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Aliases for PDE10A Gene

Aliases for PDE10A Gene

  • Phosphodiesterase 10A 2 3 5
  • CAMP And CAMP-Inhibited CGMP 3,5-Cyclic Phosphodiesterase 10A 2 3
  • DJ416F21.1 (Phosphodiesterase 10A) 3
  • Phosphodiesterase 10A1 (PDE10A1) 3
  • Phosphodiesterase 10A7 (PDE10A7) 3
  • 3,5 CAMP/CGMP Phosphodiesterase 3
  • EC 3.1.4.17 4
  • EC 3.1.4.35 4
  • LINC00473 3
  • HSPDE10A 3
  • PDE10A19 3
  • ADSD2 3
  • IOLOD 3

External Ids for PDE10A Gene

Previous GeneCards Identifiers for PDE10A Gene

  • GC06M165097
  • GC06M165618
  • GC06M165653
  • GC06M165714
  • GC06M163202

Summaries for PDE10A Gene

Entrez Gene Summary for PDE10A Gene

  • The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for PDE10A Gene

PDE10A (Phosphodiesterase 10A) is a Protein Coding gene. Diseases associated with PDE10A include Dyskinesia, Limb And Orofacial, Infantile-Onset and Striatal Degeneration, Autosomal Dominant 2. Among its related pathways are Pyrimidine metabolism (KEGG) and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include 3,5-cyclic-nucleotide phosphodiesterase activity and cGMP binding. An important paralog of this gene is PDE5A.

UniProtKB/Swiss-Prot for PDE10A Gene

  • Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate. May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the control of movement and cognition.

Tocris Summary for PDE10A Gene

  • Phosphodiesterases (PDEs) are a family of phosphohydrolyases that catalyze the hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or cGMP). PDEs regulate the second messengers by controlling their degradation.

Gene Wiki entry for PDE10A Gene

Additional gene information for PDE10A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE10A Gene

Genomics for PDE10A Gene

GeneHancer (GH) Regulatory Elements for PDE10A Gene

Promoters and enhancers for PDE10A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J165660 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 658 +324.1 324063 3.9 SIN3A FEZF1 GLI4 ZNF2 YY1 GLIS2 KLF7 SP3 YY2 ZSCAN16 PDE10A LOC105378115 GC06P165548
GH06J165983 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 650.7 +0.3 278 6.5 PKNOX1 SIN3A ZNF2 BRCA1 GLIS2 ZFP91 ZNF202 SP3 REST TSHZ1 PDE10A LINC00602 LINC00473 GC06M165803
GH06J165635 Enhancer 0.7 Ensembl ENCODE 24.8 +349.7 349686 3 SP1 RXRA SIN3A NR2F2 PDE10A RNU6-730P LOC105378115 GC06P165548
GH06J165570 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.5 +412.2 412160 7.7 ZNF493 FEZF1 ZNF2 BRCA1 YY1 ZNF213 ATF7 FOS YY2 TSHZ1 PDE10A RNU6-730P GC06P165548 LOC105378115
GH06J165774 Enhancer 0.9 Ensembl ENCODE 10.5 +211.3 211301 1.3 TFAP4 PKNOX1 JUN RAD21 YY1 HIC1 ZNF335 POLR2A ZNF366 ZNF600 LOC105378114 PDE10A ENSG00000236627
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDE10A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDE10A gene promoter:
  • N-Myc
  • IRF-2
  • FOXL1
  • POU3F2
  • Max
  • c-Myc
  • Bach1
  • E4BP4
  • AP-2alphaA

Genomic Locations for PDE10A Gene

Genomic Locations for PDE10A Gene
chr6:165,327,287-165,986,603
(GRCh38/hg38)
Size:
659,317 bases
Orientation:
Minus strand
chr6:165,740,776-166,400,091
(GRCh37/hg19)
Size:
659,316 bases
Orientation:
Minus strand

Genomic View for PDE10A Gene

Genes around PDE10A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE10A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE10A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE10A Gene

