• Gene id: 744

Gene Summary

• Gene Symbol: MPPED2   Gene   UCSC   Ensembl
• Aliases: 239FB, C11orf8
• Gene name: metallophosphoesterase domain containing 2
• Alternate names: metallophosphoesterase MPPED2, fetal brain protein 239, metallophosphoesterase domain-containing protein 2,
• Gene location: 11p14.1 (30586994: 30384078)     Exons: 19     NC_000011.10
• Gene summary(Entrez): This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
• OMIM: 600911

SNPs

rs775700619

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

NC_000011.10   g.73951138G>A
NC_000011.10   g.73951138G>C
NC_000011.9   g.73662183G>A
NC_000011.9   g.73662183G>C
NG_053111.1   g.5820G>A
NG_053111.1   g.5820G>C|SEQ=[G/A/C]|GENE=DNAJB13

rs754776389

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

NC_000011.10   g.73969996T>C
NC_000011.10   g.73969996T>G
NC_000011.9   g.73681041T>C
NC_000011.9   g.73681041T>G
NG_053111.1   g.24678T>C
NG_053111.1   g.24678T>G
NM_153614.3   c.833T>C
NM_153614.3   c.833T>G
NM_153614.2   c.833T>C
NM_153614.2   c.833T>G
XM_011545004.3  

Protein Summary

• Protein general information: Q15777  
  • Name: Metallophosphoesterase MPPED2 (EC 3.1. . ) (Fetal brain protein 239) (239FB) (Metallophosphoesterase domain containing protein 2)
  • Length: 294  
  • Mass: 33360
  • Tissue specificity: Expressed predominantly in fetal brain.
• Sequence:

  MAHGIPSQGKVTITVDEYSSNPTQAFTHYNINQSRFQPPHVHMVDPIPYDTPKPAGHTRFVCISDTHSRTDGIQM
  PYGDILLHTGDFTELGLPSEVKKFNDWLGNLPYEYKIVIAGNHELTFDKEFMADLVKQDYYRFPSVSKLKPEDFD
  NVQSLLTNSIYLQDSEVTVKGFRIYGAPWTPWFNGWGFNLPRGQSLLDKWNLIPEGIDILMTHGPPLGFRDWVPK
  ELQRVGCVELLNTVQRRVRPKLHVFGGIHEGYGIMTDGYTTYINASTCTVSFQPTNPPIIFDLPNPQGS

• Structural information:
  • Interpro: IPR024201  IPR004843  IPR029052  
  • STRING: ENSP00000350833
• Other Databases: GeneCards:  MPPED2  Malacards:  MPPED2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030145	manganese ion binding	ISS	molecular function
GO:0019002	GMP binding	ISS	molecular function
GO:0016208	AMP binding	ISS	molecular function
GO:0008081	phosphoric diester hydrolase activity	ISS	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	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:0030145	manganese ion binding	IEA	molecular function
GO:0019002	GMP binding	IEA	molecular function
GO:0016208	AMP binding	IEA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R