UniProt | Protein Name |
---|---|
O95528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
circulatory system development | ||
negative regulation of connective tissue growth factor production | ||
transport across blood-brain barrier |
|
|
positive regulation of transforming growth factor beta receptor signaling pathway | ||
positive regulation of proteoglycan biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
carbohydrate:proton symporter activity |
|
|
symporter activity | ||
D-glucose transmembrane transporter activity | ||
dehydroascorbic acid transmembrane transporter activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:10124 | corneal disease | |
DOID:10126 | keratoconus | |
DOID:10223 | dermatomyositis | |
DOID:10348 | blepharophimosis | |
DOID:1059 | intellectual disability | |
DOID:10763 | hypertension | |
DOID:10825 | essential hypertension | |
DOID:11162 | respiratory failure | |
DOID:11394 | adult respiratory distress syndrome | |
DOID:11830 | myopia |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000193 | Bifid uvula |
HP:0000218 | High palate |
HP:0000256 | Macrocephaly |
HP:0000272 | Malar flattening |
HP:0000276 | Long face |
HP:0000316 | Hypertelorism |
HP:0000343 | Long philtrum |
HP:0000347 | Micrognathia |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
123797055 | URSAM09046 | ||
122215459 | PANLE01526 | ||
101322209 | TURTR08380 | ||
118881844 | BALMU20220 | ||
100667596 | LOXAF13236 | ||
100071243 | HORSE20729 | ||
102169886 | CAPHI04315 | ||
101118547 | SHEEP04789 | ||
100774864 | CRIGR07546 | ||
170441 | MGI:2156687 | MOUSE34247 |
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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