SIGLEC12 Gene (Protein Coding)

Sialic Acid Binding Ig Like Lectin 12

GC19M051491
GIFtS:
39
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 subfamil... See more...

Aliases for SIGLEC12 Gene

Aliases for SIGLEC12 Gene

  • Sialic Acid Binding Ig Like Lectin 12 2 3 5
  • SLG 2 3 4
  • Sialic Acid-Binding Ig-Like Lectin-Like 1 3 4
  • Sialic Acid-Binding Ig-Like Lectin 12 3 4
  • SIGLEC-Like 1 2 3
  • Siglec-XII 2 3
  • Siglec-12 2 4
  • Siglec-L1 2 4
  • SIGLECL1 3 4
  • S2V 2 3
  • Sialic Acid Binding Ig-Like Lectin 12 (Gene/Pseudogene) 2
  • Sialic Acid Binding Ig Like Lectin 12 (Gene/Pseudogene) 2
  • Sialic Acid Binding Ig-Like Lectin 12 2
  • SIGLEC12 5

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) is a Protein Coding gene. Diseases associated with SIGLEC12 include Non-Invasive Bladder Papillary Urothelial Neoplasm and Bladder Papillary Transitional Cell Neoplasm. Among its related pathways are Innate Immune System and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SIGLEC7.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SIGLEC12 Gene

Genomics for SIGLEC12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 301.7 +0.5 499 1.8 ZNF316 SPI1 POLR2A GABPB1 ETV6 EMSY ZNF592 SIGLEC12 CEACAM18
GH19J051506 Enhancer 1.1 Ensembl ENCODE 43.5 -7.2 -7191 6 IKZF1 SMAD5 HES1 MBD2 ARNT ZNF395 REST GTF2E2 CTCF NFATC3 SIGLEC27P lnc-CEACAM18-3 SIGLEC12 ZNF841 SIGLEC14 HSALNG0127222 SIGLEC6
GH19J051531 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 32.4 -29.9 -29931 1.4 TBP BHLHE40 VEZF1 IRF4 GABPA ZFP91 FOSL1 CBX1 SPI1 POLR2A SIGLEC6 SIGLEC12 CEACAM18 SIGLEC8 SIGLEC5 RPL7P51 SIGLEC14 lnc-SIGLEC12-2
GH19J051515 Enhancer 0.9 Ensembl ENCODE 41.3 -13.6 -13613 1.6 CTCF ZNF395 REST TRIM22 SMC3 RAD21 TEAD3 BATF XRCC3 HNF4A HSALNG0127222 SIGLEC12 ZNF350 ZNF841 ZNF808 ZNF836 ZNF766 CEACAM18 SIGLEC8 RPL7P51
GH19J051525 Enhancer 0.4 Ensembl 48.5 -24.1 -24101 1 IKZF1 TFDP1 ZFX NFIC HSALNG0127224 SIGLEC12 CEACAM18 SIGLEC8 SIGLEC5 RPL7P51 SIGLEC14 lnc-SIGLEC12-2 SIGLEC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIGLEC12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIGLEC12

Top Transcription factor binding sites by QIAGEN in the SIGLEC12 gene promoter:
  • aMEF-2
  • ARP-1
  • MEF-2
  • MEF-2A
  • TGIF

Genomic Locations for SIGLEC12 Gene

Latest Assembly
chr19:51,491,227-51,501,800
(GRCh38/hg38)
Size:
10,574 bases
Orientation:
Minus strand

Previous Assembly
chr19:51,994,481-52,005,054
(GRCh37/hg19 by Entrez Gene)
Size:
10,574 bases
Orientation:
Minus strand

chr19:51,994,611-52,005,043
(GRCh37/hg19 by Ensembl)
Size:
10,433 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for SIGLEC12 Gene

Proteins for SIGLEC12 Gene

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  • 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

Protein Expression for SIGLEC12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SIGLEC12 Gene

  • Glycosylation at Asn179, Asn230, Asn140, Asn290, Asn360, Asn367, and Asn385
  • Modification sites at PhosphoSitePlus

Other Protein References for SIGLEC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIGLEC12 Gene

Domains & Families for SIGLEC12 Gene

Gene Families for SIGLEC12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SIGLEC12 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin V-set
ProtoNet:

Suggested Antigen Peptide Sequences for SIGLEC12 Gene

GenScript: Design optimal peptide antigens:
  • Sialic acid-binding Ig-like lectin-like 1 (SIG12_HUMAN)

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

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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:0005515 protein binding IPI 32296183
GO:0030246 carbohydrate binding IEA --
GO:0033691 sialic acid binding IBA 21873635
genes like me logo Genes that share ontologies with SIGLEC12: view
genes like me logo Genes that share phenotypes with SIGLEC12: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIGLEC12

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 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SIGLEC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
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 IBA 21873635
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

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(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

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mRNA/cDNA for SIGLEC12 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIGLEC12

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

No ASD Table

Relevant External Links for SIGLEC12 Gene

GeneLoc Exon Structure for
SIGLEC12

Expression for SIGLEC12 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SIGLEC12 Gene

mRNA expression in normal human tissues for SIGLEC12 Gene
mRNA expression by GTEx for SIGLEC12 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
genes like me logo Genes that share expression patterns with SIGLEC12: view

Primer products for research

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 -- 31
  • 78 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia -- 31
  • 62 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Siglece 31
  • 50 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 36 (a)
 ManyToMany
Species where no ortholog for SIGLEC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Paralogs for SIGLEC12 Gene

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

  • SIG12_HUMAN
  • M0QYF3_HUMAN

Pseudogenes.org Pseudogenes for SIGLEC12 Gene

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

Variants for SIGLEC12 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIGLEC12 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs143060530 Benign: not provided 51,499,592(-) C/T
NM_053003.4(SIGLEC12):c.933G>A (p.Gly311=) 		SYNONYMOUS
rs2034891 -. - p.Pro81Thrp.Pro81His
rs6509544 -. - p.His217Glnp.Gly218Arg
rs66949844 Benign: not specified 51,501,537(-) G/GC
NM_053003.4(SIGLEC12):c.196dup (p.Ala66fs) 		FRAMESHIFT
rs76945124 Benign: not provided 51,501,584(-) T/C
NM_053003.4(SIGLEC12):c.150A>G (p.Gln50=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SIGLEC12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SIGLEC12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SIGLEC12 Gene - From: COP

Disorder Aliases PubMed IDs
non-invasive bladder papillary urothelial neoplasm
  • bladder papillary neoplasm of low malignant potential
bladder papillary transitional cell neoplasm
  • urinary bladder papillary urothelial neoplasm
urinary tract papillary transitional cell benign neoplasm
  • inverted papilloma of urinary tract
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SIGLEC12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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
  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 41
  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
  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

ExternalLinks

View latest publications for SIGLEC12 gene in Mastermind

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