ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	PPM1F
Symbol Alias	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP
Approved Name	protein phosphatase, Mg2+/Mn2+ dependent, 1F
Previous Name	"protein phosphatase 1F (PP2C domain containing)"
Name Alias	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"
Location	22q11.22
Position	chr22:22273793-22307209, -1
External Links	HGNC: 19388 Entrez Gene: 9647 Ensembl: ENSG00000100034 UCSC: uc002zvp.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by Literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Lesch KP, 2008	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs412050	chr22:22307519(Fwd)	downstream_gene_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs735244	chr22:22292099(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs6000236	chr22:22296459(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs240065	chr22:22296119(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 23)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005829	cytosol	cellular component	IDA[11559703]	485
GO:0045892	negative regulation of transcription, DNA-dependent	biological process	IMP	77
GO:0033137	negative regulation of peptidyl-serine phosphorylation	biological process	IDA[15140879]	2
GO:0010628	positive regulation of gene expression	biological process	IMP	29
GO:0046872	metal ion binding	molecular function	IEA	200
GO:0043234	protein complex	cellular component	IDA[11864573]	47
GO:0051894	positive regulation of focal adhesion assembly	biological process	IMP	4
GO:0048471	perinuclear region of cytoplasm	cellular component	IEA	99
GO:0010811	positive regulation of cell-substrate adhesion	biological process	IMP	6
GO:0050921	positive regulation of chemotaxis	biological process	IMP	3
GO:0010634	positive regulation of epithelial cell migration	biological process	IMP	3
GO:0045927	positive regulation of growth	biological process	IMP	1
GO:0006469	negative regulation of protein kinase activity	biological process	IDA[11864573]	17
GO:0051496	positive regulation of stress fiber assembly	biological process	IDA[11864573]; IMP	7
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IDA[11559703]	7
GO:0005515	protein binding	molecular function	IPI[11559703]	1015
GO:0044387	negative regulation of protein kinase activity by regulation of protein phosphorylation	biological process	IDA[15140879]	1
GO:0016791	phosphatase activity	molecular function	IDA[15140879]	5
GO:0035970	peptidyl-threonine dephosphorylation	biological process	IDA[11864573]	1
GO:0035690	cellular response to drug	biological process	IDA	8
GO:0004722	protein serine/threonine phosphatase activity	molecular function	IDA[11864573]; IMP	8
GO:0097193	intrinsic apoptotic signaling pathway	biological process	IDA[11559703]	6
GO:0033192	calmodulin-dependent protein phosphatase activity	molecular function	IDA[15140879]	1

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with PPM1F (count: 5)

Gene Symbol	Pathway Count	Pathway List
CTGF	5	cytosol; positive regulation of gene expression; perinuclear region of cytoplasm; positive regulation of stress fiber assembly; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;
KAT5	5	cytosol; negative regulation of transcription, DNA-dependent; metal ion binding; perinuclear region of cytoplasm; protein binding;
MEN1	5	cytosol; negative regulation of transcription, DNA-dependent; protein complex; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein binding;
ID2	5	cytosol; negative regulation of transcription, DNA-dependent; positive regulation of gene expression; protein complex; protein binding;
PDE2A	5	cytosol; metal ion binding; perinuclear region of cytoplasm; protein binding; cellular response to drug;

Genes shared at least 2 KEGG pathways with PPM1F (count: 0)

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Region: chr22:22273793..22307209 View in gBrowse