Gene Report

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Basic Info

Approved Symbol	ARNT2
Symbol Alias	KIAA0307, bHLHe1
Approved Name	aryl-hydrocarbon receptor nuclear translocator 2
Location	15q25.1
Position	chr15:80404350-80597937, 1
External Links	HGNC: 16876 Entrez Gene: 9915 Ensembl: ENSG00000172379 UCSC: uc002bfr.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs6495504	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[12239177]	283
GO:0003677	DNA binding	molecular function	IEA	83
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	ISS	66
GO:0007420	brain development	biological process	IMP[24022475]	25
GO:0007417	central nervous system development	biological process	ISS	21
GO:0004871	signal transducer activity	molecular function	IEA	32

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001701	in utero embryonic development	biological process	ISS	17
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	91
GO:0008284	positive regulation of cell proliferation	biological process	IEA	44
GO:0046982	protein heterodimerization activity	molecular function	IPI[12239177]; ISS	42
GO:0005667	transcription factor complex	cellular component	IEA	18
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0045893	positive regulation of transcription, DNA-templated	biological process	ISS	58
GO:0007165	signal transduction	biological process	IEA	136
GO:0001666	response to hypoxia	biological process	IDA[12239177]	24
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0043066	negative regulation of apoptotic process	biological process	IEA	46
GO:0032355	response to estradiol	biological process	IEA	11
GO:0017162	aryl hydrocarbon receptor binding	molecular function	ISS	2
GO:0006355	regulation of transcription, DNA-templated	biological process	IDA[11782478]	62

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05211	Renal cell carcinoma	6

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
ARNT2	NPAS4	NO	yeast 2-hybrid	14701734
ARNT2	HIF1A	NO	yeast 2-hybrid	8927054
ARNT2	USP7	NO	yeast 2-hybrid	16713569
ARNT2	ARNT	NO	yeast 2-hybrid	8927054

Related other genetic factors

Gene related SNPs (count: 10)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6495504	chr15:80474284 - 80474284(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs7183507	chr15:80483252 - 80483252(1)	intron_variant; non_coding_transcript_variant
rs7178949	chr15:80485812 - 80485812(1)	intron_variant; non_coding_transcript_variant
rs8035351	chr15:80481296 - 80481296(1)	intron_variant; non_coding_transcript_variant
rs7183286	chr15:80483099 - 80483099(1)	intron_variant; non_coding_transcript_variant
rs8023406	chr15:80477799 - 80477799(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs8023708	chr15:80477840 - 80477840(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs8033507	chr15:80470463 - 80470463(1)	intron_variant; non_coding_transcript_variant
rs7179983	chr15:80486105 - 80486105(1)	intron_variant; non_coding_transcript_variant
rs7180575	chr15:80485863 - 80485863(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
15q25-26	chr15:78000000-101991189	1 (1/0/0)
15q24.1-25.2	chr15:72400000-84700000	1 (0/1/0)
Chr 15	chr15:0-101991189	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr15:80404350..80597937 View in gBrowse