UniProt | Protein Name |
---|---|
P98161 |
|
GO Term | Evidence Code | PMID |
---|---|---|
detection of mechanical stimulus | ||
calcium ion transmembrane transport | ||
lung epithelium development | ||
positive regulation of transcription by RNA polymerase II | ||
positive regulation of cytosolic calcium ion concentration |
GO Term | Evidence Code | PMID |
---|---|---|
calcium channel complex | ||
nucleus | ||
motile cilium | ||
endoplasmic reticulum | ||
cytoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
monoatomic cation channel activity | ||
calcium channel activity | ||
transcription regulator inhibitor activity | ||
Wnt receptor activity | ||
protein kinase binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070122 | Meckel syndrome 8 | |
DOID:0080001 | bone disease | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080212 | polycystic kidney disease 4 | |
DOID:0080322 | polycystic kidney disease | |
DOID:0080324 | tuberous sclerosis 1 | |
DOID:0080325 | tuberous sclerosis 2 | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0080522 | thyroid gland anaplastic carcinoma | |
DOID:0090053 | episodic kinesigenic dyskinesia 1 |
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:0000790 | Hematuria |
HP:0000791 | Uric acid nephrolithiasis |
HP:0000822 | Hypertension |
HP:0001407 | Hepatic cysts |
Disease ID | Disease Name |
---|---|
OMIM:173900 |
|
ORPHA:730 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100089024 | ORNAN14089 | ||
100926199 | SARHA03532 | ||
105573577 | CERAT40721 | ||
694905 | MACMU27550 | ||
105485943 | MACNE42736 | ||
105529795 | MANLE22430 | ||
100442240 | PONAB09798 | ||
606755 | CANLF16686 | ||
100470543 | AILME05238 | ||
101690539 | MUSPF14367 |
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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