Gene Gene information from NCBI Gene database.
Entrez ID 5150
Gene name Phosphodiesterase 7A
Gene symbol PDE7A
Synonyms (NCBI Gene)
HCP1PDE7
Chromosome 8
Chromosome location 8q13.1
Summary The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular sign
miRNA miRNA information provided by mirtarbase database.
325
miRTarBase ID miRNA Experiments Reference
MIRT632617 hsa-miR-6871-5p HITS-CLIP 23824327
MIRT632616 hsa-miR-383-3p HITS-CLIP 23824327
MIRT634447 hsa-miR-4284 HITS-CLIP 23824327
MIRT634446 hsa-miR-24-3p HITS-CLIP 23824327
MIRT634445 hsa-miR-7106-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ETS2 Unknown 12737631
NFKB1 Unknown 12737631
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0004112 Function Cyclic-nucleotide phosphodiesterase activity IEA
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IBA
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IDA 8389765, 8943082, 9195912
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
171885 8791 ENSG00000205268
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13946
Protein name High affinity 3',5'-cyclic-AMP phosphodiesterase 7A (EC 3.1.4.53) (HCP1) (TM22) (cAMP-specific phosphodiesterase 7A)
Protein function Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:19350606, PubMed:8389765, PubMed:9195912). May have a role in muscle signal transduction (PubMed:9195912). {ECO:0000269|PubMed:19350
PDB 1ZKL , 3G3N , 4PM0 , 4Y2B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00233 PDEase_I 211 444 Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform PDE7A1]: Found at high levels in skeletal muscle and at low levels in a variety of tissues including brain and heart (PubMed:9195912). It is expressed as well in two T-cell lines (PubMed:9195912). {ECO:0000269|PubMed:9195912}.
Sequence
MEVCYQLPVLPLDRPVPQHVLSRRGAISFSSSSALFGCPNPRQLSQRRGAISYDSSDQTA
LYIRMLGDVRVRSRAGFESERRGSHPYIDFRIFHSQSEIEVSVSARNIRRLLSFQRYLRS
SRFFRGTAVSNSLNILDDDYNGQAKCMLEKVGNWNFDIFLFDRLTNGNSLVSLTFHLFSL
HGLIEYFHLDMMKLRRFLVMIQEDYHSQNPYHNAVHAADVTQAMHCYLKEPKLANSVTPW
DILLSLIAAATHDLDHPGVNQPFLIKTNHYLATLYKNTSVLENHHWRSAVGLLRESGLFS
HLPLESRQQMETQIGALILATDISRQNEYLSLFRSHLDRGDLCLEDTRHRHLVLQMALKC
ADICNPCRTWELSKQWSEKVTEEFFHQGDIEKKYHLGVSPLCDRHTESIANIQIGFMTYL
VEPLFTEWARFSNTRLSQTMLGHV
GLNKASWKGLQREQSSSEDTDAAFELNSQLLPQENR
LS
Sequence length 482
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Metabolic pathways
Morphine addiction
  G alpha (s) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 31123752
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 31123752
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 22054870
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 12388353, 22054870, 31123752
★☆☆☆☆
Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell Associate 19033455, 28867658
★☆☆☆☆
Found in Text Mining only
Nerve Degeneration Associate 22054870
★☆☆☆☆
Found in Text Mining only