Gene Report

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Basic Info

Approved Symbol	EGR4
Symbol Alias	NGFI-C, PAT133
Approved Name	early growth response 4
Location	2p13
Position	chr2:73290929-73293705, -1
External Links	HGNC: 3241 Entrez Gene: 1961 Ensembl: ENSG00000135625 UCSC: uc010yrj.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gallitano, A. L.,2012	SNP: rs1522928, rs2229294, rs3813224, rs6718289, rs6747506	None of the SNPs tested in EGR4 was associated with child BP-I.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	NAS[1584812]	66
GO:0005634	nucleus	cellular component	IBA	283
GO:0003677	DNA binding	molecular function	IEA	83

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043066	negative regulation of apoptotic process	biological process	IBA	46
GO:0006355	regulation of transcription, DNA-templated	biological process	IEA	62
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0071320	cellular response to cAMP	biological process	IBA	8
GO:0071371	cellular response to gonadotropin stimulus	biological process	IBA	5
GO:0005737	cytoplasm	cellular component	IBA	322
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0008284	positive regulation of cell proliferation	biological process	TAS[1658795]	44

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
EGR4	NFATC2	NO	in vitro	12560487

Related other genetic factors

Gene related SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6747506	chr2:73294754 - 73294754(1)	upstream_gene_variant	1(0/1/0)
rs2229294	chr2:73291405 - 73291405(1)	3_prime_UTR_variant	1(0/1/0)
rs1522928	chr2:73298409 - 73298409(1)	upstream_gene_variant	1(0/1/0)
rs6718289	chr2:73294038 - 73294038(1)	upstream_gene_variant	1(0/1/0)
rs3813224	chr2:73289636 - 73289636(1)	downstream_gene_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2p16.1-q11.2	chr2:54700000-102100000	1 (1/0/0)
2p16.2-p11.2	chr2:52600000-91800000	1 (1/0/0)
2p14-2p13.2	chr2:63900000-73300000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
17360599	499	Negative
20144677	499	Negative

Gene relationship with MDD

View in gBrowse

Region: chr2:73290929..73293705 View in gBrowse