMAN
Tissue specificity: Isoform Short is highly expressed in spleen, small intestine and adrenal gland; it is lower expressed in thyroid, placenta, brain, stomach, bone marrow, spinal chord and breast. Isoform Long is highly expressed in spleen, small intestine and bone marrow; it is lower expressed in thyroid, placenta, thymus, trachea, stomach, lung, adrenal gland, fetal brain and testis
genes like me logo Genes that share expression patterns with SIGLEC12: view

Protein tissue co-expression partners for SIGLEC12 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SIGLEC12 Gene

Orthologs for SIGLEC12 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SIGLEC12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia -- 36
  • 62 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 36 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Siglece 36
  • 50 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 78 (a)
ManyToMany
Species with no ortholog for SIGLEC12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SIGLEC12 Gene

ENSEMBL:
Gene Tree for SIGLEC12 (if available)
TreeFam:
Gene Tree for SIGLEC12 (if available)

Paralogs for SIGLEC12 Gene

(8) SIMAP similar genes for SIGLEC12 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SIGLEC12: view

Variants for SIGLEC12 Gene

Sequence variations from dbSNP and Humsavar for SIGLEC12 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs968491 -- 51,499,234(+) AGACA(A/C)GGAGT intron-variant
rs1551555 -- 51,502,080(+) CCCAT(A/G)TGGCC upstream-variant-2KB
rs1551556 -- 51,502,415(+) ATTCC(A/G)TGTGT upstream-variant-2KB
rs1551557 -- 51,502,426(+) TGATA(A/C)ACACC upstream-variant-2KB
rs1551558 -- 51,502,428(+) ATACA(C/T)ACCAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SIGLEC12 Gene

Variant ID Type Subtype PubMed ID
dgv1109e1 CNV Complex 17122850
esv638 CNV CNV 17122850
nsv469584 CNV Complex 16826518
esv33175 CNV Gain 17666407

Variation tolerance for SIGLEC12 Gene

Residual Variation Intolerance Score: 97.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.53; 91.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SIGLEC12 Gene

HapMap Linkage Disequilibrium report
SIGLEC12
Human Gene Mutation Database (HGMD)
SIGLEC12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIGLEC12 Gene

Disorders for SIGLEC12 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SIGLEC12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
non-invasive bladder papillary urothelial neoplasm
  • bladder papillary neoplasm of low malignant potential
mucocele of salivary gland
  • mucocele of salivary gland unspecified
choledochal cyst
  • congenital choledochal cyst
bladder papillary transitional cell neoplasm
  • urinary bladder papillary urothelial neoplasm
urinary tract papillary transitional cell benign neoplasm
  • inverted papilloma of urinary tract
- elite association

Relevant External Links for SIGLEC12

Genetic Association Database (GAD)
SIGLEC12
Human Genome Epidemiology (HuGE) Navigator
SIGLEC12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIGLEC12
genes like me logo Genes that share disorders with SIGLEC12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIGLEC12 Gene

Publications for SIGLEC12 Gene

  1. Cloning and molecular characterization of two splice variants of a new putative member of the Siglec-3-like subgroup of Siglecs. (PMID: 11409877) Foussias G. … Diamandis E.P. (Biochem. Biophys. Res. Commun. 2001) 2 23 67
  2. SIGLEC12, a human-specific segregating (pseudo)gene, encodes a signaling molecule expressed in prostate carcinomas. (PMID: 21555517) Mitra N. … Varki A. (J. Biol. Chem. 2011) 2 67
  3. Decoration of T-independent antigen with ligands for CD22 and Siglec-G can suppress immunity and induce B cell tolerance in vivo. (PMID: 20038598) Duong B.H. … Nemazee D. (J. Exp. Med. 2010) 23 67
  4. Siglecs as positive and negative regulators of the immune system. (PMID: 19021577) Crocker P.R. … Redelinghuys P. (Biochem. Soc. Trans. 2008) 23 67
  5. Characterization of the SP11/SCR high-affinity binding site involved in self/nonself recognition in brassica self-incompatibility. (PMID: 17220204) Shimosato H. … Takayama S. (Plant Cell 2007) 23 67

Products for SIGLEC12 Gene

Sources for SIGLEC12 Gene

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