UniProt | Protein Name |
---|---|
P22413 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of glucose import | ||
negative regulation of hh target transcription factor activity | ||
intracellular phosphate ion homeostasis | ||
response to ATP | ||
negative regulation of glycogen biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
cell surface | ||
plasma membrane | ||
extracellular space | ||
membrane | ||
lysosomal membrane |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatase activity | ||
zinc ion binding | ||
protein homodimerization activity | ||
3',5'-cyclic-AMP phosphodiesterase activity | ||
ATP diphosphatase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060249 | scoliosis | |
DOID:0060887 | ossification of the posterior longitudinal ligament of spine | |
DOID:0080001 | bone disease | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080332 | bicuspid aortic valve disease | |
DOID:0080333 | aortic valve disease 1 | |
DOID:0080334 | aortic valve disease 2 | |
DOID:0110741 | type 1 diabetes mellitus 2 | |
DOID:0110742 | type 1 diabetes mellitus 3 | |
DOID:0110743 | type 1 diabetes mellitus 4 |
HPO ID | HPO Term |
---|---|
HP:0000410 | Mixed hearing impairment |
HP:0000474 | Thickened nuchal skin fold |
HP:0000488 | Retinopathy |
HP:0000505 | Visual impairment |
HP:0000545 | Myopia |
HP:0000573 | Retinal hemorrhage |
HP:0000592 | Blue sclerae |
HP:0000630 | Abnormal retinal artery morphology |
HP:0000670 | Carious teeth |
HP:0000684 | Delayed eruption of teeth |
Disease ID | Disease Name |
---|---|
ORPHA:758 |
|
ORPHA:289176 |
|
OMIM:601665 |
|
OMIM:615522 |
|
ORPHA:51608 |
|
OMIM:613312 |
|
OMIM:208000 |
|
OMIM:125853 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
615535 | BOVIN35783 | ||
100009517 | RABIT02837 | ||
100750518 | CRIGR22581 | ||
18605 | MGI:97370 | MOUSE02168 | |
85496 | RGD:628825 | RATNO19316 | |
100726931 | CAVPO15543 | ||
101868005 | MELUD05415 | ||
100031043 | MONDO12918 | ||
102447098 | PELSI04207 | ||
100562666 | ANOCA01489 |
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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