phosphodiesterase 10A

Summary
Gene Symbol
  • PDE10A
Aliases
  • cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
Organism
Homo sapiens (human)
NCBI Gene
10846
HGNC
8772
PubChem
10846
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Allosteric enzyme
  • Alternative initiation
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Hydrolase
  • Metal-binding
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • cAMP-binding
  • cGMP
  • cGMP-binding
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A1B1UZR0
Q9Y233
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Phosphodiesterase
Functional Category
  • E: Amino acid transport and metabolism
  • K: Transcription
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0060998 striatal degeneration 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000726 Dementia
HP:0000739 Anxiety
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001260 Dysarthria
HP:0001268 Mental deterioration
HP:0001270 Motor delay
HP:0001300 Parkinsonism
Displaying all 4 entries
Disease ID Disease Name
ORPHA:494541
  • childhood-onset benign chorea with striatal involvement
OMIM:616922
  • striatal degeneration, autosomal dominant 2
ORPHA:494526
  • infantile-onset generalized dyskinesia with orofacial involvement
OMIM:616921
  • infantile-onset generalized dyskinesia with orofacial involvement

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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: April 7, 2025