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:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000047 | Hypospadias |
HP:0000085 | Horseshoe kidney |
HP:0000175 | Cleft palate |
HP:0000202 | Orofacial cleft |
HP:0000204 | Cleft upper lip |
HP:0000218 | High palate |
HP:0000289 | Broad philtrum |
HP:0000316 | Hypertelorism |
Disease ID | Disease Name |
---|---|
ORPHA:293843 |
|
OMIM:265050 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115035498 | ECHNA39637 | ||
115406706 | SALFA11402 | ||
105820466 | PROCO29318 | ||
109086045 | CYPCA100774 | ||
109107771 | CYPCA88568 | ||
103747645 | NANGA00383 | ||
116442002 | CORMO18450 | ||
115610018 | STRHB17178 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024