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	ATF4
Previous Symbol	TXREB
Symbol Alias	TAXREB67, CREB-2
Approved Name	activating transcription factor 4
Previous Name	activating transcription factor 4 (tax-responsive enhancer element B67)
Name Alias	tax-responsive enhancer element B67
Location	22q13.1
Position	chr22:39519695-39522685, 1
External Links	HGNC: 786 Entrez Gene: 468 Ensembl: ENSG00000128272 UCSC: uc003axz.3
No. of Studies	1 (Positive: 1; Negative: 0; 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
Kakiuchi, C., 2007 (b)	SNP: rs1028321, rs4821907, rs6519194, rs882565 Haplotype: rs4821907 - rs1028321(), rs6519194 - rs882565(), rs6519194 - rs882565 - rs4821907(), rs6519194 - rs882565 - rs4821907 - rs1028321(G-C-C-G), rs882565 - rs4821907(), rs882565 - rs4821907 - rs1028321()	There were no significant differences in both genotype and allele frequencies in four SNPs of ATF4 locus; TDT analysis also showed no association to the illness; nominal association of ATF4 with bipolar II patients was observed, but itwas not significant after correction of multiple testing; Haplotype analysis of ATF4 in BPII patients and controls of Japanese samples showed the significant association	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 49)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043565	sequence-specific DNA binding	molecular function	IDA[22915762]	29
GO:0005634	nucleus	cellular component	IDA[11478948]; ISS	283
GO:0003677	DNA binding	molecular function	IDA[15788408]; ISS	83
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	ISS; TAS[12689582]	66

GO terms by database search (count: 45)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	TAS	10
GO:0034976	response to endoplasmic reticulum stress	biological process	IDA[19061639]	9
GO:0061395	positive regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance	biological process	TAS[14685163]	1
GO:1990440	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	biological process	IDA[12871976]; IMP[21113145]	3
GO:0036499	PERK-mediated unfolded protein response	biological process	TAS[22013210]	1
GO:0007214	gamma-aminobutyric acid signaling pathway	biological process	IEA	15
GO:0001085	RNA polymerase II transcription factor binding	molecular function	IPI[11478948]	6
GO:0043065	positive regulation of apoptotic process	biological process	TAS[23392669]	25
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0036091	positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress	biological process	IMP[21113145]; ISS[23392669]	1
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	biological process	ISS	2
GO:0034399	nuclear periphery	cellular component	IDA[23392669]	2
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[15775988]; IMP[11960987]; ISS; NAS[9190894]	58
GO:0006355	regulation of transcription, DNA-templated	biological process	ISS	62
GO:0043267	negative regulation of potassium ion transport	biological process	IEA	6
GO:0005515	protein binding	molecular function	IPI[11238952]	563
GO:1990590	ATF1-ATF4 transcription factor complex	cellular component	IDA[12871976]	1
GO:0006520	cellular amino acid metabolic process	biological process	TAS[12689582]	5
GO:0043522	leucine zipper domain binding	molecular function	IDA[11478948]	2
GO:1990617	CHOP-ATF4 complex	cellular component	IDA[11478948]; IPI[18940792]; NAS[15775988]	1
GO:0006366	transcription from RNA polymerase II promoter	biological process	ISS	31
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0046982	protein heterodimerization activity	molecular function	NAS[15775988]	42
GO:0044212	transcription regulatory region DNA binding	molecular function	IDA[21113145]; IDA[12871976]; TAS[23392669]	17
GO:1990589	ATF4-CREB1 transcription factor complex	cellular component	IDA[12871976]	2
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:0006094	gluconeogenesis	biological process	ISS	4
GO:0043005	neuron projection	cellular component	IDA[23392669]	38
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	molecular function	IC[21113145]; IDA[11478948]	6
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IEA	23
GO:0001046	core promoter sequence-specific DNA binding	molecular function	ISS	10
GO:1990037	Lewy body core	cellular component	IDA[23392669]	1
GO:0042149	cellular response to glucose starvation	biological process	IMP[22915762]	7
GO:0045943	positive regulation of transcription from RNA polymerase I promoter	biological process	IMP[22915762]	2
GO:0005737	cytoplasm	cellular component	IDA[23392669]; ISS	322
GO:0032922	circadian regulation of gene expression	biological process	ISS	22
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[11478948]; IMP[15788408]; ISS	91
GO:0010575	positive regulation vascular endothelial growth factor production	biological process	IMP[22915762]	5
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	8
GO:0005815	microtubule organizing center	cellular component	IEA	10
GO:0001076	RNA polymerase II transcription factor binding transcription factor activity	molecular function	IC[12871976]	1
GO:0032590	dendrite membrane	cellular component	IEA	3
GO:0008022	protein C-terminus binding	molecular function	IEA	21
GO:1903204	negative regulation of oxidative stress-induced neuron death	biological process	IGI[23392669]	1
GO:0043525	positive regulation of neuron apoptotic process	biological process	ISS	11

Gene related KEGG pathways (count: 4)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04720	Long-term potentiation	13
hsa04010	MAPK signaling pathway	39

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05215	Prostate cancer	18
hsa04912	GnRH signaling pathway	17

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 16)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATF4	TRIB3	NO	in vitro;in vivo;yeast 2-hybrid	12743605
ATF4	TREX2	NO	yeast 2-hybrid	16189514
ATF4	GPS2	NO	yeast 2-hybrid	16189514
ATF4	GTF2F2	NO	in vitro	9295363
ATF4	NFE2L1	NO	in vitro;yeast 2-hybrid	11025215
ATF4	CEBPG	NO	in vitro	1371974
ATF4	PTCD3	NO	yeast 2-hybrid	16189514
ATF4	JUN	NO	in vitro	1827203
ATF4	NFE2L2	NO	in vitro;in vivo;yeast 2-hybrid	11274184
ATF4	CCDC106	NO	yeast 2-hybrid	16169070
ATF4	CEBPB	NO	in vitro	11018027
ATF4	LDOC1	NO	yeast 2-hybrid	16189514
ATF4	DDIT3	NO	in vitro	12805554
ATF4	DAPK3	NO	in vitro;in vivo	9488481
ATF4	TTR	NO	yeast 2-hybrid	16189514
ATF4	POLR2C	NO	in vitro;in vivo;yeast 2-hybrid	12860379

Related other genetic factors

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1028321	chr22:39530924 - 39530924(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs6519194	chr22:39523519 - 39523519(1)	downstream_gene_variant	1(0/1/0)
rs4821907	chr22:39528438 - 39528438(1)	downstream_gene_variant	1(0/1/0)
rs882565	chr22:39525379 - 39525379(1)	downstream_gene_variant	1(0/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs710192	chr22:39517415 - 39517415(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs1048310	chr22:39517277 - 39517277(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs10854722	chr22:39517552 - 39517552(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs5750844	chr22:39527683 - 39527683(1)	downstream_gene_variant

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)
22q12.3-13.32	chr22:31800000-49100000	1 (0/1/0)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	1 (1/0/0)
22q13	chr22:37200000-50818468	1 (1/0/0)
22q13.1	chr22:37200000-40600000	1 (0/0/1)

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: 1)

Reference	ID in SZGene	Result Category
18163433	659	Negative

Gene relationship with MDD

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Region: chr22:39519695..39522685 View in gBrowse