PDE2A
entrez
5138
canonical
uniprot
O00408
canonical
ensembl
ENSG00000186642
resolver
ensp
ENSP00000334910
resolver
ensp
ENSP00000411657
resolver
ensp
ENSP00000442256
resolver
ensp
ENSP00000446399
resolver
genesymbol
PDE2A
resolver
hgnc
HGNC:8777
resolver
uniprot
B2R646
resolver
uniprot
B3KRV5
resolver
uniprot
E9PGI1
resolver
uniprot
F6W5Z0
resolver
uniprot
Q5J791
resolver
uniprot
Q5J792
resolver
uniprot
Q5J793
resolver
uniprot
Q6ZMR1
resolver
uniprot
Q8IW54
resolver
uniprot_entry
PDE2A_HUMAN
resolver
uniprot_entry
Q8IW54_HUMAN
resolver
uniprot_sec
B2R646
resolver
uniprot_sec
B3KRV5
resolver
uniprot_sec
E9PGI1
resolver
uniprot_sec
F6W5Z0
resolver
uniprot_sec
Q5J791
resolver
uniprot_sec
Q5J792
resolver
uniprot_sec
Q5J793
resolver
uniprot_sec
Q6ZMR1
resolver
activity_regulation
ACTIVITY REGULATION: The 3',5'-cyclic-AMP phosphodiesterase activity is stimulated by 3',5'-cyclic GMP. {ECO:0000269|PubMed:9210593}.
uniprot
proteins
amino_acid_sequence
MGQACGHSILCRSQQYPAARPAEPRGQQVFLKPDEPPPPPQPCADSLQDALLSLGSVIDISGLQRAVKEALSAVLPRVETVYTYLLDGESQLVCEDPPHELPQEGKVREAIISQKRLGCNGLGFSDLPGKPLARLVAPLAPDTQVLVMPLADKEAGAVAAVILVHCGQLSDNEEWSLQAVEKHTLVALRRVQVLQQRGPREAPRAVQNPPEGTAEDQKGGAAYTDRDRKILQLCGELYDLDASSLQLKVLQYLQQETRASRCCLLLVSEDNLQLSCKVIGDKVLGEEVSFPLTGCLGQVVEDKKSIQLKDLTSEDVQQLQSMLGCELQAMLCVPVISRATDQVVALACAFNKLEGDLFTDEDEHVIQHCFHYTSTVLTSTLAFQKEQKLKCECQALLQVAKNLFTHLDDVSVLLQEIITEARNLSNAEICSVFLLDQNELVAKVFDGGVVDDESYEIRIPADQGIAGHVATTGQILNIPDAYAHPLFYRGVDDSTGFRTRNILCFPIKNENQEVIGVAELVNKINGPWFSKFDEDLATAFSIYCGISIAHSLLYKKVNEAQYRSHLANEMMMYHMKVSDDEYTKLLHDGIQPVAAIDSNFASFTYTPRSLPEDDTSMAILSMLQDMNFINNYKIDCPTLARFCLMVKKGYRDPPYHNWMHAFSVSHFCYLLYKNLELTNYLEDIEIFALFISCMCHDLDHRGTNNSFQVASKSVLAALYSSEGSVMERHHFAQAIAILNTHGCNIFDHFSRKDYQRMLDLMRDIILATDLAHHLRIFKDLQKMAEVGYDRNNKQHHRLLLCLLMTSCDLSDQTKGWKTTRKIAELIYKEFFSQGDLEKAMGNRPMEMMDREKAYIPELQISFMEHIAMPIYKLLQDLFPKAAELYERVASNREHWTKVSHKFTIRGLPSNNSLDFLDEEYEVPDLDGTRAPINGCCSLDAE
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) [MIM:619150]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early-onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder. {ECO:0000269|PubMed:29392776, ECO:0000269|PubMed:32196122, ECO:0000269|PubMed:32467598}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.17
uniprot
proteins
function
FUNCTION: cGMP-activated cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15938621, PubMed:29392776, PubMed:9210593). Has a higher efficiency with cGMP compared to cAMP (PubMed:15938621). Plays a role in cell growth and migration (PubMed:24705027). {ECO:0000269|PubMed:15938621, ECO:0000269|PubMed:24705027, ECO:0000269|PubMed:29392776, ECO:0000269|PubMed:9210593}.; FUNCTION: [Isoform PDE2A2]: Regulates mitochondrial cAMP levels and respiration (By similarity). Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L (PubMed:28463107). {ECO:0000250|UniProtKB:Q922S4, ECO:0000269|PubMed:28463107}.
uniprot
proteins
mass_dalton
105717
uniprot
proteins
mutagenesis
MUTAGEN 811; /note="D->A: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. No effect on 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 812; /note="Q->I: No effect on 3',5'-cyclic-AMP phosphodiesterase activity. Decreased 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 812; /note="Q->P: Loss of 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 819; /note="T->Y: Loss of 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 826; /note="I->V: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Increased 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 827; /note="Y->A: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 827; /note="Y->F: Loss of 3',5'-cyclic-AMP phosphodiesterase activity. Decreased 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 827; /note="Y->V,M: Loss of 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 847; /note="M->L: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 858; /note="L->M: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Decreased 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 858; /note="L->S: Loss of 3',5'-cyclic-AMP phosphodiesterase activity. Decreased 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621"; MUTAGEN 907; /note="L->A: Decreased 3',5'-cyclic-AMP phosphodiesterase activity. Loss of 3',5'-cyclic-GMP phosphodiesterase activity."; /evidence="ECO:0000269|PubMed:15938621
uniprot
proteins
protein_family
Cyclic nucleotide phosphodiesterase family
uniprot
proteins
protein_family
PDE2 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15938621
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19632989
uniprot
proteins
pubmed
19828435
uniprot
proteins
pubmed
20213681
uniprot
proteins
pubmed
23899287
uniprot
proteins
pubmed
24705027
uniprot
proteins
pubmed
28463107
uniprot
proteins
pubmed
29392776
uniprot
proteins
pubmed
32196122
uniprot
proteins
pubmed
32467598
uniprot
proteins
pubmed
9210593
uniprot
proteins
sequence_length
941
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform PDE2A3]: Cell membrane {ECO:0000269|PubMed:19632989, ECO:0000269|PubMed:28463107}; Lipid-anchor {ECO:0000269|PubMed:19632989}.; SUBCELLULAR LOCATION: [Isoform PDE2A2]: Mitochondrion matrix {ECO:0000250|UniProtKB:Q922S4}. Mitochondrion inner membrane {ECO:0000269|PubMed:28463107}. Mitochondrion outer membrane {ECO:0000269|PubMed:28463107}.; SUBCELLULAR LOCATION: [Isoform PDE2A1]: Cytoplasm {ECO:0000269|PubMed:19632989, ECO:0000269|PubMed:28463107}.; SUBCELLULAR LOCATION: [Isoform 5]: Mitochondrion {ECO:0000305}.
uniprot
proteins