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Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]
SIGLEC8 (Sialic Acid Binding Ig Like Lectin 8) is a Protein Coding gene. Diseases associated with SIGLEC8 include Eosinophilic Gastritis and Chronic Inducible Urticaria. Among its related pathways are Innate Immune System and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and carbohydrate binding. An important paralog of this gene is SIGLEC12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | TAS | 10625619 |
GO:0005515 | protein binding | IPI | 21982860 |
GO:0030246 | carbohydrate binding | TAS,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 | TAS,IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IBA | 21873635 |
GO:0007165 | signal transduction | TAS | 10625619 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SIGLEC8 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SIGLEC12 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
LOC618463 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Siglec5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Siglec5 30 |
|
||
Siglece 31 |
|
OneToMany | |||
Siglecf 17 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114809409 | Benign: not provided | 51,452,586(-) |
A/C NM_014442.3(SIGLEC8):c.1293T>G (p.Pro431=) |
SYNONYMOUS | |
rs149444610 | Benign: not provided | 51,457,463(-) |
G/A NM_014442.3(SIGLEC8):c.731C>T (p.Ser244Phe) |
MISSENSE_VARIANT,INTRON | |
rs61735201 | Benign: not provided | 51,458,250(-) |
G/A NM_014442.3(SIGLEC8):c.138C>T (p.Pro46=) |
SYNONYMOUS | |
rs10409962 | - |
p.Ser170Pro |
|||
rs3829659 | - |
p.Arg388Gly |
Disorder | Aliases | PubMed IDs |
---|---|---|
eosinophilic gastritis |
|
|
chronic inducible urticaria |
|
|
chronic frontal sinusitis |
|
|
congenital disorder of glycosylation, type iic |
|
|
esophagitis, eosinophilic, 1 |
|
|