• Gene id: 5139

Gene Summary

• Gene Symbol: PDE3A   Gene   UCSC   Ensembl
• Aliases: CGI-PDE, CGI-PDE A, CGI-PDE-A, HTNB
• Gene name: phosphodiesterase 3A
• Alternate names: cGMP-inhibited 3',5'-cyclic phosphodiesterase A, cAMP phosphodiesterase, myocardial cGMP-inhibited, cyclic GMP-inhibited phosphodiesterase A, phosphodiesterase 3A, cGMP-inhibited,
• Gene location: 12p12.2 (20368536: 20688582)     Exons: 7     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellul
• OMIM: 123805

SNPs

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

rs1801133

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11796321G>A
NC_000001.11   g.11796321G>C
NC_000001.10   g.11856378G>A
NC_000001.10   g.11856378G>C
NG_013351.1   g.14783C>T
NG_013351.1   g.14783C>G
NM_005957.5   c.665C>T
NM_005957.5   c.665C>G
NM_005957.4   c.665C>T
NM_005957.4   c.665C>G
NM_001330358  

Protein Summary

• Protein general information: Q14432  
  • Name: cGMP inhibited 3',5' cyclic phosphodiesterase A (EC 3.1.4.17) (Cyclic GMP inhibited phosphodiesterase A) (CGI PDE A)
  • Length: 1141  
  • Mass: 124979
• Sequence:

  MAVPGDAARVRDKPVHSGVSQAPTAGRDCHHRADPASPRDSGCRGCWGDLVLQPLRSSRKLSSALCAGSLSFLLA
  LLVRLVRGEVGCDLEQCKEAAAAEEEEAAPGAEGGVFPGPRGGAPGGGARLSPWLQPSALLFSLLCAFFWMGLYL
  LRAGVRLPLAVALLAACCGGEALVQIGLGVGEDHLLSLPAAGVVLSCLAAATWLVLRLRLGVLMIALTSAVRTVS
  LISLERFKVAWRPYLAYLAGVLGILLARYVEQILPQSAEAAPREHLGSQLIAGTKEDIPVFKRRRRSSSVVSAEM
  SGCSSKSHRRTSLPCIPREQLMGHSEWDHKRGPRGSQSSGTSITVDIAVMGEAHGLITDLLADPSLPPNVCTSLR
  AVSNLLSTQLTFQAIHKPRVNPVTSLSENYTCSDSEESSEKDKLAIPKRLRRSLPPGLLRRVSSTWTTTTSATGL
  PTLEPAPVRRDRSTSIKLQEAPSSSPDSWNNPVMMTLTKSRSFTSSYAISAANHVKAKKQSRPGALAKISPLSSP
  CSSPLQGTPASSLVSKISAVQFPESADTTAKQSLGSHRALTYTQSAPDLSPQILTPPVICSSCGRPYSQGNPADE
  PLERSGVATRTPSRTDDTAQVTSDYETNNNSDSSDIVQNEDETECLREPLRKASACSTYAPETMMFLDKPILAPE
  PLVMDNLDSIMEQLNTWNFPIFDLVENIGRKCGRILSQVSYRLFEDMGLFEAFKIPIREFMNYFHALEIGYRDIP
  YHNRIHATDVLHAVWYLTTQPIPGLSTVINDHGSTSDSDSDSGFTHGHMGYVFSKTYNVTDDKYGCLSGNIPALE
  LMALYVAAAMHDYDHPGRTNAFLVATSAPQAVLYNDRSVLENHHAAAAWNLFMSRPEYNFLINLDHVEFKHFRFL
  VIEAILATDLKKHFDFVAKFNGKVNDDVGIDWTNENDRLLVCQMCIKLADINGPAKCKELHLQWTDGIVNEFYEQ
  GDEEASLGLPISPFMDRSAPQLANLQESFISHIVGPLCNSYDSAGLMPGKWVEDSDESGDTDDPEEEEEEAPAPN
  EEETCENNESPKKKTFKRRKIYCQITQHLLQNHKMWKKVIEEEQRLAGIENQSLDQTPQSHSSEQIQAIKEEEEE
  KGKPRGEEIPTQKPDQ

• Structural information:
  • Protein Domains: (674..109-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003607  IPR002073  IPR036971  IPR023174  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • PDB: 1LRC
  • PDBsum: 1LRC
  • DIP: 42197
  • STRING: ENSP00000351957
• Other Databases: GeneCards:  PDE3A  Malacards:  PDE3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001556	oocyte maturation	IBA	biological process
GO:0004115	3',5'-cyclic-AMP phosphodiesterase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0019933	cAMP-mediated signaling	IBA	biological process
GO:0019934	cGMP-mediated signaling	IBA	biological process
GO:0043951	negative regulation of cAMP-mediated signaling	IBA	biological process
GO:0060282	positive regulation of oocyte development	IBA	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:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004119	cGMP-inhibited cyclic-nucleotide phosphodiesterase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0001556	oocyte maturation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004115	3',5'-cyclic-AMP phosphodiesterase activity	IEA	molecular function
GO:0001556	oocyte maturation	IEA	biological process
GO:0043951	negative regulation of cAMP-mediated signaling	IEA	biological process
GO:0060282	positive regulation of oocyte development	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0040020	regulation of meiotic nuclear division	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071321	cellular response to cGMP	IDA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEP	biological process
GO:0043116	negative regulation of vascular permeability	IMP	biological process
GO:0019933	cAMP-mediated signaling	IMP	biological process
GO:0043117	positive regulation of vascular permeability	IMP	biological process
GO:0019934	cGMP-mediated signaling	IMP	biological process
GO:0043951	negative regulation of cAMP-mediated signaling	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa00230	Purine metabolism
hsa05032	Morphine addiction
hsa04924	Renin secretion

Diseases

Associated diseases	References
Brachydactyly	KEGG:H00482
Brachydactyly	KEGG:H00482
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
19478329	Azoospermia, Oligozoospermia	rs10841496	Caucasi an	52 cases	Male infertility	GWAS