UniProt | Protein Name |
---|---|
O95528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of transforming growth factor beta receptor signaling pathway | ||
regulation of extracellular matrix organization | ||
negative regulation of integrin-mediated signaling pathway | ||
proton transmembrane transport | ||
skin development |
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: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