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:0110443 | dilated cardiomyopathy 1B | |
DOID:0110444 | dilated cardiomyopathy 1X | |
DOID:0110445 | dilated cardiomyopathy 1KK | |
DOID:0110446 | dilated cardiomyopathy 1W | |
DOID:0110447 | dilated cardiomyopathy 1DD | |
DOID:0110448 | dilated cardiomyopathy 1HH | |
DOID:0110449 | dilated cardiomyopathy 1M | |
DOID:0110450 | dilated cardiomyopathy 1II | |
DOID:0110451 | dilated cardiomyopathy 1O | |
DOID:0110452 | dilated cardiomyopathy 1T |
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 |
---|---|---|---|
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