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:0110453 | dilated cardiomyopathy 1EE | |
DOID:0110454 | dilated cardiomyopathy 1S | |
DOID:0110455 | dilated cardiomyopathy 1U | |
DOID:0110456 | dilated cardiomyopathy 1R | |
DOID:0110457 | dilated cardiomyopathy 1Y | |
DOID:0110458 | dilated cardiomyopathy 1BB | |
DOID:0110459 | dilated cardiomyopathy 1FF | |
DOID:0110460 | dilated cardiomyopathy 2A | |
DOID:0110461 | X-linked dilated cardiomyopathy | |
DOID:0110910 | leukocyte adhesion deficiency 1 |
HPO ID | HPO Term |
---|---|
HP:0007421 | Telangiectases of the cheeks |
HP:0007495 | Prematurely aged appearance |
HP:0009099 | Median cleft palate |
HP:0010668 | Abnormal zygomatic bone morphology |
HP:0011302 | Long palm |
HP:0011462 | Young adult onset |
HP:0011463 | Childhood onset |
HP:0012158 | Carotid artery dissection |
HP:0012378 | Fatigue |
HP:0012745 | Short palpebral fissure |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103186264 | CALMI34221 | ||
102364983 | LATCH10365 | ||
560546 | ZFIN:ZDB-GENE-080204-6 | DANRE03179 | |
103042379 | ASTMX05310 | ||
108255251 | ICTPU16406 | ||
106565264 | SALSA24493 | ||
115208344 | SALTR34707 | ||
115542397 | GADMO27705 | ||
100710582 | ORENI59894 | ||
115583513 | SPAAU42212 |
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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