Gene info: ID 26053

Gene: AUTS2

GENE ID: 26053

Synonyms: FBRSL2|MRD26

Description: AUTS2, activator of transcription and developmental regulator

Gene type: protein-coding

Location: 7q11.22

dbXrefs: Ensembl:ENSG00000158321 MIM:607270 Vega:OTTHUMG00000023865 UniprotKB:Q8WXX7

RefSeq: NG_034133.1

Retrived from: PubMed|SNP Mapped

SNPs: 6 ANCO-SNPs

Phenotype: ND|AD

# Publications: 6

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 4.630e-1 (AD) 1.734e-1 (ND)

ANCO-SNPs

SNP ID	Position	Alleles	Trait	Variation Type
rs10257489	chr7:70672131 (GRCh38.p7)	A>C / A>G / A>T	nicotine dependence	SNV(Single Nucleotide Variation)
rs2107942	chr7:70666837 (GRCh38.p7)	T>C	alcohol dependence	SNV(Single Nucleotide Variation)
rs17568303	chr7:70488924 (GRCh38.p7)	C>G	nicotine dependence	SNV(Single Nucleotide Variation)
rs6943555	chr7:70341037 (GRCh38.p7)	T>A	alcohol dependence	SNV(Single Nucleotide Variation)
rs12698891	chr7:70300519 (GRCh38.p7)	A>G	nicotine dependence	SNV(Single Nucleotide Variation)
rs10241485	chr7:69742332 (GRCh38.p7)	A>G	nicotine dependence	SNV(Single Nucleotide Variation)

DNA Methylation

Probe	Locus(GRCh37)	Gene	Region	p-val	Trait	PubMed ID
cg17892069	chr7:70061616	AUTS2		9.530e-8	Maternal smoking in pregnancy	27040690
cg17892069	chr7:70061616	AUTS2		1.350e-8	Maternal smoking in pregnancy	27040690
cg17892069	chr7:70061616	AUTS2		8.850e-9	Maternal smoking in pregnancy	27040690

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
ABLIM1	0.782
TNIK	0.769
CTNND1	0.757
KDM3B	0.748
FBXW8	0.742
MTMR3	0.741
USP24	0.739
ARID1A	0.738
SNRNP200	0.736
TTC28	0.736

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.582
OR4F29	-0.56
LCE3C	-0.186
ANXA13	-0.184
FTH1P18	-0.177
CLPSL1	-0.17
C9orf92	-0.163
LCN1	-0.163
GHRH	-0.161
TSPAN8	-0.158

There is no DrugBank record for this gene !

