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Aliases for SIGLEC12 Gene

Aliases for SIGLEC12 Gene

  • Sialic Acid Binding Ig Like Lectin 12 (Gene/Pseudogene) 2 3 5
  • Sialic Acid-Binding Ig-Like Lectin-Like 1 3 4
  • Sialic Acid Binding Ig-Like Lectin 12 2 3
  • SIGLEC-Like 1 2 3
  • SIGLECL1 3 4
  • SLG 3 4
  • Sialic Acid Binding Ig-Like Lectin 12 (Gene/Pseudogene) 2
  • Sialic Acid-Binding Ig-Like Lectin 12 3
  • 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 Mucocele Of Salivary Gland and Non-Invasive Bladder Papillary Urothelial Neoplasm. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Innate Immune System. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SIGLEC7.

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

Additional gene information for SIGLEC12 Gene

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

Genomics for SIGLEC12 Gene

GeneHancer (GH) Regulatory Elements for SIGLEC12 Gene

Promoters and enhancers for SIGLEC12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J051500 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 701.7 +0.3 288 1.8 ZNF316 POLR2A GABPB1 ETV6 EMSY ZNF592 SIGLEC12 CEACAM18
GH19J051506 Enhancer 1.2 Ensembl ENCODE 43.4 -5.8 -5830 2.9 HDGF PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 POLR2B ZNF766 GATA2 SIGLEC27P SIGLEC12 SIGLEC14 ENSG00000268839
GH19J051531 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 32.4 -29.9 -29922 1.4 HDAC1 IRF4 ZNF766 CBX5 ZFP91 BCLAF1 IKZF2 RUNX3 CREM ZNF263 SIGLEC6 SIGLEC12 ZNF841 ZNF350 ZNF836 ZNF616 CTU1 CLEC11A ZNF613 ZNF175
GH19J051545 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -48.0 -47984 8 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A IRF4 POLR2B ZNF175 ZNF841 ZNF836 SIGLEC6 ZNF616 ZNF350 ZNF808 CTU1 ZNF613 ZNF766
GH19J051539 Enhancer 0.8 dbSUPER 19.2 -39.6 -39612 4.1 HDAC1 HDGF ATF1 NFRKB ZNF766 ATF7 SMARCA5 CAVIN1 ZNF592 SMARCA4 SIGLEC12 CEACAM18 SIGLEC8 SIGLEC5 RPL7P51 SIGLEC14 ZNF175 SIGLEC28P SIGLEC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIGLEC12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIGLEC12 gene promoter:

Genomic Locations for SIGLEC12 Gene

Genomic Locations for SIGLEC12 Gene
chr19:51,491,227-51,501,789
(GRCh38/hg38)
Size:
10,563 bases
Orientation:
Minus strand
chr19:51,994,611-52,005,043
(GRCh37/hg19)

Genomic View for SIGLEC12 Gene

Genes around SIGLEC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIGLEC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SIGLEC12 Gene

  • Glycosylation at isoforms=2385, isoforms=2367, posLast=360360, isoforms=2290, posLast=230230, isoforms=2179, and posLast=140140
  • Modification sites at PhosphoSitePlus

Other Protein References for SIGLEC12 Gene

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.
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.

Phenotypes From GWAS Catalog for SIGLEC12 Gene

Gene Ontology (GO) - Molecular Function for SIGLEC12 Gene

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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIGLEC12 gene
Compartment Confidence
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SIGLEC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SIGLEC12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIGLEC12 Gene

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

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

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

Transcripts for SIGLEC12 Gene

mRNA/cDNA for SIGLEC12 Gene

(9) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for SIGLEC12 Gene



Protein tissue co-expression partners for SIGLEC12 Gene

NURSA nuclear receptor signaling pathways regulating expression of SIGLEC12 Gene:

SIGLEC12

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.

Evidence on tissue expression from TISSUES for SIGLEC12 Gene

  • Blood(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with SIGLEC12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 78 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 62 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Siglece 34
  • 50 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 36 (a)
ManyToMany
Species where no ortholog for SIGLEC12 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SIGLEC12: view image

Paralogs for SIGLEC12 Gene

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

  • SIG12_HUMAN
  • M0QYF3_HUMAN
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 Variation AA Info Type
rs66949844 benign, not specified 51,501,538(-) CCC/CCCC coding_sequence_variant, frameshift, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000022309 -- 51,499,615(-) G/A coding_sequence_variant, missense_variant
rs1000159951 -- 51,492,717(-) T/G genic_downstream_transcript_variant, intron_variant
rs1000461322 -- 51,502,703(-) C/T upstream_transcript_variant
rs1000622458 -- 51,491,334(-) A/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2758767 CNV gain+loss 17122850
esv33175 CNV gain 17666407
nsv1140251 OTHER inversion 24896259
nsv469584 CNV loss 16826518

Variation tolerance for SIGLEC12 Gene

Residual Variation Intolerance Score: 97.8% 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)

Additional Variant Information for SIGLEC12 Gene

Human Gene Mutation Database (HGMD)
SIGLEC12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIGLEC12

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

Disorders for SIGLEC12 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SIGLEC12 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
mucocele of salivary gland
  • mucous retention cyst of salivary gland
non-invasive bladder papillary urothelial neoplasm
  • bladder papillary neoplasm of low malignant potential
salivary gland disease
  • non-neoplastic salivary gland disease
bile duct cysts
  • choledochal cysts
gastric tubular adenocarcinoma
  • tubular adenocarcinoma of stomach
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SIGLEC12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EP (Biochemical and biophysical research communications 2001) 2 3 4 22 58
  2. SIGLEC12, a human-specific segregating (pseudo)gene, encodes a signaling molecule expressed in prostate carcinomas. (PMID: 21555517) Mitra N … Varki A (The Journal of biological chemistry 2011) 2 3 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58

Products for SIGLEC12 Gene

Sources for SIGLEC12 Gene

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