Gene Report

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Basic Info

Approved Symbol	EGR3
Symbol Alias	PILOT
Approved Name	early growth response 3
Name Alias	zinc finger protein pilot
Location	8p23-p21
Position	chr8:22687659-22693302, -1
External Links	HGNC: 3240 Entrez Gene: 1960 Ensembl: ENSG00000179388 UCSC: uc003xcm.1
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gallitano, A. L.,2012	SNP: rs1008949, rs10095121, rs10104039, rs11775096, rs17088536, rs1996147, rs2090052, rs3750192, rs4295666, rs4520160, rs4535741, rs4872533 Haplotype: rs10095121 - rs10104039(C-C), rs10095121 - rs10104039(C-T), rs10095121 - rs10104039(T-C), rs10095121 - rs10104039(T-T)	Our study revealed a preliminary finding suggesting that EGR3, a gene that translates environmental stimuli into long-term changes in the brain, warrants further investigation for association with risk for child BP-I disorder in a larger sample.	Positive	Comment on Study
Mansour, H. A.,2009	SNP: rs1996147	Gene-based tests:X<sup>2</sup>=7.248, P-value = 0.014 in recessive model, X<sup>2</sup>=7.659, P-value = 0.02 in additive model, X<sup>2</sup>=2.613, P-value = 0.288 in dominant model in BPI. Significant association was observed using both single SNP-based analyses and gene-based tests in BPI.	Positive	Comment on Study
Byrne, E. M., 2014		P-value=0.10. Gene-based tests show no significant association between this gene and BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 21)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003677	DNA binding	molecular function	IEA	83
GO:0005634	nucleus	cellular component	IBA	283
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	TAS[1906159]	66

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0044344	cellular response to fibroblast growth factor stimulus	biological process	IMP[18059339]	2
GO:0043066	negative regulation of apoptotic process	biological process	IMP[18059339]	46
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0002042	cell migration involved in sprouting angiogenesis	biological process	IDA[18059339]	1
GO:0035767	endothelial cell chemotaxis	biological process	IMP[18059339]	1
GO:0007623	circadian rhythm	biological process	TAS[9488654]	40
GO:0007422	peripheral nervous system development	biological process	IEA	6
GO:0005737	cytoplasm	cellular component	IBA	322
GO:0001938	positive regulation of endothelial cell proliferation	biological process	IMP[18059339]	11
GO:0071371	cellular response to gonadotropin stimulus	biological process	IBA	5
GO:0033089	positive regulation of T cell differentiation in thymus	biological process	IEA	2
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0007517	muscle organ development	biological process	TAS[9731539]	11
GO:0045586	regulation of gamma-delta T cell differentiation	biological process	IEA	1
GO:0007274	neuromuscular synaptic transmission	biological process	IEA	5
GO:0071320	cellular response to cAMP	biological process	IBA	8
GO:0035924	cellular response to vascular endothelial growth factor stimulus	biological process	IMP[18059339]	2
GO:0006355	regulation of transcription, DNA-templated	biological process	IEA	62

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
vipPathway	Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells	9

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

Related other genetic factors

Gene related SNPs (count: 13)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4535741	chr8:22698911 - 22698911(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs17088536	chr8:22679714 - 22679714(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs1996147	chr8:22686645 - 22686645(1)	downstream_gene_variant; upstream_gene_variant	2(1/1/0)
rs10095121	chr8:22680913 - 22680913(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs3750192	chr8:22691277 - 22691277(1)	3_prime_UTR_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(0/1/0)
rs11775096	chr8:22709841 - 22709841(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4872533	chr8:22702180 - 22702180(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4520160	chr8:22704371 - 22704371(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs1008949	chr8:22696108 - 22696108(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs4295666	chr8:22704579 - 22704579(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2090052	chr8:22705582 - 22705582(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs10104039	chr8:22680871 - 22680871(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs4445224		chr8:22697556 - 22697556(1)	intron_variant; non_coding_transcript_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)
8p21	chr8:19200000-29000000	2 (0/1/1)
Chr 8	chr8:0-145138636	3 (0/3/0)

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

Gene relationship with SZ

Reference	Description	Result Category
19839995	Gene-based tests:X<sup>2</sup>=1.294, P-value = 0.469 in recessive model in SZ/SZA, X<sup>2</sup>=1.601, P-value = 0.495 in additive model in SZ/SZA, X<sup>2</sup>=0.774, P-value = 0.759 in dominant model in SZ/SZA.No association was observed using neither single SNP-based analyses nor gene-based tests in SZ/SZA.	Negative
24687905	P-value=0.77. Gene-based tests show no significant association between this gene and SZ.	Negative

Gene relationship with MDD

Reference	Description	Category in MDD
24687905	P-value=0.63. Gene-based tests show no significant association between this gene and MDD.	Negative

Reference	Description	Category in MDD	Link in MK4MDD
24424390	Thirty-four of the 47 monocyte inflammatory-related genes were significantly upregulated and 2 were significantly downregulated as compared to controls	Pos	EGR3

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Region: chr8:22687659..22693302 View in gBrowse