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:0110140 | Bardet-Biedl syndrome 18 | |
DOID:0110141 | Bardet-Biedl syndrome 19 | |
DOID:0110213 | isolated cleft palate | |
DOID:0110594 | primary ciliary dyskinesia 1 | |
DOID:0110861 | autosomal recessive polycystic kidney disease | |
DOID:0110980 | Joubert syndrome 1 | |
DOID:10426 | Klippel-Feil syndrome | |
DOID:10487 | Hirschsprung's disease | |
DOID:1056 | oculocerebrorenal syndrome | |
DOID:1059 | intellectual disability |
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 |
---|---|---|---|
506349 | BOVIN03417 | ||
102172073 | CAPHI02578 | ||
105995602 | DIPOR20386 | ||
100759837 | CRIGR21132 | ||
64436 | MGI:1927753 | MOUSE35589 | |
114089 | RGD:620478 | RATNO27251 | |
100715053 | CAVPO09647 | ||
101567270 | OCTDE18907 | ||
101701719 | HETGA22345 | ||
102446991 | PELSI12724 |
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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