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 |
---|---|---|
phosphodiesterase I activity | ||
UTP diphosphatase activity | ||
GTP diphosphatase activity | ||
exonuclease activity | ||
calcium ion binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:1214 | tympanosclerosis | |
DOID:1222 | cartilage disease | |
DOID:12347 | osteogenesis imperfecta | |
DOID:12678 | hypercalcemia | |
DOID:12679 | nephrocalcinosis | |
DOID:12721 | multiple epiphyseal dysplasia | |
DOID:12733 | hypercementosis | |
DOID:12804 | mucopolysaccharidosis IV | |
DOID:1287 | cardiovascular system disease | |
DOID:13072 | acquired hyperkeratosis |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000117 | Renal phosphate wasting |
HP:0000121 | Nephrocalcinosis |
HP:0000164 | Abnormality of the dentition |
HP:0000218 | High palate |
HP:0000365 | Hearing impairment |
HP:0000381 | Stapes ankylosis |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
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