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:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA | |
DOID:0070136 | autosomal dominant cutis laxa 2 | |
DOID:0070137 | autosomal recessive cutis laxa type IIB | |
DOID:0070138 | autosomal recessive cutis laxa type IIIB | |
DOID:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0070142 | autosomal dominant cutis laxa | |
DOID:0080001 | bone disease | |
DOID:0080326 | familial hypertrophic cardiomyopathy |
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 |
---|---|---|---|
123797055 | URSAM09046 | ||
122215459 | PANLE01526 | ||
101322209 | TURTR08380 | ||
118881844 | BALMU20220 | ||
100667596 | LOXAF13236 | ||
100071243 | HORSE20729 | ||
102169886 | CAPHI04315 | ||
101118547 | SHEEP04789 | ||
100774864 | CRIGR07546 | ||
170441 | MGI:2156687 | MOUSE34247 |
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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