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 |
---|---|---|
basolateral plasma 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:0050328 | congenital hypothyroidism | |
DOID:0050336 | hypophosphatemia | |
DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
DOID:0050445 | X-linked dominant hypophosphatemic rickets | |
DOID:0050486 | exanthem | |
DOID:0050644 | arterial calcification of infancy | |
DOID:0050782 | Zollinger-Ellison syndrome | |
DOID:0050830 | peripheral artery disease | |
DOID:0050948 | autosomal dominant hypophosphatemic rickets | |
DOID:0050949 | autosomal recessive hypophosphatemic rickets |
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 |
---|---|---|---|
179663 | WB:WBGene00007753 | ||
179665 | WB:WBGene00007755 | ||
562399 | ZFIN:ZDB-GENE-040724-172 | DANRE19528 | |
113571927 | ELEEL04137 | ||
115175006 | SALTR54147 | ||
115195902 | SALTR24351 | ||
115574330 | SPAAU61186 | ||
100462923 | Xenbase:XB-GENE-6492363 | ||
101931046 | CHRPI34462 | ||
109312021 | CROPO09656 |
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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