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:0060321 | umbilical hernia | |
DOID:0060327 | omphalocele | |
DOID:0060731 | congenital central hypoventilation syndrome | |
DOID:0060762 | restrictive dermopathy | |
DOID:0060862 | mal de Meleda | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070130 | autosomal dominant cutis laxa 1 | |
DOID:0070131 | autosomal dominant cutis laxa 3 | |
DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
DOID:0070133 | autosomal recessive cutis laxa type IB |
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 |
---|---|---|---|
444458 | Xenbase:XB-GENE-950495 | ||
780388 | Xenbase:XB-GENE-950490 | ||
101935954 | CHRPI17933 | ||
109313146 | CROPO22541 | ||
113434384 | PSETE05064 | ||
100090727 | ORNAN25685 | ||
100927307 | SARHA06589 | ||
100408744 | CALJA32940 | ||
105588518 | CERAT30367 | ||
102130728 | MACFA01868 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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