UniProt | Protein Name |
---|---|
Q9BT40 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of glycogen (starch) synthase activity | ||
glucose homeostasis | ||
cellular response to hormone stimulus | ||
positive regulation of DNA-templated transcription | ||
negative regulation of dephosphorylation |
GO Term | Evidence Code | PMID |
---|---|---|
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | ||
inositol-1,4,5-trisphosphate 5-phosphatase activity | ||
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | ||
vasopressin receptor activity | ||
lipid phosphatase activity |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0080195 | Marinesco-Sjogren syndrome | |
DOID:0080197 | congenital muscular dystrophy with cataracts and intellectual disability | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 | |
DOID:0110039 | Alzheimer's disease 7 | |
DOID:0110041 | Alzheimer's disease 8 |
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 |
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Last updated: August 19, 2024