Proteins for PDE10A Gene

  • Protein details for PDE10A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y233-PDE10_HUMAN
    Recommended name:
    cAMP and cAMP-inhibited cGMP 3,5-cyclic phosphodiesterase 10A
    Protein Accession:
    Q9Y233
    Secondary Accessions:
    • Q6FHX1
    • Q9HCP9
    • Q9NTV4
    • Q9ULW9
    • Q9Y5T1

    Protein attributes for PDE10A Gene

    Size:
    779 amino acids
    Molecular mass:
    88412 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAD32596.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDE10A Gene

    Alternative splice isoforms for PDE10A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDE10A Gene

Post-translational modifications for PDE10A Gene

No data available for DME Specific Peptides for PDE10A Gene

Domains & Families for PDE10A Gene

Gene Families for PDE10A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9Y233

UniProtKB/Swiss-Prot:

PDE10_HUMAN :
  • The tandem GAF domains bind cAMP, and regulate enzyme activity. The binding of cAMP stimulates enzyme activity.
  • Belongs to the cyclic nucleotide phosphodiesterase family.
Domain:
  • The tandem GAF domains bind cAMP, and regulate enzyme activity. The binding of cAMP stimulates enzyme activity.
  • Composed of a C-terminal catalytic domain containing two divalent metal sites and an N-terminal regulatory domain which contains one cyclic nucleotide-binding region.
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family.
genes like me logo Genes that share domains with PDE10A: view

Function for PDE10A Gene

Molecular function for PDE10A Gene

UniProtKB/Swiss-Prot Function:
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate. May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the control of movement and cognition.
UniProtKB/Swiss-Prot CatalyticActivity:
Nucleoside 3,5-cyclic phosphate + H(2)O = nucleoside 5-phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Guanosine 3,5-cyclic phosphate + H(2)O = guanosine 5-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by dipyridamole and moderately by IBMX. cAMP acts as an allosteric activator.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=56 nM for cAMP {ECO:0000269 PubMed:17389385}; KM=4.4 uM for cGMP {ECO:0000269 PubMed:17389385}; Vmax=507 nmol/min/mg enzyme for cAMP {ECO:0000269 PubMed:17389385}; Vmax=1860 nmol/min/mg enzyme for cGMP {ECO:0000269 PubMed:17389385};
GENATLAS Biochemistry:
cGMP,cAMP inhibited nucleotide phosphodiesterase class10A,predominantly expressed in the putamen and caudate nucleus and in the testis

Enzyme Numbers (IUBMB) for PDE10A Gene

Phenotypes From GWAS Catalog for PDE10A Gene

Gene Ontology (GO) - Molecular Function for PDE10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004112 cyclic-nucleotide phosphodiesterase activity IEA --
GO:0004114 3,5-cyclic-nucleotide phosphodiesterase activity TAS 10373451
GO:0004115 3,5-cyclic-AMP phosphodiesterase activity TAS --
GO:0004118 cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA 19689430
genes like me logo Genes that share ontologies with PDE10A: view
genes like me logo Genes that share phenotypes with PDE10A: view

Human Phenotype Ontology for PDE10A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDE10A Gene

MGI Knock Outs for PDE10A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PDE10A

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PDE10A Gene

Localization for PDE10A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDE10A Gene

Cytoplasm. Note=Located mostly to soluble cellular fractions.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDE10A gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PDE10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0043025 neuronal cell body IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with PDE10A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PDE10A Gene

Pathways & Interactions for PDE10A Gene

genes like me logo Genes that share pathways with PDE10A: view

Pathways by source for PDE10A Gene

UniProtKB/Swiss-Prot Q9Y233-PDE10_HUMAN

  • Pathway: Purine metabolism; 3,5-cyclic AMP degradation; AMP from 3,5-cyclic AMP: step 1/1.
  • Pathway: Purine metabolism; 3,5-cyclic GMP degradation; GMP from 3,5-cyclic GMP: step 1/1.

