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.

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 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
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