UniProt | Protein Name |
---|---|
Q9NRR6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
biological_process | ||
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | ||
phosphatidylinositol-3-phosphate biosynthetic process | ||
phosphatidylinositol biosynthetic process |
|
|
negative regulation of translation |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi apparatus | ||
Golgi cisterna membrane | ||
Golgi membrane | ||
ruffle |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110130 | Bardet-Biedl syndrome 8 | |
DOID:0110131 | Bardet-Biedl syndrome 9 | |
DOID:0110132 | Bardet-Biedl syndrome 10 | |
DOID:0110133 | Bardet-Biedl syndrome 11 | |
DOID:0110134 | Bardet-Biedl syndrome 12 | |
DOID:0110135 | Bardet-Biedl syndrome 13 | |
DOID:0110136 | Bardet-Biedl syndrome 14 | |
DOID:0110137 | Bardet-Biedl syndrome 15 | |
DOID:0110138 | Bardet-Biedl syndrome 16 | |
DOID:0110139 | Bardet-Biedl syndrome 17 |
HPO ID | HPO Term |
---|---|
HP:0000003 | Multicystic kidney dysplasia |
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000054 | Micropenis |
HP:0000077 | Abnormality of the kidney |
HP:0000083 | Renal insufficiency |
HP:0000107 | Renal cyst |
HP:0000112 | Nephropathy |
HP:0000158 | Macroglossia |
HP:0000175 | Cleft palate |
Disease ID | Disease Name |
---|---|
ORPHA:75858 |
|
ORPHA:475 |
|
OMIM:213300 |
|
ORPHA:220493 |
|
OMIM:610156 |
|
ORPHA:1454 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105580571 | CERAT35531 | ||
102140416 | MACFA10924 | ||
710121 | MACMU12924 | ||
105471932 | MACNE30138 | ||
101025577 | PAPAN07714 | ||
105543313 | MANLE16741 | ||
101150746 | GORGO41372 | ||
100973295 | PANPA40663 | ||
748603 | PANTR45270 | ||
100445730 | PONAB36088 |
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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