UniProt | Protein Name |
---|---|
P98161 |
|
GO Term | Evidence Code | PMID |
---|---|---|
metanephric ascending thin limb development | ||
embryonic placenta development | ||
calcium ion transport | ||
spinal cord development | ||
metanephric distal tubule morphogenesis |
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:0001634 | Mitral valve prolapse |
HP:0001653 | Mitral regurgitation |
HP:0001737 | Pancreatic cysts |
HP:0002253 | Colonic diverticula |
HP:0002616 | Aortic root aneurysm |
HP:0003259 | Elevated circulating creatinine concentration |
HP:0003774 | Stage 5 chronic kidney disease |
HP:0004944 | Dilatation of the cerebral artery |
HP:0006557 | Polycystic liver disease |
HP:0007029 | Cerebral berry aneurysm |
Disease ID | Disease Name |
---|---|
OMIM:173900 |
|
ORPHA:730 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
106836276 | EQUAS28117 | ||
116814786 | CHEAB02241 | ||
105303338 | PTEVA06241 | ||
105812938 | PROCO03437 | ||
109080669 | CYPCA27426 | ||
109108304 | CYPCA30269 | ||
103752466 | NANGA19070 | ||
116451855 | CORMO04985 | ||
103252735 | CARSF19370 | ||
115607605 | STRHB10840 |
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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