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This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017]
SPN (Sialophorin) is a Protein Coding gene. Diseases associated with SPN include Wiskott-Aldrich Syndrome and Adenoid Basal Cell Carcinoma. Among its related pathways are Cell surface interactions at the vascular wall and Hematopoietic Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | TAS,IEA | -- |
GO:0030544 | Hsp70 protein binding | IPI | 20633027 |
GO:0031072 | heat shock protein binding | IPI | 20633027 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001931 | uropod | ISS | -- |
GO:0005615 | extracellular space | IDA | 10899905 |
GO:0005634 | nucleus | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 2023632 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002296 | T-helper 1 cell lineage commitment | IDA | 18036228 |
GO:0006935 | chemotaxis | TAS | 10753822 |
GO:0006955 | immune response | TAS | 2023632 |
GO:0006968 | cellular defense response | TAS | 1683685 |
GO:0007162 | negative regulation of cell adhesion | TAS | 10753822 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPN 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Spn 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Spn 30 |
|
||
Dog (Canis familiaris) |
Mammalia | SPN 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPN 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SPN 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710083 | Benign: not provided | 29,664,376(+) | C/T | SYNONYMOUS_VARIANT | |
717407 | Benign: not provided | 29,663,793(+) | C/T | MISSENSE_VARIANT | |
733825 | Benign: not provided | 29,664,565(+) | G/A | SYNONYMOUS_VARIANT | |
777002 | Benign: not provided | 29,664,403(+) | C/T | SYNONYMOUS_VARIANT | |
778501 | Benign: not provided | 29,664,525(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv34n68 | CNV | loss | 17160897 |
esv2758641 | CNV | gain | 17122850 |
nsv1063706 | CNV | gain | 25217958 |
nsv833183 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
wiskott-aldrich syndrome |
|
|
adenoid basal cell carcinoma |
|
|
aleukemic monocytic leukemia cutis |
|
|
richter's syndrome |
|
|
multicentric papillary thyroid carcinoma |
|
|