SIGLEC14
Sialic Acid Binding Ig Like Lectin 14
Gene Information Card
| Symbol | SIGLEC14 |
|---|---|
| Full Name | Sialic Acid Binding Ig Like Lectin 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 100049587 ncbi.nlm.nih.gov/gene/100049587 |
| Ensembl ID | ENSG00000254415 |
| UniProt ID | Q08ET2 |
| OMIM ID | 616156 |
| HGNC ID | 33644 |
| Aliases | SIGLEC-14, SIGLEC14 variant |
Description
SIGLEC14 (Sialic Acid Binding Ig Like Lectin 14) is a protein-coding gene located on chromosome 19q13.41. It encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family, which are transmembrane receptors expressed predominantly on immune cells. SIGLEC14 recognizes sialic acid residues on glycoproteins and glycolipids, modulating immune cell signaling and inflammatory responses. The gene is closely related to SIGLEC5 and exhibits allelic variation, including a common fusion with SIGLEC5 in some populations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic obstructive pulmonary disease (COPD) | SIGLEC14 deletion variant associated with altered inflammatory response to pathogens | Genetic association studies (PMID: 23354443) |
| Rheumatoid arthritis | Polymorphisms in SIGLEC14 may influence immune regulation and joint inflammation | Case-control studies (PMID: 25605247) |
| Infectious diseases (e.g., tuberculosis) | SIGLEC14 modulates macrophage and neutrophil responses to bacterial ligands | Functional studies (PMID: 28202713) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 15.1 | Medium |
| Bone marrow | 18.7 | Medium |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 22.4 | High expression |
| HL-60 (neutrophil-like) | 19.8 | High expression |
| K-562 (erythroleukemia) | 1.2 | Low expression |
| HeLa (cervical carcinoma) | 0.5 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3981226 (deletion) | Structural variant | Population frequency ~10-20% | Loss of SIGLEC14 function; fusion with SIGLEC5 |
| rs11064768 | SNP | Global MAF ~0.15 | Alters expression levels |
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon |
Mutation functional classification
Loss of Function (LOF)
Deletion variant rs3981226 results in complete loss of SIGLEC14 protein, leading to altered immune signaling.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SIGLEC14.
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • carbohydrate binding (GO:0030246) | • signal transduction (GO:0007165) |
| • innate immune response (GO:0045087) |
Pathways
• Immune System (Reactome: R-HSA-168256)
• Sialic acid metabolism (KEGG: hsa00520)
Protein Summary
SIGLEC14 is a transmembrane protein of the Siglec family, characterized by an N-terminal V-set immunoglobulin domain that binds sialic acid, followed by a C2-set domain and a cytoplasmic tail containing immunoreceptor tyrosine-based inhibitory motifs (ITIMs). It is expressed on monocytes, macrophages, neutrophils, and a subset of NK cells. Upon ligand engagement, SIGLEC14 recruits phosphatases such as SHP-1 and SHP-2 to dampen activating signals, thereby regulating inflammatory responses. The protein shares high homology with SIGLEC5, and a common deletion polymorphism fuses SIGLEC14 with SIGLEC5, creating a chimeric receptor with altered function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SIGLEC14 Knockout HEK293 Cell Line | EDJ-KQ12154 | Human | 100049587 | Details Get a Quote |
| SIGLEC14 Knockout HeLa Cell Line | EDJ-KQ60784 | Human | 100049587 | Details Get a Quote |
| SIGLEC14 Knockout A-549 Cell Line | EDJ-KQ69253 | Human | 100049587 | Details Get a Quote |
| SIGLEC14 Knockout HCT 116 Cell Line | EDJ-KQ77610 | Human | 100049587 | Details Get a Quote |