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:0050144 | Kartagener syndrome | |
DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | |
DOID:0050777 | Joubert syndrome | |
DOID:0050778 | Meckel syndrome | |
DOID:0050902 | medulloblastoma | |
DOID:0060216 | Cogan syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis | |
DOID:0060320 | inguinal hernia |
HPO ID | HPO Term |
---|---|
HP:0002104 | Apnea |
HP:0002126 | Polymicrogyria |
HP:0002195 | Dysgenesis of the cerebellar vermis |
HP:0002240 | Hepatomegaly |
HP:0002251 | Aganglionic megacolon |
HP:0002269 | Abnormality of neuronal migration |
HP:0002335 | Agenesis of cerebellar vermis |
HP:0002342 | Intellectual disability, moderate |
HP:0002365 | Hypoplasia of the brainstem |
HP:0002419 | Molar tooth sign on MRI |
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 |
---|---|---|---|
100699689 | ORENI10172 | ||
115581894 | SPAAU15442 | ||
100216253 | Xenbase:XB-GENE-986385 | ||
101940841 | CHRPI11071 | ||
109314015 | CROPO20300 | ||
100546617 | MELGA05302 | ||
103818950 | SERCA14433 | ||
100092732 | ORNAN21028 | ||
100930476 | SARHA15827 | ||
100399977 | CALJA18709 |
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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