UniProt | Protein Name |
---|---|
O95528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
circulatory system development | ||
negative regulation of connective tissue growth factor production | ||
transport across blood-brain barrier |
|
|
positive regulation of transforming growth factor beta receptor signaling pathway | ||
positive regulation of proteoglycan biosynthetic process |
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:0110443 | dilated cardiomyopathy 1B | |
DOID:0110444 | dilated cardiomyopathy 1X | |
DOID:0110445 | dilated cardiomyopathy 1KK | |
DOID:0110446 | dilated cardiomyopathy 1W | |
DOID:0110447 | dilated cardiomyopathy 1DD | |
DOID:0110448 | dilated cardiomyopathy 1HH | |
DOID:0110449 | dilated cardiomyopathy 1M | |
DOID:0110450 | dilated cardiomyopathy 1II | |
DOID:0110451 | dilated cardiomyopathy 1O | |
DOID:0110452 | dilated cardiomyopathy 1T |
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 |
---|---|---|---|
108533312 | RHIBE04020 | ||
104678800 | RHIRO03794 | ||
100595321 | NOMLE07491 | ||
114599603 | PODMU05469 | ||
107557529 | SINGR80363 | ||
106847628 | EQUAS06731 | ||
105807178 | PROCO13608 | ||
109098400 | CYPCA118751 | ||
103729388 | NANGA19576 | ||
103263512 | CARSF13183 |
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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