UniProt | Protein Name |
---|---|
P15259 |
|
GO Term | Evidence Code | PMID |
---|---|---|
spermatogenesis | ||
Notch signaling pathway | ||
response to mercury ion | ||
canonical glycolysis | ||
glycolytic process |
GO Term | Evidence Code | PMID |
---|---|---|
bisphosphoglycerate mutase activity | ||
phosphoglycerate mutase activity | ||
hydrolase activity | ||
2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060586 | Noonan syndrome 8 | |
DOID:0060587 | Noonan syndrome 9 | |
DOID:0060588 | Noonan syndrome 10 | |
DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I | |
DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
DOID:0060764 | autosomal recessive Robinow syndrome | |
DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
DOID:0060767 | autosomal dominant Robinow syndrome 3 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0002913 | Myoglobinuria |
HP:0003198 | Myopathy |
HP:0003201 | Rhabdomyolysis |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003546 | Exercise intolerance |
HP:0003710 | Exercise-induced muscle cramps |
HP:0003738 | Exercise-induced myalgia |
Disease ID | Disease Name |
---|---|
OMIM:261670 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
42626 | FB:FBgn0038957 | ||
43447 | FB:FBgn0014869 | ||
46246 | FB:FBgn0011270 | ||
100176359 | CIOIN08261 | ||
102361919 | LATCH18881 | ||
572733 | ZFIN:ZDB-GENE-040116-6 | DANRE20886 | |
108279244 | ICTPU11863 | ||
113570710 | ELEEL08278 | ||
100194644 | SALSA15262 | ||
115159629 | SALTR70539 |
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
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024