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This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014]
CD177 (CD177 Molecule) is a Protein Coding gene. Diseases associated with CD177 include Polycythemia and Polycythemia Vera. Among its related pathways are Cell surface interactions at the vascular wall and Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is LYPD4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 17244676 |
GO:0005178 | integrin binding | IPI | 21193407 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0048306 | calcium-dependent protein binding | IPI | 17580308 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030027 | lamellipodium | IEA | -- |
GO:0030667 | secretory granule membrane | IDA | 18462208 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
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2 | Formation of Fibrin Clot (Clotting Cascade) | ||
3 | Cell surface interactions at the vascular wall | ||
4 | Response to elevated platelet cytosolic Ca2+ |
.44
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0007155 | cell adhesion | IMP | 28807980 |
GO:0007159 | leukocyte cell-cell adhesion | IMP | 17580308 |
GO:0007596 | blood coagulation | TAS | -- |
GO:0030100 | regulation of endocytosis | IDA | 28807980 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD177 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC612424 30 |
|
||
CD177 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Cd177 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd177 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | CD177 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710859 | Benign: not provided | 43,360,267(+) | T/G | MISSENSE_VARIANT | |
777054 | Likely Benign: not provided | 43,360,274(+) | C/T | MISSENSE_VARIANT | |
785915 | Benign: not provided | 43,362,096(+) | T/A | MISSENSE_VARIANT | |
785916 | Benign: not provided | 43,362,103(+) | A/G | MISSENSE_VARIANT | |
rs10425835 | - | p.Leu251Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3591n100 | CNV | loss | 25217958 |
dgv3603n100 | CNV | gain | 25217958 |
dgv6502n54 | CNV | loss | 21841781 |
esv2751795 | CNV | loss | 17911159 |
esv2758763 | CNV | gain+loss | 17122850 |
esv3644464 | CNV | loss | 21293372 |
esv5616 | OTHER | inversion | 19470904 |
esv8862 | OTHER | inversion | 19470904 |
nsv1057657 | CNV | gain | 25217958 |
nsv1057682 | CNV | loss | 25217958 |
nsv1060280 | CNV | gain | 25217958 |
nsv469666 | CNV | loss | 16826518 |
nsv469787 | CNV | loss | 16826518 |
nsv516973 | CNV | gain+loss | 19592680 |
nsv526966 | CNV | loss | 19592680 |
nsv828560 | CNV | gain | 20364138 |
nsv828561 | CNV | loss | 20364138 |
nsv963057 | CNV | duplication | 23825009 |
nsv978908 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polycythemia |
|
|
polycythemia vera |
|
|
essential thrombocythemia |
|
|
neonatal alloimmune neutropenia |
|
|
myelofibrosis |
|