Paraoxonase 2

Alternative Names

  • PON2
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OMIM Number

602447

NCBI Gene ID

5445

Uniprot ID

Q15165

Length

30,167 bases

No. of Exons

9

No. of isoforms

3

Protein Name

Serum paraoxonase/arylesterase 2

Molecular Mass

39381 Da

Amino Acid Count

354

Genomic Location

chr7:95,404,861-95,435,027

Gene Map Locus
7q21.3

Description

This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000305.2:c.146-1542_146-1541insTGTGTAGGCATUnited Arab EmiratesNC_000007.13:g.95047153_95047154insATGCCTACACANM_000305.2:c.146-1542_146-1541insTGTGTAGGCAT; NP_000296.2:p.?3831551
NM_000305.3:c.932C>GUnited Arab EmiratesNC_000007.14:g.95405463G>CBenignBenignNG_008725.1:g.34610C>G; NM_000305.3:c.932C>G; NP_000296.2:p.Ser311Cys74937084
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