GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol 3-kinase/protein kinase B signal transduction | ||
exocytosis |
|
|
phosphatidylinositol-3-phosphate biosynthetic process | ||
phosphatidylinositol biosynthetic process |
|
|
clathrin coat assembly |
|
GO Term | Evidence Code | PMID |
---|---|---|
clathrin-coated vesicle | ||
plasma membrane | ||
phosphatidylinositol 3-kinase complex | ||
membrane | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
1-phosphatidylinositol-3-kinase activity | ||
1-phosphatidylinositol-4-phosphate 3-kinase activity | ||
phosphatidylinositol binding | ||
1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | ||
ATP binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000104 | Renal agenesis |
HP:0000121 | Nephrocalcinosis |
HP:0000158 | Macroglossia |
HP:0000164 | Abnormality of the dentition |
HP:0000278 | Retrognathia |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
HP:0000294 | Low anterior hairline |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
181618 | WB:WBGene00009552 | ||
39329 | FB:FBgn0015278 | ||
103174900 | CALMI06426 | ||
102346693 | LATCH17395 | ||
571356 | ZFIN:ZDB-GENE-030328-39 | DANRE49790 | |
113576605 | ELEEL19029 | ||
105018471 | ESOLU57744 | ||
106584631 | SALSA86476 | ||
115192791 | SALTR31003 | ||
115197088 | SALTR12683 |
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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