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:0050156 | idiopathic pulmonary fibrosis | |
DOID:0050429 | Hailey-Hailey disease | |
DOID:0050466 | Loeys-Dietz syndrome | |
DOID:0050645 | arterial tortuosity syndrome | |
DOID:0050700 | cardiomyopathy | |
DOID:0050830 | peripheral artery disease | |
DOID:0060249 | scoliosis | |
DOID:0060305 | megalocornea | |
DOID:0060319 | cardiac arrest | |
DOID:0060320 | inguinal hernia |
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 |
---|---|---|---|
716558 | MACMU02042 | ||
105496485 | MACNE14190 | ||
101026949 | PAPAN12883 | ||
105542281 | MANLE23194 | ||
101131480 | GORGO22074 | ||
100978426 | PANPA22482 | ||
469963 | PANTR25055 | ||
100445476 | PONAB20878 | ||
485911 | CANLF09627 | ||
112931897 | VULVU27512 |
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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