UniProt | Protein Name |
---|---|
Q9BWP8 |
|
GO Term | Evidence Code | PMID |
---|---|---|
complement activation, lectin pathway | ||
cell surface pattern recognition receptor signaling pathway |
|
|
developmental process | ||
proteolysis | ||
complement activation |
GO Term | Evidence Code | PMID |
---|---|---|
collagen trimer | ||
extracellular region |
|
|
external side of plasma membrane |
|
|
serine-type endopeptidase complex |
|
|
extracellular space |
GO Term | Evidence Code | PMID |
---|---|---|
DNA binding | ||
oligosaccharide binding | ||
fucose binding | ||
calcium-dependent carbohydrate binding | ||
mannose binding |
HPO ID | HPO Term |
---|---|
HP:0000506 | Telecanthus |
HP:0000508 | Ptosis |
HP:0000537 | Epicanthus inversus |
HP:0000581 | Blepharophimosis |
HP:0000593 | Abnormal anterior chamber morphology |
HP:0000925 | Abnormality of the vertebral column |
HP:0001249 | Intellectual disability |
HP:0001263 | Global developmental delay |
HP:0001363 | Craniosynostosis |
HP:0001382 | Joint hypermobility |
Disease ID | Disease Name |
---|---|
ORPHA:293843 |
|
OMIM:265050 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101154823 | ORYLA10381 | ||
100712036 | ORENI32004 | ||
380029 | Xenbase:XB-GENE-952509 | ||
100493760 | Xenbase:XB-GENE-952506 | ||
101953304 | CHRPI02181 | ||
109311677 | CROPO09769 | ||
113432957 | PSETE03210 | ||
101799162 | ANAPP01510 | ||
103820319 | SERCA02814 | ||
100077010 | ORNAN29572 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024