• Gene id: 5445

Gene Summary

• Gene Symbol: PON2   Gene   UCSC   Ensembl
• Gene name: paraoxonase 2
• Alternate names: serum paraoxonase/arylesterase 2, A-esterase 2, PON 2, aromatic esterase 2, arylesterase 2, paraoxonase nirs, serum aryldialkylphosphatase 2,
• Gene location: 7q21.3 (43670345: 43646094)     Exons: 11     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 602447

SNPs

rs12484907

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

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

rs12170772

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

NC_000022.11   g.50145832C>A
NC_000022.11   g.50145832C>T
NC_000022.10   g.50584261C>A
NC_000022.10   g.50584261C>T|SEQ=[C/A/T]|GENE=MOV10L1

rs11704548

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

NC_000022.11   g.50144201G>A
NC_000022.10   g.50582630G>A
XM_005261923.4   c.2403G>A
XM_005261923.1   c.2403G>A
NM_018995.3   c.2463G>A
NM_018995.2   c.2463G>A
XM_011530700.2   c.2307G>A
XR_002958704.1   n.2546G>A
XM_011530697.1   c.2403G>A
XM_011530696.1   c.2463G>A
XM  

rs2272840

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

NC_000022.11   g.50149724G>A
NC_000022.11   g.50149724G>T
NC_000022.10   g.50588153G>A
NC_000022.10   g.50588153G>T|SEQ=[G/A/T]|GENE=MOV10L1

rs2272837

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

NC_000022.11   g.50144197A>C
NC_000022.11   g.50144197A>G
NC_000022.10   g.50582626A>C
NC_000022.10   g.50582626A>G
XM_005261923.4   c.2399A>C
XM_005261923.4   c.2399A>G
XM_005261923.1   c.2399A>C
XM_005261923.1   c.2399A>G
NM_018995.3   c.2459A>C
NM_018995.3   c.2459A>

rs2272836

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

NC_000022.11   g.50144121C>A
NC_000022.11   g.50144121C>T
NC_000022.10   g.50582550C>A
NC_000022.10   g.50582550C>T
XM_005261923.4   c.2323C>A
XM_005261923.4   c.2323C>T
XM_005261923.1   c.2323C>A
XM_005261923.1   c.2323C>T
NM_018995.3   c.2383C>A
NM_018995.3   c.2383C>

rs138271

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

NC_000022.11   g.50149702C>T
NC_000022.10   g.50588131C>T
XM_005261923.4   c.2655C>T
XM_005261923.1   c.2655C>T
NM_018995.3   c.2715C>T
NM_018995.2   c.2715C>T
XM_011530700.2   c.2559C>T
XM_011530697.1   c.2655C>T
XM_011530696.1   c.2715C>T
XM_011530699.1   c.2559C>T
XM  

rs2272838

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

NC_000022.11   g.50145772A>C
NC_000022.10   g.50584201A>C
XM_005261923.4   c.2529A>C
XM_005261923.1   c.2529A>C
NM_018995.3   c.2589A>C
NM_018995.2   c.2589A>C
XM_011530700.2   c.2433A>C
XR_002958704.1   n.2672A>C
XM_011530697.1   c.2529A>C
XM_011530696.1   c.2589A>C
XM  

rs17248147

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

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

Protein Summary

• Protein general information: Q15165  
  • Name: Serum paraoxonase/arylesterase 2 (PON 2) (EC 3.1.1.2) (EC 3.1.1.81) (Aromatic esterase 2) (A esterase 2) (Serum aryldialkylphosphatase 2)
  • Length: 354  
  • Mass: 39,381
• Sequence:

  MGRLVAVGLLGIALALLGERLLALRNRLKASREVESVDLPHCHLIKGIEAGSEDIDILPNGLAFFSVGLKFPGLH
  SFAPDKPGGILMMDLKEEKPRARELRISRGFDLASFNPHGISTFIDNDDTVYLFVVNHPEFKNTVEIFKFEEAEN
  SLLHLKTVKHELLPSVNDITAVGPAHFYATNDHYFSDPFLKYLETYLNLHWANVVYYSPNEVKVVAEGFDSANGI
  NISPDDKYIYVADILAHEIHVLEKHTNMNLTQLKVLELDTLVDNLSIDPSSGDIWVGCHPNGQKLFVYDPNNPPS
  SEVLRIQNILSEKPTVTTVYANNGSVLQGSSVASVYDGKLLIGTLYHRALYCEL

• Structural information:
  • Interpro: IPR011042  IPR002640  IPR008364  
  • DIP: 61136
  • STRING: ENSP00000222572
• Other Databases: GeneCards:  PON2  Malacards:  PON2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004064	arylesterase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006979	response to oxidative stress	IEA	biological process
GO:0009636	response to toxic substance	IBA	biological process
GO:0019439	aromatic compound catabolic process	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0102007	acyl-L-homoserine-lactone lactonohydrolase activity	IEA	molecular function
GO:0004064	arylesterase activity	IEA	molecular function
GO:0004064	arylesterase activity	IEA	molecular function
GO:0004064	arylesterase activity	TAS	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006979	response to oxidative stress	IEA	biological process
GO:0009636	response to toxic substance	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0019439	aromatic compound catabolic process	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0102007	acyl-L-homoserine-lactone lactonohydrolase activity	IEA	molecular function
GO:0004064	arylesterase activity	TAS	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0009636	response to toxic substance	IBA	biological process
GO:0019439	aromatic compound catabolic process	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function

Diseases

Associated diseases	References
Cancer	GAD: 17428620
Cancer (glaucoma)	GAD: 16411107
Cancer (breast)	GAD: 17428620
Aneurysm	GAD: 18635682
Apoplexy	GAD: 20458436
Brain ischemia	GAD: 19131662
Cardiovascular disease	GAD: 15039125
Cerebral hemorrhage	GAD: 18063859
Hypertension	GAD: 19254215
Restenosis	GAD: 12082592
Hyperhomocysteinemia	GAD: 18427977
Liver disease	GAD: 18977341
Retinopathy	GAD: 11918623
Glaucoma	GAD: 16411107
Asthma	GAD: 19575027
Asthma	GAD: 19575027
Crohn's disease	GAD: 17436100
Obesity	GAD: 19818126
Diabetes	GAD: 18413200
Hypercholesterolemia	GAD: 16030523
Bone diseases	GAD: 12955589
Stroke	GAD: 17406108
Amyotrophic lateral sclerosis (ALS)	GAD: 16822964
Alzheimer's disease	GAD: 19141999
Hearing Loss	GAD: 15345661
Chronic renal failure	GAD: 21085059
Kidney diseases	GAD: 19578796
Preterm birth risk	GAD: 15232408
Male factor infertility	MIK: 21561808
Connective tissue diseases	GAD: 19527514
Nephropathy	GAD: 11206400
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Decreased sperm concentration	MIK: 21127310
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 21561808
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21561808	Male infertility	PON1-55/192, PON2-311, GSTM1/T1		381 (187 infertile men (86 with non-obstructive azoospermia (NOA) and 101 with oligoasthenoteratozoospermia (OAT)), 194 fertile men)	Male infertility	PON1 PON2 GSTM1 GSTT1
21127310	Decreased sperm concentration	PON2 311C		290 (120 oligospermic and 170 normozoospermic men)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray