UniProt | Protein Name |
---|---|
P48740 |
|
GO Term | Evidence Code | PMID |
---|---|---|
complement activation, lectin pathway | ||
zymogen activation | ||
negative regulation of complement activation |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
nucleoplasm | ||
extracellular space | ||
cytosol |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
calcium-dependent protein binding | ||
identical protein binding | ||
peptidase activity | ||
calcium ion binding |
HPO ID | HPO Term |
---|---|
HP:0000377 | Abnormal pinna morphology |
HP:0000405 | Conductive hearing impairment |
HP:0000494 | Downslanted palpebral fissures |
HP:0000496 | Abnormality of eye movement |
HP:0000501 | Glaucoma |
HP:0000506 | Telecanthus |
HP:0000508 | Ptosis |
HP:0000524 | Conjunctival telangiectasia |
HP:0000537 | Epicanthus inversus |
HP:0000581 | Blepharophimosis |
Disease ID | Disease Name |
---|---|
ORPHA:293843 |
|
OMIM:257920 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
109084544 | CYPCA94124 | |||
109104125 | CYPCA115248 | |||
109308542 | CROPO15376 | |||
110210181 | PHACI13766 | |||
111216830 | SERDU16817 | |||
111573564 | AMPOC17910 | |||
112926302 | VULVU20581 | |||
113890940 | BOBOX29448 | |||
114598179 | PODMU37227 | |||
115052730 | ECHNA07201 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024