Gene Report

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Basic Info

Approved Symbol	MPPE1
Approved Name	metallophosphoesterase 1
Location	18p11.21
Position	chr18:11882622-11909223, -1
External Links	HGNC: 15988 Entrez Gene: 65258 Ensembl: ENSG00000154889 UCSC: uc002kqf.4
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2009	SNP: rs3974590, rs662515, rs673735, rs8097892	Significant association of SNP in this gene with BD in our population was observed.	Positive	Comment on Study
Lohoff, F. W., 2010	SNP: rs3974590, rs593713, rs602201, rs871044 Haplotype: rs3974590 - rs593713(GA), rs3974590 - rs593713(AG), rs3974590 - rs593713(GG), rs3974590 - rs593713(AA), rs871044 - rs3974590 - rs593713 - rs602201(GGAT), rs871044 - rs3974590 - rs593713 - rs602201(AGAT), rs871044 - rs3974590 - rs593713 - rs602201(GGAA), rs871044 - rs3974590 - rs593713 - rs602201(GAGA), rs871044 - rs3974590 - rs593713 - rs602201(AAGT), rs871044 - rs3974590 - rs593713 - rs602201(AAGA), rs871044 - rs3974590 - rs593713 - rs602201(AGAA), rs871044 - rs3974590 - rs593713 - rs602201(GAGT), rs871044 - rs3974590 - rs593713 - rs602201(GAAT)	Our results provide evidence of an association between a polymorphism in the MPPE1 gene and BPD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005801	cis-Golgi network	cellular component	ISS	3
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0008081	phosphoric diester hydrolase activity	molecular function	ISS	2
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	cellular component	ISS	3
GO:0034235	GPI anchor binding	molecular function	ISS	1
GO:0006506	GPI anchor biosynthetic process	biological process	ISS	1
GO:0030145	manganese ion binding	molecular function	ISS	5
GO:0070971	endoplasmic reticulum exit site	cellular component	ISS	3
GO:0005794	Golgi apparatus	cellular component	IDA	60
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	cellular component	IEA	1
GO:0006888	ER to Golgi vesicle-mediated transport	biological process	ISS	6

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs593713	chr18:11887658 - 11887658(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs871044	chr18:11907375 - 11907375(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs8097892	chr18:11905954 - 11905954(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; splice_acceptor_variant; upstream_gene_variant	1(0/1/0)
rs662515	chr18:11886564 - 11886564(1)	downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs3974590	chr18:11892846 - 11892846(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	2(2/0/0)
rs602201	chr18:11882269 - 11882269(1)	3_prime_UTR_variant; downstream_gene_variant	2(0/2/0)
rs673735	chr18:11893392 - 11893392(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs605961		chr18:11888096 - 11888096(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs689057		chr18:11887885 - 11887885(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18p11-q12.3	chr18:0-45900000	1 (0/0/1)
18pter-p11	chr18:0-18500000	1 (0/1/0)
Chr 18	chr18:0-80373285	1 (1/0/0)
18p11	chr18:0-18500000	6 (1/2/3)
18p	chr18:0-18500000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr18:11882622..11909223 View in gBrowse