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: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 |
---|---|---|---|
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 |
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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