GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | ||
cell surface receptor signaling pathway | ||
cellular response to reactive oxygen species |
|
|
metanephric cortical collecting duct development | ||
cellular response to hydrostatic pressure |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
cytoplasmic side of endoplasmic reticulum membrane | ||
plasma membrane | ||
lamellipodium | ||
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
cytoskeletal protein binding | ||
ATPase binding | ||
monoatomic cation channel activity | ||
calcium channel activity | ||
muscle alpha-actinin binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:4676 | uremia | |
DOID:4766 | embryoma | |
DOID:0050424 | familial adenomatous polyposis | |
DOID:0050156 | idiopathic pulmonary fibrosis | |
DOID:0050646 | distal arthrogryposis | |
DOID:0050770 | polycystic liver disease | |
DOID:0050771 | pheochromocytoma | |
DOID:0050778 | Meckel syndrome | |
DOID:0050820 | atrioventricular block | |
DOID:0050997 | cerebellar ataxia, mental retardation and dysequlibrium syndrome |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000010 | Recurrent urinary tract infections |
HP:0000083 | Renal insufficiency |
HP:0000105 | Enlarged kidney |
HP:0000107 | Renal cyst |
HP:0000113 | Polycystic kidney dysplasia |
HP:0000324 | Facial asymmetry |
HP:0000790 | Hematuria |
HP:0000791 | Uric acid nephrolithiasis |
HP:0000822 | Hypertension |
Disease ID | Disease Name |
---|---|
ORPHA:730 |
|
OMIM:613095 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100016662 | MONDO27201 | ||
102448832 | PELSI02110 | ||
100567525 | ANOCA07151 | ||
114036745 | VOMUR23927 | ||
113894147 | BOBOX04044 | ||
102535784 | VICPA05851 | ||
100959121 | OTOGA11744 | ||
101066957 | TAKRU17964 | ||
105706982 | AOTNA10741 | ||
110209698 | PHACI31754 |
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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