UniProt | Protein Name |
---|---|
O95528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
circulatory system development | ||
negative regulation of connective tissue growth factor production | ||
transport across blood-brain barrier |
|
|
positive regulation of transforming growth factor beta receptor signaling pathway | ||
positive regulation of proteoglycan biosynthetic process |
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:0001582 | Redundant skin |
HP:0001635 | Congestive heart failure |
HP:0001637 | Abnormal myocardium morphology |
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0001644 | Dilated cardiomyopathy |
HP:0001650 | Aortic valve stenosis |
HP:0001658 | Myocardial infarction |
HP:0001659 | Aortic regurgitation |
HP:0001695 | Cardiac arrest |
HP:0001714 | Ventricular hypertrophy |
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