• Gene id: 5152

Gene Summary

• Gene Symbol: PDE9A   Gene   UCSC   Ensembl
• Aliases: HSPDE9A2
• Gene name: phosphodiesterase 9A
• Alternate names: high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A, CGMP-specific 3',5'-cyclic phosphodiesterase type 9, phosphodiesterase PDE9A21,
• Gene location: 21q22.3 (42653620: 42775508)     Exons: 25     NC_000021.9
• Gene summary(Entrez): The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple t
• OMIM: 602973

Protein Summary

• Protein general information: O76083  
  • Name: High affinity cGMP specific 3',5' cyclic phosphodiesterase 9A (EC 3.1.4.35)
  • Length: 593  
  • Mass: 68493
  • Tissue specificity: Expressed in all tissues examined (testis, brain, small intestine, skeletal muscle, heart, lung, thymus, spleen, placenta, kidney, liver, pancreas, ovary and prostate) except blood (PubMed
• Sequence:

  MGSGSSSYRPKAIYLDIDGRIQKVIFSKYCNSSDIMDLFCIATGLPRNTTISLLTTDDAMVSIDPTMPANSERTP
  YKVRPVAIKQLSAGVEDKRTTSRGQSAERPLRDRRVVGLEQPRREGAFESGQVEPRPREPQGCYQEGQRIPPERE
  ELIQSVLAQVAEQFSRAFKINELKAEVANHLAVLEKRVELEGLKVVEIEKCKSDIKKMREELAARSSRTNCPCKY
  SFLDNHKKLTPRRDVPTYPKYLLSPETIEALRKPTFDVWLWEPNEMLSCLEHMYHDLGLVRDFSINPVTLRRWLF
  CVHDNYRNNPFHNFRHCFCVAQMMYSMVWLCSLQEKFSQTDILILMTAAICHDLDHPGYNNTYQINARTELAVRY
  NDISPLENHHCAVAFQILAEPECNIFSNIPPDGFKQIRQGMITLILATDMARHAEIMDSFKEKMENFDYSNEEHM
  TLLKMILIKCCDISNEVRPMEVAEPWVDCLLEEYFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFVLIPMF
  ETVTKLFPMVEEIMLQPLWESRDRYEELKRIDDAMKELQKKTDSLTSGATEKSRERSRDVKNSEGDCA

• Structural information:
  • Protein Domains: (236..55-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003607  IPR023088  IPR002073  IPR036971  IPR023174  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • PDB: 2HD1 2YY2 3DY8 3DYL 3DYN 3DYQ 3DYS 3JSI 3JSW 3K3E 3K3H 3N3Z 3QI3 3QI4 4E90 4G2J 4G2L 4GH6 4Y86 4Y87 4Y8C 6A3N
  • PDBsum: 2HD1 2YY2 3DY8 3DYL 3DYN 3DYQ 3DYS 3JSI 3JSW 3K3E 3K3H 3N3Z 3QI3 3QI4 4E90 4G2J 4G2L 4GH6 4Y86 4Y87 4Y8C 6A3N
  • STRING: ENSP00000291539
• Other Databases: GeneCards:  PDE9A  Malacards:  PDE9A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IBA	molecular function
GO:0019934	cGMP-mediated signaling	IBA	biological process
GO:0046069	cGMP catabolic process	IBA	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IDA	molecular function
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IDA	molecular function
GO:0042383	sarcolemma	IDA	cellular component
GO:0046069	cGMP catabolic process	IDA	biological process
GO:0046068	cGMP metabolic process	IDA	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019934	cGMP-mediated signaling	IEA	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0010613	positive regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0043204	perikaryon	IEA	cellular component
GO:0046069	cGMP catabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0046069	cGMP catabolic process	IEA	biological process
GO:0005829	cytosol	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray