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	EREG
Symbol Alias	ER
Approved Name	epiregulin
Location	4q21.21
Position	chr4:75230860-75254468, 1
External Links	HGNC: 3443 Entrez Gene: 2069 Ensembl: ENSG00000124882 UCSC: uc003hie.1
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Lasky-Su J, 2008	1 flanking SNPs of this gene with P-value<1E-5.	Trend

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 0)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs6446993	chr4:75231866(Fwd)	intron_variant; nc_transcript_variant
rs2367709	chr4:75248685(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs7671661	chr4:75239235(Fwd)	intron_variant; nc_transcript_variant
rs12512409	chr4:75235789(Fwd)	intron_variant; nc_transcript_variant
rs1563826	chr4:75235524(Fwd)	intron_variant; nc_transcript_variant
rs1993665	chr4:75234486(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 40)

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

GO terms by database search (count: 40)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005615	extracellular space	cellular component	IDA[14581411]	133
GO:0045840	positive regulation of mitosis	biological process	ISS	8
GO:0005887	integral to plasma membrane	cellular component	TAS[9337852]	236
GO:0007143	female meiosis	biological process	ISS	2
GO:0048661	positive regulation of smooth muscle cell proliferation	biological process	ISS[9990076]	5
GO:0042060	wound healing	biological process	TAS[12898511]	13
GO:0001550	ovarian cumulus expansion	biological process	ISS	2
GO:0019221	cytokine-mediated signaling pathway	biological process	IDA[9419975]	33
GO:0001525	angiogenesis	biological process	IEA	38
GO:0045410	positive regulation of interleukin-6 biosynthetic process	biological process	ISS	2
GO:0051781	positive regulation of cell division	biological process	IEA	12
GO:0005154	epidermal growth factor receptor binding	molecular function	ISS; TAS[10681561]	4
GO:0008083	growth factor activity	molecular function	IEA	28
GO:0008284	positive regulation of cell proliferation	biological process	IDA[10681561]; ISS	75
GO:0030728	ovulation	biological process	ISS	3
GO:0005515	protein binding	molecular function	IPI[9419975]	1015
GO:0042327	positive regulation of phosphorylation	biological process	IDA[9419975]; ISS[9990076]	5
GO:0048160	primary follicle stage	biological process	ISS	1
GO:0043434	response to peptide hormone stimulus	biological process	IEA	8
GO:0009887	organ morphogenesis	biological process	TAS[9337852]	19
GO:0045089	positive regulation of innate immune response	biological process	ISS	1
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	biological process	ISS[9990076]	3
GO:0009299	mRNA transcription	biological process	IDA[10681561]	1
GO:0007267	cell-cell signaling	biological process	IDA[14581411]	41
GO:0051151	negative regulation of smooth muscle cell differentiation	biological process	IDA[14581411]	1
GO:0030216	keratinocyte differentiation	biological process	TAS[10681561]	9
GO:0042108	positive regulation of cytokine biosynthetic process	biological process	IDA[10681561]	1
GO:0001556	oocyte maturation	biological process	ISS	4
GO:0050680	negative regulation of epithelial cell proliferation	biological process	TAS[10681561]	6
GO:0045892	negative regulation of transcription, DNA-dependent	biological process	IDA[14581411]	77
GO:0045860	positive regulation of protein kinase activity	biological process	IDA[14581411]	8
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	ISS	32
GO:0001819	positive regulation of cytokine production	biological process	ISS	3
GO:0043616	keratinocyte proliferation	biological process	IDA[10681561]	4
GO:0048146	positive regulation of fibroblast proliferation	biological process	IDA[12702554]	4
GO:0042700	luteinizing hormone signaling pathway	biological process	ISS	1
GO:0045740	positive regulation of DNA replication	biological process	IDA[9337852]; ISS	7
GO:0005576	extracellular region	cellular component	TAS	267
GO:0009653	anatomical structure morphogenesis	biological process	TAS[9337852]	28
GO:0008285	negative regulation of cell proliferation	biological process	ISS	65

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04012	ErbB signaling pathway	20

Genes shared at least 5 GO terms with EREG (count: 18)

Gene Symbol	Pathway Count	Pathway List
FGF10	9	extracellular space; wound healing; angiogenesis; growth factor activity; keratinocyte proliferation; positive regulation of fibroblast proliferation; positive regulation of DNA replication; extracellular region; negative regulation of cell proliferation;
INS	8	extracellular space; positive regulation of mitosis; wound healing; positive regulation of cell proliferation; protein binding; cell-cell signaling; positive regulation of DNA replication; extracellular region;
IL6	8	extracellular space; positive regulation of smooth muscle cell proliferation; cytokine-mediated signaling pathway; growth factor activity; positive regulation of cell proliferation; positive regulation of DNA replication; extracellular region; negative regulation of cell proliferation;
IGF2	7	extracellular space; positive regulation of mitosis; positive regulation of cell division; growth factor activity; positive regulation of cell proliferation; protein binding; extracellular region;
VEGFA	7	extracellular space; angiogenesis; positive regulation of cell division; growth factor activity; positive regulation of cell proliferation; protein binding; extracellular region;
FGF9	7	extracellular space; angiogenesis; positive regulation of cell division; growth factor activity; positive regulation of cell proliferation; cell-cell signaling; extracellular region;
FGF3	7	positive regulation of cell division; growth factor activity; positive regulation of cell proliferation; protein binding; cell-cell signaling; extracellular region; anatomical structure morphogenesis;
CTGF	6	extracellular space; angiogenesis; growth factor activity; positive regulation of cell proliferation; response to peptide hormone stimulus; extracellular region;
BTC	6	extracellular space; positive regulation of cell division; epidermal growth factor receptor binding; growth factor activity; positive regulation of cell proliferation; extracellular region;
VEGFB	6	extracellular space; angiogenesis; positive regulation of cell division; growth factor activity; protein binding; extracellular region;
MIF	5	extracellular space; protein binding; positive regulation of phosphorylation; positive regulation of fibroblast proliferation; extracellular region;
GREM1	5	extracellular space; positive regulation of cell proliferation; protein binding; cell-cell signaling; negative regulation of transcription, DNA-dependent;
ADRA2A	5	integral to plasma membrane; positive regulation of cell proliferation; protein binding; positive regulation of epidermal growth factor-activated receptor activity; positive regulation of cytokine production;
GJA1	5	integral to plasma membrane; protein binding; response to peptide hormone stimulus; cell-cell signaling; negative regulation of cell proliferation;
ADAM17	5	integral to plasma membrane; positive regulation of cell proliferation; protein binding; positive regulation of epidermal growth factor-activated receptor activity; epidermal growth factor receptor signaling pathway;
RELA	5	cytokine-mediated signaling pathway; positive regulation of cell proliferation; protein binding; organ morphogenesis; negative regulation of transcription, DNA-dependent;
CLCF1	5	cytokine-mediated signaling pathway; growth factor activity; positive regulation of cell proliferation; protein binding; extracellular region;
FGF4	5	positive regulation of cell division; growth factor activity; positive regulation of cell proliferation; cell-cell signaling; extracellular region;

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

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Region: chr4:75230860..75254468 View in gBrowse