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 |
---|---|---|
calcium ion binding | ||
protein binding | ||
identical protein 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:0000337 | Broad forehead |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
HP:0000377 | Abnormal pinna morphology |
HP:0000426 | Prominent nasal bridge |
HP:0000431 | Wide nasal bridge |
HP:0000437 | Depressed nasal tip |
HP:0000473 | Torticollis |
HP:0000486 | Strabismus |
HP:0000494 | Downslanted palpebral fissures |
Disease ID | Disease Name |
---|---|
ORPHA:293843 |
|
OMIM:265050 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
7354375 | FB:FBgn0259230 | ||
103185971 | CALMI33560 | ||
102366728 | LATCH06079 | ||
492459 | ZFIN:ZDB-GENE-041114-11 | ||
103038988 | ASTMX07587 | ||
108269501 | ICTPU35326 | ||
106565612 | SALSA65669 | ||
106610695 | SALSA139128 | ||
115162546 | SALTR57675 | ||
115172839 | SALTR73681 |
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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