UniProt | Protein Name |
---|---|
O95528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dehydroascorbic acid transport | ||
glucose transmembrane transport | ||
galactose transmembrane transport |
|
|
embryonic skeletal joint development | ||
cell redox homeostasis |
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:0110443 | dilated cardiomyopathy 1B | |
DOID:0110444 | dilated cardiomyopathy 1X | |
DOID:0110445 | dilated cardiomyopathy 1KK | |
DOID:0110446 | dilated cardiomyopathy 1W | |
DOID:0110447 | dilated cardiomyopathy 1DD | |
DOID:0110448 | dilated cardiomyopathy 1HH | |
DOID:0110449 | dilated cardiomyopathy 1M | |
DOID:0110450 | dilated cardiomyopathy 1II | |
DOID:0110451 | dilated cardiomyopathy 1O | |
DOID:0110452 | dilated cardiomyopathy 1T |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
HP:0001328 | Specific learning disability |
HP:0001363 | Craniosynostosis |
HP:0001371 | Flexion contracture |
HP:0001382 | Joint hypermobility |
HP:0001385 | Hip dysplasia |
HP:0001537 | Umbilical hernia |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
366251 | RGD:1306552 | RATNO26472 | |
100731003 | CAVPO16545 | ||
101582471 | OCTDE14086 | ||
101873451 | MELUD11811 | ||
100029696 | MONDO03248 | ||
102447112 | PELSI12135 | ||
103669697 | URSMA14531 | ||
114033299 | VOMUR11146 | ||
113902941 | BOBOX02973 | ||
100943755 | OTOGA13803 |
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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