fructose-bisphosphatase 2

Summary
Gene Symbol
  • FBP2
Organism
Homo sapiens (human)
External Links
NCBI Gene
8789
HGNC
3607
KEGG Gene ID
hsa:8789
PubChem
8789
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Allosteric enzyme
  • Calcium
  • Carbohydrate metabolism
  • Cell junction
  • Cytoplasm
  • Disease variant
  • Gluconeogenesis
  • Hydrolase
  • Leukodystrophy
  • Magnesium
  • Metal-binding
  • Nucleus
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
O00757
  • D-fructose-1,6-bisphosphate 1-phosphohydrolase 2
  • Muscle FBPase
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K03841
Name
fructose-1,6-bisphosphatase I [EC:3.1.3.11]
References
Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:10534 stomach cancer
DOID:1115 sarcoma
DOID:1206 Rett syndrome
DOID:162 cancer
DOID:1700 X-linked ichthyosis
DOID:4235 spindle cell sarcoma
DOID:5517 stomach carcinoma
DOID:6193 epithelioid sarcoma
The Human Phenotype Ontology
Displaying all 8 entries
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000737 Irritability
HP:0001288 Gait disturbance
HP:0002415 Leukodystrophy
HP:0002500 Abnormal cerebral white matter morphology
HP:0003593 Infantile onset
HP:0007359 Focal-onset seizure
HP:0011968 Feeding difficulties
Displaying 1 entry
Disease ID Disease Name
OMIM:619864
  • leukodystrophy, childhood-onset, remitting

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024