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of AUTS2 mRNA"	27188386
C516138	(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine	"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of AUTS2 mRNA"	27188386
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of AUTS2 mRNA	24449571
D001151	Arsenic	Arsenic affects the expression of AUTS2 mRNA	18414638
C006632	arsenic trioxide	arsenic trioxide results in increased expression of AUTS2 mRNA	25555879
D001205	Ascorbic Acid	Ascorbic Acid results in increased expression of AUTS2 mRNA	25555879
D001280	Atrazine	Atrazine results in decreased expression of AUTS2 mRNA	22378314
D001554	Benzene	Benzene results in increased expression of AUTS2 mRNA	19162166
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of AUTS2 mRNA	23735875
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	"7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of AUTS2 mRNA"	19150397\|2038263
D004958	Estradiol	Estradiol results in decreased expression of AUTS2 mRNA	19167446
D004958	Estradiol	Estradiol results in decreased expression of AUTS2 mRNA	20068009
C044887	beta-methylcholine	beta-methylcholine affects the expression of AUTS2 mRNA	21179406
C006780	bisphenol A	bisphenol A results in decreased methylation of AUTS2 promoter	27312807
C006780	bisphenol A	bisphenol A results in increased expression of AUTS2 mRNA	26063408
C006780	bisphenol A	bisphenol A results in increased expression of AUTS2 mRNA	28196854
C006780	bisphenol A	bisphenol A affects the expression of AUTS2 mRNA	25181051
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of AUTS2 mRNA	15336504
C018475	butyraldehyde	butyraldehyde results in decreased expression of AUTS2 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of AUTS2 mRNA	26472689
C459604	candoxin	candoxin results in increased expression of AUTS2 mRNA	16309724
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of AUTS2 mRNA	20938992
D003375	Coumestrol	[Coumestrol co-treated with resveratrol] results in decreased expression of AUTS2 mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of AUTS2 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in decreased expression of AUTS2 mRNA	20106945
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of AUTS2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of AUTS2 mRNA	27392435
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of AUTS2 mRNA	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of AUTS2 mRNA	20655997
D007545	Isoproterenol	Isoproterenol results in decreased expression of AUTS2 mRNA	20003209
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of AUTS2 mRNA	27392435
D007854	Lead	Lead affects the splicing of AUTS2 mRNA	28903495
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of AUTS2 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of AUTS2 mRNA	23179753\|2718838
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of AUTS2 mRNA	23649840
D018817	N-Methyl-3,4-methylenedioxyamphetamine	"N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of AUTS2 mRNA"	20188158
C029938	nickel sulfate	nickel sulfate results in increased expression of AUTS2 mRNA	22714537
D010656	Phenylephrine	Phenylephrine results in decreased expression of AUTS2 mRNA	18158353
D010662	Phenylmercuric Acetate	"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of AUTS2 mRNA"	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of AUTS2 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in increased expression of AUTS2 mRNA	20813756
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of AUTS2 mRNA	23608068
D011441	Propylthiouracil	Propylthiouracil results in increased expression of AUTS2 mRNA	24780913
C059514	resveratrol	[Coumestrol co-treated with resveratrol] results in decreased expression of AUTS2 mRNA	19167446
C017947	sodium arsenite	sodium arsenite affects the methylation of AUTS2 gene	28589171
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of AUTS2 mRNA	25172293
C009495	titanium dioxide	titanium dioxide results in decreased expression of AUTS2 mRNA	23557971
C024746	tobacco tar	tobacco tar results in decreased expression of AUTS2 mRNA	19559774
D019772	Topotecan	AUTS2 protein affects the susceptibility to Topotecan	16217747
D014212	Tretinoin	Tretinoin results in increased expression of AUTS2 mRNA	18230668
D014212	Tretinoin	Tretinoin results in increased expression of AUTS2 mRNA	23830798
C012589	trichostatin A	trichostatin A results in decreased expression of AUTS2 mRNA	24935251
D014635	Valproic Acid	Valproic Acid affects the expression of AUTS2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of AUTS2 mRNA	19101580\|2493525
D014635	Valproic Acid	Valproic Acid results in increased expression of AUTS2 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in increased methylation of AUTS2 gene	29154799
C025643	vinclozolin	vinclozolin affects the expression of AUTS2 mRNA	19015723
D014810	Vitamin E	Vitamin E results in decreased expression of AUTS2 mRNA	19244175
D024483	Vitamin K 3	Vitamin K 3 affects the expression of AUTS2 mRNA	20044591
C111237	vorinostat	vorinostat results in decreased expression of AUTS2 mRNA	27188386

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0003674	molecular_function	-	ND	-
GO:0003682	chromatin binding	-	IDA	25519132
GO:0005515	protein binding	-	IPI	25519132 27705803

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0001764	neuron migration	-	ISS	-
GO:0006351	transcription, DNA-templated	-	IEA	-
GO:0008150	biological_process	-	ND	-
GO:0010592	positive regulation of lamellipodium assembly	-	ISS	-
GO:0031532	actin cytoskeleton reorganization	-	ISS	-
GO:0035022	positive regulation of Rac protein signal transduction	-	ISS	-
GO:0045944	positive regulation of transcription by RNA polymerase II	-	IDA	25519132
GO:0048675	axon extension	-	ISS	-
GO:0051571	positive regulation of histone H3-K4 methylation	-	IDA	25519132
GO:0097484	dendrite extension	-	ISS	-
GO:2000620	positive regulation of histone H4-K16 acetylation	-	IDA	25519132

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005575	cellular_component	-	ND	-
GO:0005634	nucleus	-	IEA	-
GO:0005737	cytoplasm	-	IEA	-
GO:0015629	actin cytoskeleton	colocalizes_with	ISS	-
GO:0030426	growth cone	-	ISS	-

KEGG ID	KEGG Term

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8878171	Transcriptional regulation by RUNX1	TAS
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal
26763194	Association between AUTS2 haplotypes and alcohol dependence in a Japanese population. (2016 Aug)	Narita S	Acta Neuropsychiatr
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. (2013 Oct)	Kapoor M	Hum Genet
22995765	Genetic analysis of AUTS2 as a susceptibility gene of heroin dependence. (2013 Mar 1)	Chen YH	Drug Alcohol Depend
23712313	Genetics and alcoholism. (2013 Aug)	Edenberg HJ	Nat Rev Gastroenterol Hepatol
28485404	Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. (2017 Sep)	Jorgenson E	Mol Psychiatry
29042895	No Association between the Polymorphism rs6943555 in the AUTS2 Gene and Personality Traits in Japanese University Students. (2017 Sep)	Narita S	Psychiatry Investig