UniProt | Protein Name |
---|---|
P98161 |
|
GO Term | Evidence Code | PMID |
---|---|---|
genitalia development | ||
receptor signaling pathway via JAK-STAT | ||
cartilage development | ||
homophilic cell adhesion via plasma membrane adhesion molecules |
|
|
digestive tract development |
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:0050876 | Caroli disease | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0070115 | Meckel syndrome 1 | |
DOID:0070116 | Meckel syndrome 2 | |
DOID:0070117 | Meckel syndrome 3 | |
DOID:0070118 | Meckel syndrome 4 | |
DOID:0070119 | Meckel syndrome 5 | |
DOID:0070120 | Meckel syndrome 6 |
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