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:6000 | congestive heart failure | |
DOID:65 | connective tissue disease | |
DOID:657 | adenoma | |
DOID:6612 | leukocyte adhesion deficiency | |
DOID:6713 | cerebrovascular disease | |
DOID:820 | myocarditis | |
DOID:8534 | gastroesophageal reflux disease | |
DOID:854 | collagen disease | |
DOID:8927 | learning disability | |
DOID:9306 | mechanical strabismus |
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 |
---|---|---|---|
366251 | RGD:1306552 | RATNO26472 | |
100731003 | CAVPO16545 | ||
101582471 | OCTDE14086 | ||
101873451 | MELUD11811 | ||
100029696 | MONDO03248 | ||
102447112 | PELSI12135 | ||
103669697 | URSMA14531 | ||
114033299 | VOMUR11146 | ||
113902941 | BOBOX02973 | ||
100943755 | OTOGA13803 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024