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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]
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
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3 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IBA | 21873635 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
ManyToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Siglece 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany |
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 |
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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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758767 | CNV | gain+loss | 17122850 |
esv33175 | CNV | gain | 17666407 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv469584 | CNV | loss | 16826518 |
Disorder | Aliases | PubMed IDs |
---|---|---|
non-invasive bladder papillary urothelial neoplasm |
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bladder papillary transitional cell neoplasm |
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urinary tract papillary transitional cell benign neoplasm |
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