UniProt | Protein Name |
---|---|
P48740 |
|
GO Term | Evidence Code | PMID |
---|---|---|
complement activation, lectin pathway | ||
zymogen activation |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
extracellular region |
|
|
extracellular space | ||
nucleoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
protein homodimerization activity | ||
peptidase activity | ||
serine-type endopeptidase activity | ||
calcium ion binding | ||
calcium-dependent protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110048 | Alzheimer's disease 15 | |
DOID:0110106 | atrial heart septal defect 1 | |
DOID:0110107 | atrial heart septal defect 2 | |
DOID:0110108 | atrial heart septal defect 3 | |
DOID:0110109 | atrial heart septal defect 4 | |
DOID:0110110 | atrial heart septal defect 5 | |
DOID:0110111 | atrial heart septal defect 6 | |
DOID:0110112 | atrial heart septal defect 7 | |
DOID:0110113 | atrial heart septal defect 8 | |
DOID:0110114 | atrial heart septal defect 9 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000126 | Hydronephrosis |
HP:0000175 | Cleft palate |
HP:0000202 | Orofacial cleft |
HP:0000204 | Cleft upper lip |
HP:0000252 | Microcephaly |
HP:0000260 | Wide anterior fontanel |
HP:0000316 | Hypertelorism |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
Disease ID | Disease Name |
---|---|
ORPHA:293843 |
|
OMIM:257920 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108530465 | RHIBE00803 | ||
104653539 | RHIRO05729 | ||
100601109 | NOMLE02889 | ||
114598179 | PODMU37227 | ||
107582221 | SINGR27403 | ||
107586740 | SINGR10268 | ||
111573564 | AMPOC17910 | ||
106832546 | EQUAS17299 | ||
116823020 | CHEAB02192 | ||
115052730 | ECHNA07201 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024