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This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
CD109 (CD109 Molecule) is a Protein Coding gene. Diseases associated with CD109 include Fetal And Neonatal Alloimmune Thrombocytopenia and Gallbladder Squamous Cell Carcinoma. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and transforming growth factor beta binding. An important paralog of this gene is CPAMD8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004866 | endopeptidase inhibitor activity | IEA | -- |
GO:0004867 | serine-type endopeptidase inhibitor activity | IEA | -- |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO:0050431 | transforming growth factor beta binding | IPI | 16754747 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009986 | cell surface | HDA | 19581412 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
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|
2 | Metabolism of proteins | ||
3 | Post-translational modification- synthesis of GPI-anchored proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001933 | negative regulation of protein phosphorylation | IEA | -- |
GO:0001942 | hair follicle development | IEA | -- |
GO:0002576 | platelet degranulation | TAS | -- |
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
GO:0010839 | negative regulation of keratinocyte proliferation | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD109 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD109 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD109 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cd109 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd109 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CD109 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CD109 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD109 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486953 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cd109 30 |
|
||
CD109 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | TEP15 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tep3 30 |
|
||
TepII 31 32 |
|
OneToMany | |||
TepI 31 32 |
|
OneToMany | |||
TepIII 31 32 |
|
OneToMany | |||
TepIV 31 32 |
|
OneToMany | |||
Mcr 32 |
|
|
|||
CG13079 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | tep-1 30 31 |
|
OneToOne | |
ZK337.1a 32 |
|
|
|||
ZK337.1b 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6169 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
723668 | Likely Benign: not provided | 73,766,944(+) | C/T | INTRON_VARIANT | |
725586 | Likely Benign: not provided | 73,810,154(+) | G/A | MISSENSE_VARIANT | |
727282 | Benign: not provided | 73,812,279(+) | C/T | INTRON_VARIANT | |
771401 | Benign: not provided | 73,812,276(+) | T/A | INTRON_VARIANT | |
773471 | Likely Benign: not provided | 73,766,068(+) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv6015n100 | CNV | gain | 25217958 |
esv1316113 | CNV | deletion | 17803354 |
esv2379909 | CNV | deletion | 18987734 |
esv2499472 | CNV | deletion | 19546169 |
esv2732297 | CNV | deletion | 23290073 |
esv29490 | CNV | gain | 19812545 |
esv3439259 | CNV | insertion | 20981092 |
esv3539981 | CNV | deletion | 23714750 |
esv3576178 | CNV | gain | 25503493 |
esv3609516 | CNV | gain | 21293372 |
esv9431 | CNV | loss | 19470904 |
nsv1074411 | CNV | deletion | 25765185 |
nsv1114840 | CNV | deletion | 24896259 |
nsv1137113 | CNV | deletion | 24896259 |
nsv1146204 | CNV | deletion | 26484159 |
nsv348528 | CNV | deletion | 16902084 |
nsv463154 | CNV | gain | 19166990 |
nsv527906 | CNV | loss | 19592680 |
nsv528148 | CNV | loss | 19592680 |
nsv603695 | CNV | gain | 21841781 |
nsv956541 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fetal and neonatal alloimmune thrombocytopenia |
|
|
gallbladder squamous cell carcinoma |
|
|
myxofibrosarcoma |
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adenosquamous gallbladder carcinoma |
|
|
epithelioid sarcoma |
|
|