Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10846
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphodiesterase 10A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDE10A
Synonyms (NCBI Gene) Gene synonyms aliases
ADSD2, HSPDE10A, IOLOD, LINC00473, PDE10A19
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
Summary Summary of gene provided in NCBI Entrez 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 co
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61733392 G>C Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs778899140 T>C Pathogenic, likely-pathogenic Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs875989839 C>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs875989840 A>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs875989841 A>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT521992 hsa-miR-7151-5p HITS-CLIP 21572407
MIRT509235 hsa-miR-6867-5p HITS-CLIP 21572407
MIRT509234 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT509233 hsa-miR-1287-3p HITS-CLIP 21572407
MIRT509238 hsa-miR-5011-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0004112 Function Cyclic-nucleotide phosphodiesterase activity IEA
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity TAS 10373451
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610652 8772 ENSG00000112541
Protein
UniProt ID Q9Y233
Protein name cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A (EC 3.1.4.17)
Protein function Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides (PubMed:10373451, PubMed:10393245, PubMed:16330539, PubMed:17389385, PubMed:27058447). Can hydrolyze both cAMP and cGMP, but has higher affin
PDB 2OUN , 2OUP , 2OUQ , 2OUR , 2OUS , 2OUU , 2OUV , 2OUY , 2WEY , 2Y0J , 2ZMF , 3SN7 , 3SNI , 3SNL , 3UI7 , 3UUO , 3WI2 , 3WS8 , 3WS9 , 3WYK , 3WYL , 3WYM , 4AEL , 4AJD , 4AJF , 4AJG , 4AJM , 4BBX , 4DDL , 4DFF , 4FCB , 4FCD , 4HEU , 4HF4 , 4LKQ , 4LLJ , 4LLK , 4LLP , 4LLX , 4LM0 , 4LM1 , 4LM2 , 4LM3 , 4LM4 , 4MRW , 4MRZ , 4MS0 , 4MSA , 4MSC , 4MSE , 4MSH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01590 GAF 91 235 GAF domain Domain
PF01590 GAF 266 412 GAF domain Domain
PF00233 PDEase_I 514 746 Domain
Tissue specificity 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. {ECO:0000269|PubMed:10373451, ECO:0000269|PubMed:27058447}.
Sequence
Sequence length 779
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Metabolic pathways
cAMP signaling pathway
Morphine addiction
  cGMP effects
G alpha (s) signalling events
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Generalized Dyskinesia With Orofacial Involvement infantile-onset generalized dyskinesia with orofacial involvement rs778899140, rs875989839, rs1554258695, rs1332740547 N/A
Striatal Degeneration striatal degeneration, autosomal dominant 2 rs875989840, rs875989841, rs1554258695 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Benign Chorea With Striatal Involvement childhood-onset benign chorea with striatal involvement N/A N/A GenCC
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 22773346
Autism Spectrum Disorder Associate 27404287
Bipolar Disorder Associate 22205951, 23032945, 26905414
Carcinogenesis Associate 27939638
Carcinoma Associate 34120511
Carcinoma Non Small Cell Lung Associate 27939638
Carcinoma Ovarian Epithelial Associate 36324187
Chorea Associate 36054588
Colonic Neoplasms Associate 24704829
Colorectal Neoplasms Associate 26713600