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Basic Info

Approved Symbol	ELK3
Symbol Alias	ERP, NET, SAP2
Approved Name	ELK3, ETS-domain protein (SRF accessory protein 2)
Location	12q23
Position	chr12:96194382-96269835, 1
External Links	HGNC: 3325 Entrez Gene: 2004 Ensembl: ENSG00000111145 UCSC: uc001teo.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Chang, C. C., 2007	SNP: rs2242446, rs5569	The investigated polymorphisms of NET are not major risk factors responsible for predisposition to BPD or its clinical subtypes in Han Chinese	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030154	cell differentiation	biological process	IBA	31
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	NAS[7851904]	66
GO:0003714	transcription corepressor activity	molecular function	IDA[12933792]	21
GO:0005634	nucleus	cellular component	IC[12933792]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IDA[12788937]	18
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0001525	angiogenesis	biological process	IEA	20
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	molecular function	IBA	6
GO:0005515	protein binding	molecular function	IPI[17474147]	563
GO:0032422	purine-rich negative regulatory element binding	molecular function	IDA[12933792]	1
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IDA[12788937]	23
GO:0005739	mitochondrion	cellular component	IDA	75
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	IBA	21
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[12788937]	91
GO:0006366	transcription from RNA polymerase II promoter	biological process	IBA	31
GO:0042060	wound healing	biological process	IEA	9
GO:0007165	signal transduction	biological process	TAS[7958835]	136
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[12933792]	43

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ELK3	MAPK8	NO	in vitro	11042694
ELK3	MAPK14	NO	in vitro	11042694
ELK3	ID2	NO	in vitro	10022839
ELK3	PIAS1	NO	in vitro;in vivo;yeast 2-hybrid	15580297
ELK3	TCF3	NO	in vivo	8918463
ELK3	MAPK9	NO	in vitro	11042694
ELK3	CTBP1	NO	in vitro;in vivo;yeast 2-hybrid	10369679

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2242446	chr16:55656513 - 55656513(1)	5_prime_UTR_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs5569	chr16:55697923 - 55697923(1)	downstream_gene_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q23	chr12:95800000-108600000	2 (0/1/1)
12q23.1	chr12:95800000-101200000	1 (0/0/1)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
18779921	The chi-square (chi (2)) test showed allelic association for the T-182C polymorphism (chi (2) = 6.46, corrected P = 0.011) and also showed genotypic association (chi (2) = 6.87, corrected P = 0.034).	Pos	ELK3
11927173	No statistical significant differences between patients and controls were found for any of the analyzed polymorphisms, either in the genotype distribution or in the allele frequencies	Neg	ELK3
15539861	There was a significant difference in the genotype distribution between major depressive disorder patients and healthy volunteers (p = 0.02)	Pos	ELK3
17353941	No significant difference was observed between the patients and healthy control subjects in the genotype distributions and allele frequencies for the investigated NET polymorphisms. Similarly, no significant differences were found between more homogeneous subgroups of patients and normal control subjects.	Neg	ELK3
15118352	We found a significantly lower frequency in TT genotype in patients with major depression than in normal controls when the genotypes of T-182C polymorphism were classified into two groups: TT group versus TC + CC group (p = 0.019).	Pos	ELK3
19105200	The sample comprised 426 patients suffering from unipolar MD as well as 643 healthy control subjects for the variants of the 5-HT(1A) receptor and the NET. Both SNPs were shown to be associated with MD. In conclusio	Pos	ELK3

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Region: chr12:96194382..96269835 View in gBrowse