SIGNOR curated interactions for PDE10A Gene

Other effect:

Gene Ontology (GO) - Biological Process for PDE10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006198 cAMP catabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0008152 metabolic process IEA --
GO:0010738 regulation of protein kinase A signaling IEA --
genes like me logo Genes that share ontologies with PDE10A: view

Drugs & Compounds for PDE10A Gene

(20) Drugs for PDE10A Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dipyridamole Approved Pharma Inhibition, Inhibitor, inhibitor, Target Adenosine transport inhibitor 84
Papaverine Approved, Investigational Pharma Target, inhibitor 20
Tofisopam Approved Pharma Target, inhibitor 2
Trapidil Approved Pharma Target, inhibitor 1
Triflusal Approved, Investigational Pharma Target, antagonist 6

(5) Additional Compounds for PDE10A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Eggmanone
505068-32-6
Etazolate hydrochloride
35838-58-5
IBMX
Antagonist 28822-58-4
MY-5445
78351-75-4
Ro 20-1724
29925-17-5

(5) Tocris Compounds for PDE10A Gene

Compound Action Cas Number
Eggmanone Potent and selective PDE4 inhibitor; suppresses hedgehog signaling 505068-32-6
Etazolate hydrochloride PDE4 inhibitor 35838-58-5
IBMX PDE inhibitor (non-selective) 28822-58-4
MY-5445 PDE5 inhibitor 78351-75-4
Ro 20-1724 PDE4 inhibitor 29925-17-5
genes like me logo Genes that share compounds with PDE10A: view

Transcripts for PDE10A Gene

Unigene Clusters for PDE10A Gene

Phosphodiesterase 10A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE10A Gene

No ASD Table

Relevant External Links for PDE10A Gene

GeneLoc Exon Structure for
PDE10A
ECgene alternative splicing isoforms for
PDE10A

Expression for PDE10A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDE10A Gene

mRNA differential expression in normal tissues according to GTEx for PDE10A Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x12.4), Brain - Caudate (basal ganglia) (x10.2), and Brain - Nucleus accumbens (basal ganglia) (x6.0).

Protein differential expression in normal tissues from HIPED for PDE10A Gene

This gene is overexpressed in Lung (37.6) and Fetal Brain (26.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDE10A Gene



Protein tissue co-expression partners for PDE10A Gene

NURSA nuclear receptor signaling pathways regulating expression of PDE10A Gene:

PDE10A

SOURCE GeneReport for Unigene cluster for PDE10A Gene:

Hs.348762

mRNA Expression by UniProt/SwissProt for PDE10A Gene:

Q9Y233-PDE10_HUMAN
Tissue specificity: Abundant in the putamen and caudate nucleus regions of brain and testis, moderately expressed in the thyroid gland, pituitary gland, thalamus and cerebellum.

Evidence on tissue expression from TISSUES for PDE10A Gene

  • Nervous system(4.5)
  • Intestine(4)
  • Lung(4)
genes like me logo Genes that share expression patterns with PDE10A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE10A Gene

Orthologs for PDE10A Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE10A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDE10A 34 33
  • 99.54 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE10A 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE10A 34 33
  • 91.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDE10A 34 33
  • 87.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pde10a 16 34 33
  • 86.38 (n)
rat
(Rattus norvegicus)
Mammalia Pde10a 33
  • 85.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PDE10A 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE10A 34 33
  • 83.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE10A 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde10a 33
  • 78.15 (n)
zebrafish
(Danio rerio)
Actinopterygii pde10a 34 33
  • 76.65 (n)
OneToOne
zgc56689 33
worm
(Caenorhabditis elegans)
Secernentea pde-5 34 33
  • 51.69 (n)
OneToOne
C32E12.2 35
  • 47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for PDE10A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDE10A Gene

ENSEMBL:
Gene Tree for PDE10A (if available)
TreeFam:
Gene Tree for PDE10A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDE10A: view image

Paralogs for PDE10A Gene

(3) SIMAP similar genes for PDE10A Gene using alignment to 1 proteins:

