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 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060575 | 3MC syndrome 1 | |
DOID:0060576 | 3MC syndrome 2 | |
DOID:0060577 | 3MC syndrome 3 | |
DOID:0080073 | spina bifida occulta | |
DOID:0110213 | isolated cleft palate | |
DOID:10003 | sensorineural hearing loss | |
DOID:10113 | trypanosomiasis | |
DOID:10348 | blepharophimosis | |
DOID:104 | bacterial infectious disease | |
DOID:10426 | Klippel-Feil syndrome |
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 |
---|---|---|---|
100660975 | LOXAF12680 | ||
100736753 | PIGXX22604 | ||
613991 | BOVIN35243 | ||
102185274 | CAPHI29762 | ||
101120299 | SHEEP08650 | ||
105995183 | DIPOR22167 | ||
100765657 | CRIGR19680 | ||
71693 | MGI:1918943 | MOUSE08231 | |
366588 | RGD:1309678 | ||
100730989 | CAVPO20043 |
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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