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:0110432 | dilated cardiomyopathy 1NN | |
DOID:0110433 | dilated cardiomyopathy 1E | |
DOID:0110434 | dilated cardiomyopathy 1Z | |
DOID:0110435 | dilated cardiomyopathy 1GG | |
DOID:0110436 | dilated cardiomyopathy 1L | |
DOID:0110437 | dilated cardiomyopathy 1K | |
DOID:0110438 | dilated cardiomyopathy 1JJ | |
DOID:0110439 | dilated cardiomyopathy 1P | |
DOID:0110441 | dilated cardiomyopathy 2B | |
DOID:0110442 | dilated cardiomyopathy 1Q |
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