  • PDE10_HUMAN
genes like me logo Genes that share paralogs with PDE10A: view

Variants for PDE10A Gene

Sequence variations from dbSNP and Humsavar for PDE10A Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs778899140 pathogenic, Dyskinesia, limb and orofacial, infantile-onset, Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921] 165,450,268(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs875989839 pathogenic, Dyskinesia, limb and orofacial, infantile-onset, Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921] 165,450,242(-) C/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs875989840 pathogenic, Striatal degeneration, autosomal dominant 2, Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922] 165,416,280(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs875989841 pathogenic, Striatal degeneration, autosomal dominant 2, Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922] 165,418,735(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs61733392 uncertain-significance, not provided 165,395,227(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PDE10A Gene

Variant ID Type Subtype PubMed ID
dgv399n21 CNV gain 19592680
dgv790n27 CNV loss 19166990
esv1728655 CNV insertion 17803354
esv25375 CNV loss 19812545
esv2636877 CNV insertion 19546169
esv275086 CNV loss 21479260
esv2762630 CNV loss 21179565
esv2762631 CNV gain 21179565
esv2763609 CNV loss 21179565
esv33295 CNV gain 17666407
esv3571526 CNV loss 25503493
esv3571527 CNV loss 25503493
esv3571528 CNV loss 25503493
esv3611618 CNV loss 21293372
esv3611619 CNV gain 21293372
esv3611620 CNV loss 21293372
esv3611621 CNV loss 21293372
esv3611622 CNV loss 21293372
esv3611623 CNV gain 21293372
nsv1074444 CNV deletion 25765185
nsv1114895 CNV deletion 24896259
nsv464136 CNV loss 19166990
nsv472065 CNV novel sequence insertion 20440878
nsv478672 CNV novel sequence insertion 20440878
nsv508438 CNV deletion 20534489
nsv510061 OTHER sequence alteration 20534489
nsv522249 CNV loss 19592680
nsv523862 CNV loss 19592680
nsv523973 CNV loss 19592680
nsv5586 CNV deletion 18451855
nsv5588 CNV insertion 18451855
nsv605245 CNV gain 21841781
nsv605252 CNV loss 21841781
nsv605253 CNV loss 21841781
nsv605254 CNV loss 21841781
nsv818468 CNV gain 17921354
nsv823925 CNV gain 20364138
nsv830863 CNV gain 17160897

Variation tolerance for PDE10A Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 26.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDE10A Gene

Human Gene Mutation Database (HGMD)
PDE10A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE10A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE10A Gene

Disorders for PDE10A Gene

MalaCards: The human disease database

(4) MalaCards diseases for PDE10A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PDE10_HUMAN
  • Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921]: An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. {ECO:0000269 PubMed:27058446}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922]: An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis. {ECO:0000269 PubMed:27058447}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PDE10A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDE10A: view

No data available for Genatlas for PDE10A Gene

Publications for PDE10A Gene

  1. Cloning and characterization of a novel human phosphodiesterase that hydrolyzes both cAMP and cGMP (PDE10A). (PMID: 10373451) Fujishige K … Omori K (The Journal of biological chemistry 1999) 2 3 4 25 58
  2. The human phosphodiesterase PDE10A gene genomic organization and evolutionary relatedness with other PDEs containing GAF domains. (PMID: 10998054) Fujishige K … Omori K (European journal of biochemistry 2000) 3 4 22 58
  3. Isolation and characterization of PDE10A, a novel human 3', 5'-cyclic nucleotide phosphodiesterase. (PMID: 10393245) Loughney K … Florio VA (Gene 1999) 3 4 22 58
  4. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. (PMID: 27058447) Mencacci NE … Bhatia KP (American journal of human genetics 2016) 3 4 58
  5. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. (PMID: 27058446) Diggle CP … Brandon NJ (American journal of human genetics 2016) 3 4 58

Products for PDE10A Gene

Sources for PDE10A Gene

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