Gene Report

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Basic Info

Approved Symbol	ATF5
Approved Name	activating transcription factor 5
Location	19q13.33
Position	chr19:49928702-49933935, 1
External Links	HGNC: 790 Entrez Gene: 22809 Ensembl: ENSG00000169136 UCSC: uc002prd.3
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
Kakiuchi, C., 2007 (b)	SNP: rs1152230, rs283524, rs283525, rs8647, rs8667 Haplotype: rs1152230 - rs283524(), rs1152230 - rs283524 - rs283525(), rs1152230 - rs283524 - rs283525 - rs8647(), rs1152230 - rs283524 - rs283525 - rs8647 - rs8667(), rs283524 - rs283525(), rs283524 - rs283525 - rs8647(), rs283524 - rs283525 - rs8647 - rs8667(), rs283525 - rs8647(), rs283525 - rs8647 - rs8667(), rs8647 - rs8667()	We did not find the association of ATF5 with bipolar disorder by genetic association study of Japanese samples and NIMH trio samples. In addition, there was no difference of mRNA expression levels between BPI patients and controls.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003714	transcription corepressor activity	molecular function	TAS[10373550]	21

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031072	heat shock protein binding	molecular function	IEA	6
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	molecular function	IMP[15890932]	10
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	TAS[10373550]	21
GO:0021891	olfactory bulb interneuron development	biological process	IEA	2
GO:0009791	post-embryonic development	biological process	IEA	10
GO:0035264	multicellular organism growth	biological process	IEA	9
GO:0005515	protein binding	molecular function	IPI[10373550]	563
GO:1903507	negative regulation of nucleic acid-templated transcription	biological process	TAS[10373550]	2
GO:0043066	negative regulation of apoptotic process	biological process	IEA	46
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0007623	circadian rhythm	biological process	IEA	40
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0048712	negative regulation of astrocyte differentiation	biological process	IEA	5
GO:0001228	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IC	5
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[16300731]	91
GO:0005667	transcription factor complex	cellular component	IEA	18
GO:0005737	cytoplasm	cellular component	IDA	322

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATF5	GABBR1	YES	yeast 2-hybrid	11087824
ATF5	CEBPG	NO	in vitro	1371974
ATF5	CCND3	NO	in vitro;in vivo;yeast 2-hybrid	15358120
ATF5	CDC34	NO	in vivo;yeast 2-hybrid	10373550

Related other genetic factors

Gene related SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs283524	chr19:49931882 - 49931882(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)
rs8667	chr19:49933114 - 49933114(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs8647	chr19:49933723 - 49933723(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)
rs283525	chr19:49932490 - 49932490(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)
rs1152230	chr19:49930246 - 49930246(1)	5_prime_UTR_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs7247653	chr19:49934202 - 49934202(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs12610975	chr19:49936462 - 49936462(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs3170545	chr19:49933458 - 49933458(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs3826777	chr19:49928131 - 49928131(1)	5_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant

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)
19p13-q13	chr19:0-58617616	1 (0/1/0)
Chr 19	chr19:0-58617616	2 (0/2/0)
19q13	chr19:31900000-58617616	2 (0/2/0)
19q13.33-qter	chr19:47500000-58617616	1 (0/1/0)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
19251251	785	Negative

Gene relationship with MDD

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Region: chr19:49928702..49933935 View in gBrowse