UniProt | Protein Name |
---|---|
Q9BT40 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of protein kinase activity | ||
negative regulation of peptidyl-serine phosphorylation | ||
actin cytoskeleton organization |
|
|
regulation of glycogen biosynthetic process | ||
G protein-coupled receptor signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | ||
inositol trisphosphate phosphatase activity | ||
phosphatidylinositol trisphosphate phosphatase activity | ||
inositol bisphosphate phosphatase activity | ||
phosphatidylinositol phosphate 5-phosphatase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0050629 | Aicardi-Goutieres syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060255 | rippling muscle disease 2 | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000135 | Hypogonadism |
HP:0000252 | Microcephaly |
HP:0000486 | Strabismus |
HP:0000518 | Cataract |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000768 | Pectus carinatum |
HP:0001156 | Brachydactyly |
HP:0001167 | Abnormal finger morphology |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
177970 | WB:WBGene00012016 | ||
183643 | WB:WBGene00086546 | ||
32629 | FB:FBgn0030761 | ||
36911 | FB:FBgn0034179 | ||
103180576 | CALMI20696 | ||
102349489 | LATCH05930 | ||
100037338 | ZFIN:ZDB-GENE-070410-101 | DANRE08998 | |
566188 | ZFIN:ZDB-GENE-100408-3 | ||
103044237 | ASTMX13729 | ||
108277943 | ICTPU09831 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024