1. Gene
  2. SIGLEC12 - sialic acid binding Ig like lectin 12 Gene

SIGLEC12 - sialic acid binding Ig like lectin 12 Gene

Homo sapiens

Also known as S2V; SLG; SIGLECL1; Siglec-XII

Gene ID: 89858 | Gene type: protein coding

About SIGLEC12

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,491,227-51,501,800 (from NCBI)

This gene has 3 transcripts (splice variants), 81 orthologues and 16 paralogues. Biased expression in spleen (RPKM 5.4), appendix (RPKM 3.1) and 9 other tissues.

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]

SIGLEC12 Products(3)

mRNA Protein Name
NM_001412258.1 NP_001399187.1 sialic acid-binding Ig-like lectin 12 isoform c
NM_033329.2 NP_201586.1 sialic acid-binding Ig-like lectin 12 isoform b precursor
NM_053003.4 NP_443729.1 sialic acid-binding Ig-like lectin 12 isoform a precursor

SIGLEC12 Protein Structure

V-set

V-set: Immunoglobulin V-set domain (29 - 141)

V-set

V-set: Immunoglobulin V-set domain (156 - 269)

C2-set_2

C2-set_2: CD80-like C2-set immunoglobulin domain (286 - 347)

Ig_2

Ig_2: Immunoglobulin domain (391 - 455)

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  • 595 a.a.
Protein Preferred Names Protein Names

sialic acid-binding Ig-like lectin 12

SIGLEC-like 1

Related Diseases

Diseases Alias
Craniotubular Dysplasia, Ikegawa Type

CTDI

Craniotubular Dysplasia Ikegawa Type

Doid:0112340

Non-Invasive Bladder Papillary Urothelial Neoplasm

Bladder Papillary Neoplasm Of Low Malignant Potential

Bladder Punlmp

Papillary Urothelial Neoplasm Of Low Malignant Potential

Papillary Transitional Cell Neoplasm Of Low Malignant Potential

Drug-Induced Lupus Erythematosus

Dile

Dil

Drug-Induced Systemic Lupus Erythematosus

Bladder Papillary Transitional Cell Neoplasm

Urinary Bladder Papillary Urothelial Neoplasm

Bladder Papillary Urothelial Neoplasm

Urinary Tract Papillary Transitional Cell Benign Neoplasm

Inverted Papilloma Of Urinary Tract

Papillary Transitional Cell Neoplasm Of The Urinary Tract

Urinary Tract Inverted Papilloma

Inverted Urothelial Papilloma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SIGLEC12 MGD MGI:1932475