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: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:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
HP:0001328 | Specific learning disability |
HP:0001363 | Craniosynostosis |
HP:0001371 | Flexion contracture |
HP:0001382 | Joint hypermobility |
HP:0001385 | Hip dysplasia |
HP:0001537 | Umbilical hernia |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102016323 | CHILA11826 | ||
105727486 | AOTNA07635 | ||
110206616 | PHACI00198 | ||
101040709 | SAIBB26879 | ||
101966994 | ICTTR02658 | ||
101607172 | JACJA15563 | ||
118309064 | SCOMX28233 | ||
102437193 | MYOLU06518 | ||
117016105 | RHIFE23825 | ||
103244874 | CHLSB07609 |
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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