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:0110432 | dilated cardiomyopathy 1NN | |
DOID:0110433 | dilated cardiomyopathy 1E | |
DOID:0110434 | dilated cardiomyopathy 1Z | |
DOID:0110435 | dilated cardiomyopathy 1GG | |
DOID:0110436 | dilated cardiomyopathy 1L | |
DOID:0110437 | dilated cardiomyopathy 1K | |
DOID:0110438 | dilated cardiomyopathy 1JJ | |
DOID:0110439 | dilated cardiomyopathy 1P | |
DOID:0110441 | dilated cardiomyopathy 2B | |
DOID:0110442 | dilated cardiomyopathy 1Q |
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 |
---|---|---|---|
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