UniProt | Protein Name |
---|---|
P98161 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cartilage condensation | ||
cell-matrix adhesion |
|
|
neural tube development | ||
regulation of G1/S transition of mitotic cell cycle | ||
anatomical structure 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:4450 | renal cell carcinoma | |
DOID:4451 | renal carcinoma | |
DOID:4467 | clear cell renal cell carcinoma | |
DOID:4676 | uremia | |
DOID:468 | intramuscular hemangioma | |
DOID:4702 | mongolian spot | |
DOID:474 | histiocytoid hemangioma | |
DOID:4766 | embryoma | |
DOID:4783 | mesangial proliferative glomerulonephritis | |
DOID:483 | cavernous hemangioma |
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 |
---|---|---|---|
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