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:0110453 | dilated cardiomyopathy 1EE | |
DOID:0110454 | dilated cardiomyopathy 1S | |
DOID:0110455 | dilated cardiomyopathy 1U | |
DOID:0110456 | dilated cardiomyopathy 1R | |
DOID:0110457 | dilated cardiomyopathy 1Y | |
DOID:0110458 | dilated cardiomyopathy 1BB | |
DOID:0110459 | dilated cardiomyopathy 1FF | |
DOID:0110460 | dilated cardiomyopathy 2A | |
DOID:0110461 | X-linked dilated cardiomyopathy | |
DOID:0110910 | leukocyte adhesion deficiency 1 |
HPO ID | HPO Term |
---|---|
HP:0003623 | Neonatal onset |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0004415 | Pulmonary artery stenosis |
HP:0004942 | Aortic aneurysm |
HP:0004955 | Generalized arterial tortuosity |
HP:0005328 | Progeroid facial appearance |
HP:0005344 | Abnormal carotid artery morphology |
HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
HP:0006543 | Cardiorespiratory arrest |
HP:0006687 | Aortic tortuosity |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102016323 | CHILA11826 | ||
105727486 | AOTNA07635 | ||
110206616 | PHACI00198 | ||
101040709 | SAIBB26879 | ||
101966994 | ICTTR02658 | ||
101607172 | JACJA15563 | ||
118309064 | SCOMX28233 | ||
102437193 | MYOLU06518 | ||
117016105 | RHIFE23825 | ||
103244874 | CHLSB07609 |
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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