Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	EGR1
Symbol Alias	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225
Approved Name	early growth response 1
Name Alias	nerve growth factor-induced protein A, "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"
Location	5q23-q31
Position	chr5:138465490-138469315, 1
External Links	HGNC: 3238 Entrez Gene: 1958 Ensembl: ENSG00000120738 UCSC: uc003ldb.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gallitano, A. L.,2012	SNP: rs11741807, rs11743810, rs1548587, rs1800778, rs2051861, rs6914, rs7729723	None of the SNPs tested in EGR1 was associated with child BP-I.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 58)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[12560508]	66
GO:0003677	DNA binding	molecular function	IDA[12560508]	83
GO:0043565	sequence-specific DNA binding	molecular function	IDA[1662794]	29
GO:0005634	nucleus	cellular component	IDA[19057511]; ISS	283

GO terms by database search (count: 54)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030509	BMP signaling pathway	biological process	IEA	6
GO:0033233	regulation of protein sumoylation	biological process	IDA[19057511]	1
GO:0035690	cellular response to drug	biological process	IEA	13
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0034465	response to carbon monoxide	biological process	IEA	2
GO:0071320	cellular response to cAMP	biological process	IBA	8
GO:0072110	glomerular mesangial cell proliferation	biological process	ISS	1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[19057511]; IMP[20018936]	91
GO:0009749	response to glucose	biological process	IEA	8
GO:0035035	histone acetyltransferase binding	molecular function	IPI[20018936]	2
GO:0003690	double-stranded DNA binding	molecular function	IEA	4
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	molecular function	IEA	9
GO:0019221	cytokine-mediated signaling pathway	biological process	TAS	23
GO:0090090	negative regulation of canonical Wnt signaling pathway	biological process	IEA	9
GO:0048169	regulation of long-term neuronal synaptic plasticity	biological process	IBA	8
GO:0030217	T cell differentiation	biological process	IEA	3
GO:0071236	cellular response to antibiotic	biological process	IEA	3
GO:0060337	type I interferon signaling pathway	biological process	TAS	7
GO:0005515	protein binding	molecular function	IPI[14979875]	563
GO:0006366	transcription from RNA polymerase II promoter	biological process	IDA[19057511]	31
GO:0070498	interleukin-1-mediated signaling pathway	biological process	IMP[20018936]	1
GO:0071363	cellular response to growth factor stimulus	biological process	IEA	8
GO:0071383	cellular response to steroid hormone stimulus	biological process	IEA	6
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[12560508]	58
GO:0071480	cellular response to gamma radiation	biological process	IEA	1
GO:0071506	cellular response to mycophenolic acid	biological process	ISS	1
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0071873	response to norepinephrine	biological process	IEA	1
GO:0042220	response to cocaine	biological process	IEA	12
GO:0060291	long-term synaptic potentiation	biological process	IEA	14
GO:0071372	cellular response to follicle-stimulating hormone stimulus	biological process	IEA	1
GO:0032869	cellular response to insulin stimulus	biological process	IEA	12
GO:0008134	transcription factor binding	molecular function	IEA	28
GO:0043525	positive regulation of neuron apoptotic process	biological process	IEA	11
GO:0005737	cytoplasm	cellular component	IDA[19057511]; ISS	322
GO:0035914	skeletal muscle cell differentiation	biological process	IBA	4
GO:0007611	learning or memory	biological process	IEA	13
GO:0072303	positive regulation of glomerular metanephric mesangial cell proliferation	biological process	ISS	1
GO:0000976	transcription regulatory region sequence-specific DNA binding	molecular function	IDA[18718911]	4
GO:0071371	cellular response to gonadotropin stimulus	biological process	IBA	5
GO:0051602	response to electrical stimulus	biological process	IEA	11
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IEA	62
GO:0071317	cellular response to isoquinoline alkaloid	biological process	IEA	1
GO:0045471	response to ethanol	biological process	IEA	24
GO:0071260	cellular response to mechanical stimulus	biological process	IEA	12
GO:0048709	oligodendrocyte differentiation	biological process	IEA	5
GO:0007623	circadian rhythm	biological process	IEA	40
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IEA	18
GO:0071504	cellular response to heparin	biological process	ISS	1
GO:0071455	cellular response to hyperoxia	biological process	IEA	1
GO:0031667	response to nutrient levels	biological process	IEA	7
GO:0043066	negative regulation of apoptotic process	biological process	IBA	46
GO:0071456	cellular response to hypoxia	biological process	IEA	13
GO:0001975	response to amphetamine	biological process	IEA	19

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
cdk5Pathway	Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway	2

Gene related interactors from protein-protein interactions data in HPRD (count: 12)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
EGR1	SP1	NO	in vivo	12569082
EGR1	NFATC2	NO	in vitro	12560487
EGR1	EP300	NO	in vivo;yeast 2-hybrid	9806899
EGR1	PSMA3	NO	in vivo;yeast 2-hybrid	12379479
EGR1	NAB2	NO	in vitro;in vivo;yeast 2-hybrid	8668170
EGR1	PITX1	NO	in vitro	10082522
EGR1	CEBPB	NO	in vivo	12947119
EGR1	CDKN2A	YES	in vitro	19057511
EGR1	TP53	NO	in vitro;in vivo	11251186
EGR1	NAB1	NO	in vitro;in vivo;yeast 2-hybrid	7624335
EGR1	JUN	NO	in vitro;in vivo	11278640
EGR1	RELA	NO	in vitro	10671503

Related other genetic factors

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11741807	chr5:138469963 - 138469963(1)	downstream_gene_variant; upstream_gene_variant	1(0/1/0)
rs1548587	chr5:138457050 - 138457050(1)	upstream_gene_variant	1(0/1/0)
rs7729723	chr5:138461691 - 138461691(1)	upstream_gene_variant	1(0/1/0)
rs1800778	chr5:138465324 - 138465324(1)	upstream_gene_variant	1(0/1/0)
rs11743810	chr5:138466715 - 138466715(1)	intron_variant	1(0/1/0)
rs6914	chr5:138468946 - 138468946(1)	3_prime_UTR_variant; upstream_gene_variant	1(0/1/0)
rs2051861	chr5:138471098 - 138471098(1)	downstream_gene_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs3813321		chr5:138464335 - 138464335(1)	upstream_gene_variant
rs10073397		chr5:138472734 - 138472734(1)	downstream_gene_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
20144677	501	Negative
17360599	501	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 3)

Reference	Description	Category in MDD	Link in MK4MDD
19782477	NGFI-A, a transcription factor of exon 1F was down-regulated in the hippocampus of MDD patients	Pos	EGR1
19605536	Downregulated in MDD patients	Pos	EGR1
23087602	The greatest changes in expression were observed among transcriptional regulators, including downregulation in the expression of TOB1, EGR1, and NR4A2 and their downstream targets.	Pos	EGR1

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Region: chr5:138465490..138469315 View in gBrowse