• Gene id: 5168

Gene Summary

• Gene Symbol: ENPP2   Gene   UCSC   Ensembl
• Aliases: ATX, ATX-X, AUTOTAXIN, LysoPLD, NPP2, PD-IALPHA, PDNP2
• Gene name: ectonucleotide pyrophosphatase/phosphodiesterase 2
• Alternate names: ectonucleotide pyrophosphatase/phosphodiesterase family member 2, E-NPP 2, autotaxin-t, extracellular lysophospholipase D, phosphodiesterase I/nucleotide pyrophosphatase 2, plasma lysophospholipase D,
• Gene location: 8q24.12 (119673403: 119557084)     Exons: 29     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evoke
• OMIM: 601060

Protein Summary

• Protein general information: Q13822  
  • Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (E NPP 2) (EC 3.1.4.39) (Autotaxin) (Extracellular lysophospholipase D) (LysoPLD)
  • Length: 863  
  • Mass: 98994
  • Tissue specificity: Detected in blood plasma (at protein level) (PubMed
• Sequence:

  MARRSSFQSCQIISLFTFAVGVNICLGFTAHRIKRAEGWEEGPPTVLSDSPWTNISGSCKGRCFELQEAGPPDCR
  CDNLCKSYTSCCHDFDELCLKTARGWECTKDRCGEVRNEENACHCSEDCLARGDCCTNYQVVCKGESHWVDDDCE
  EIKAAECPAGFVRPPLIIFSVDGFRASYMKKGSKVMPNIEKLRSCGTHSPYMRPVYPTKTFPNLYTLATGLYPES
  HGIVGNSMYDPVFDATFHLRGREKFNHRWWGGQPLWITATKQGVKAGTFFWSVVIPHERRILTILQWLTLPDHER
  PSVYAFYSEQPDFSGHKYGPFGPEMTNPLREIDKIVGQLMDGLKQLKLHRCVNVIFVGDHGMEDVTCDRTEFLSN
  YLTNVDDITLVPGTLGRIRSKFSNNAKYDPKAIIANLTCKKPDQHFKPYLKQHLPKRLHYANNRRIEDIHLLVER
  RWHVARKPLDVYKKPSGKCFFQGDHGFDNKVNSMQTVFVGYGSTFKYKTKVPPFENIELYNVMCDLLGLKPAPNN
  GTHGSLNHLLRTNTFRPTMPEEVTRPNYPGIMYLQSDFDLGCTCDDKVEPKNKLDELNKRLHTKGSTEERHLLYG
  RPAVLYRTRYDILYHTDFESGYSEIFLMPLWTSYTVSKQAEVSSVPDHLTSCVRPDVRVSPSFSQNCLAYKNDKQ
  MSYGFLFPPYLSSSPEAKYDAFLVTNMVPMYPAFKRVWNYFQRVLVKKYASERNGVNVISGPIFDYDYDGLHDTE
  DKIKQYVEGSSIPVPTHYYSIITSCLDFTQPADKCDGPLSVSSFILPHRPDNEESCNSSEDESKWVEELMKMHTA
  RVRDIEHLTSLDFFRKTSRSYPEILTLKTYLHTYESEI

• Structural information:
  • Protein Domains: (55..9-)
    (/note="SMB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350-)
    (99..14-)
    (/note="SMB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350"-)
  • Interpro: IPR017850  IPR001604  IPR029881  IPR020821  IPR002591   IPR036024  IPR020436  IPR001212  
  • Prosite: PS00524 PS50958
  • PDB: 4ZG6 4ZG7 4ZG9 4ZGA 5KXA 5M7M 5MHP
  • PDBsum: 4ZG6 4ZG7 4ZG9 4ZGA 5KXA 5M7M 5MHP
  • STRING: ENSP00000259486
• Other Databases: GeneCards:  ENPP2  Malacards:  ENPP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004622	lysophospholipase activity	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0008270	zinc ion binding	IBA	molecular function
GO:0047391	alkylglycerophosphoethanolamine phosphodiesterase activity	IBA	molecular function
GO:0004528	phosphodiesterase I activity	IBA	molecular function
GO:0034638	phosphatidylcholine catabolic process	IBA	biological process
GO:0030334	regulation of cell migration	IDA	biological process
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0034638	phosphatidylcholine catabolic process	IDA	biological process
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0030149	sphingolipid catabolic process	IDA	biological process
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0009395	phospholipid catabolic process	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0005615	extracellular space	ISS	cellular component
GO:0005509	calcium ion binding	ISS	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0004551	nucleotide diphosphatase activity	IEA	molecular function
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030247	polysaccharide binding	IEA	molecular function
GO:0030334	regulation of cell migration	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004528	phosphodiesterase I activity	IEA	molecular function
GO:0005044	scavenger receptor activity	IEA	molecular function
GO:0006935	chemotaxis	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0045765	regulation of angiogenesis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004528	phosphodiesterase I activity	TAS	molecular function
GO:0008134	transcription factor binding	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0047391	alkylglycerophosphoethanolamine phosphodiesterase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0006644	phospholipid metabolic process	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0034638	phosphatidylcholine catabolic process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0009395	phospholipid catabolic process	IDA	biological process
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:2000394	positive regulation of lamellipodium morphogenesis	IGI	biological process
GO:0016787	hydrolase activity	TAS	molecular function
GO:0010634	positive regulation of epithelial cell migration	IMP	biological process
GO:0010634	positive regulation of epithelial cell migration	IGI	biological process
GO:0006935	chemotaxis	NAS	biological process
GO:0048870	cell motility	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
Diabetic retinopathy	PMID:22864860
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
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