Gene info: ID 26047

Gene: CNTNAP2

GENE ID: 26047

Synonyms: AUTS15|CASPR2|CDFE|NRXN4|PTHSL1

Description: contactin associated protein like 2

Gene type: protein-coding

Location: 7q35-q36.1

dbXrefs: Ensembl:ENSG00000174469 MIM:604569 Vega:OTTHUMG00000152743 UniprotKB:Q9UHC6

RefSeq: NG_007092.2

Retrived from: PubMed|SNP Mapped

SNPs: 5 ANCO-SNPs

Phenotype: ND|AD

# Publications: 7

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

Pascal p-value : 1.882e-1 (AD) 8.730e-1 (ND)

ANCO-SNPs

SNP ID	Position	Alleles	Trait	Variation Type
rs11771941	chr7:147982443 (GRCh38.p7)	G>A	nicotine dependence	SNV(Single Nucleotide Variation)
rs2178771	chr7:147966400 (GRCh38.p7)	T>G	nicotine dependence	SNV(Single Nucleotide Variation)
rs2707592	chr7:147963361 (GRCh38.p7)	A>G	nicotine dependence	SNV(Single Nucleotide Variation)
rs851712	chr7:147831639 (GRCh38.p7)	A>G	nicotine dependence	SNV(Single Nucleotide Variation)
rs10279700	chr7:147271203 (GRCh38.p7)	T>C	alcohol dependence	SNV(Single Nucleotide Variation)

DNA Methylation

Probe	Locus(GRCh37)	Gene	Region	p-val	Trait	PubMed ID
cg25949550	chr7:145814306	CNTNAP2		2.870e-66	Maternal smoking in pregnancy	27040690
cg11207515	chr7:146904205	CNTNAP2		6.260e-12	Maternal smoking in pregnancy	27040690
cg16254309	chr7:145814152	CNTNAP2		3.340e-9	Maternal smoking in pregnancy	27040690
cg25949550	chr7:145814306	CNTNAP2		1.680e-119	Maternal smoking in pregnancy	27040690
cg11207515	chr7:146904205	CNTNAP2		1.930e-17	Maternal smoking in pregnancy	27040690
cg16254309	chr7:145814152	CNTNAP2		1.040e-14	Maternal smoking in pregnancy	27040690
cg21322436	chr7:145812842	CNTNAP2		3.830e-13	Maternal smoking in pregnancy	27040690
cg25949550	chr7:145814306	CNTNAP2		1.270e-115	Maternal smoking in pregnancy	27040690
cg11207515	chr7:146904205	CNTNAP2		1.500e-21	Maternal smoking in pregnancy	27040690
cg16254309	chr7:145814152	CNTNAP2		1.630e-14	Maternal smoking in pregnancy	27040690
cg21322436	chr7:145812842	CNTNAP2		2.400e-13	Maternal smoking in pregnancy	27040690
cg25949550	chr7:145814306	CNTNAP2		2.970e-9	Maternal smoking in pregnancy	27040690
cg11207515	chr7:146904205	CNTNAP2		1.640e-12	Maternal smoking in pregnancy	27040690
cg25949550	chr7:145814306	CNTNAP2		9.000e-25	Smoking	27651444
cg11207515	chr7:146904205	CNTNAP2		1.500e-18	Smoking	27651444
cg21322436	chr7:145812842	CNTNAP2		3.500e-18	Smoking	27651444
cg17372101	chr7:147500722	CNTNAP2		3.300e-14	Smoking	27651444
cg18804920	chr7:146572638	CNTNAP2		1.000e-9	Smoking	27651444
cg16254309	chr7:145814152	CNTNAP2		4.900e-9	Smoking	27651444
cg25949550	chr7:145814306	CNTNAP2		2.780e-21	Tobacco smoking	28225026
cg21322436	chr7:145812842	CNTNAP2		2.230e-20	Tobacco smoking	28225026
cg11207515	chr7:146904205	CNTNAP2		5.260e-17	Tobacco smoking	28225026
cg17372101	chr7:147500722	CNTNAP2		1.160e-8	Tobacco smoking	28225026
cg21322436	chr7:145812842	CNTNAP2		4.350e-26	Smoking	28686328
cg25949550	chr7:145814306	CNTNAP2		1.600e-15	Smoking	28686328
cg11207515	chr7:146904205	CNTNAP2		4.250e-12	Smoking	28686328
cg17372101	chr7:147500722	CNTNAP2		1.740e-9	Smoking	28686328

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
GABRB2	0.975
DLGAP1	0.974
SYT13	0.972
GABRA1	0.972
FGF12	0.972
MYT1L	0.971
SNAP91	0.971
NEGR1	0.97
AAK1	0.97
RBFOX1	0.97

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
HEY2	-0.548
CSAG1	-0.541
RAB13	-0.538
MYL3	-0.532
RNF135	-0.526
REST	-0.523
RAI14	-0.522
CMTM3	-0.52
WWTR1	-0.514
CHST14	-0.513

There is no DrugBank record for this gene !

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CNTNAP2 mRNA"	25510870
C511295	2,2',4,4'-tetrabromodiphenyl ether	"2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of CNTNAP2 mRNA"	25614096
C081766	2,4,4'-trichlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CNTNAP2 mRNA"	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CNTNAP2 mRNA"	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CNTNAP2 mRNA"	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CNTNAP2 mRNA"	25510870
C030370	2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone	"2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone results in increased expression of CNTNAP2 mRNA"	20206263
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of CNTNAP2 mRNA	16788091
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	"[NOG protein co-treated with trichostatin A 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 CNTNAP2 mRNA"	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	"[NOG protein co-treated with Valproic Acid 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 CNTNAP2 mRNA"	27188386
C516138	(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine	"[NOG protein co-treated with trichostatin A 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 CNTNAP2 mRNA"	27188386
C516138	(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine	"[NOG protein co-treated with Valproic Acid 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 CNTNAP2 mRNA"	27188386
D000082	Acetaminophen	Acetaminophen results in increased expression of CNTNAP2 mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of CNTNAP2 mRNA	21641981
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of CNTNAP2 gene	27153756
D001151	Arsenic	Arsenic affects the methylation of CNTNAP2 gene	25304211
C044887	beta-methylcholine	beta-methylcholine affects the expression of CNTNAP2 mRNA	21179406
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of CNTNAP2 mRNA	19549813
D003367	Cotinine	Cotinine affects the methylation of CNTNAP2 gene	22851337
D002945	Cisplatin	CNTNAP2 protein affects the susceptibility to Cisplatin	16217747
D004041	Dietary Fats	Dietary Fats results in increased expression of CNTNAP2 mRNA	18042831
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of CNTNAP2 mRNA	21527772
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CNTNAP2 mRNA	17942748
D004397	Fonofos	Fonofos results in increased methylation of CNTNAP2 promoter	22847954
C492448	ICG 001	ICG 001 results in decreased expression of CNTNAP2 mRNA	26191083
C008261	lead acetate	lead acetate results in decreased expression of CNTNAP2 mRNA	20542052
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of CNTNAP2 mRNA	28001369
D000073878	Palm Oil	Palm Oil results in increased expression of CNTNAP2 mRNA	18042831
D010278	Parathion	Parathion results in increased methylation of CNTNAP2 promoter	22847954
C410127	PCB 180	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CNTNAP2 mRNA"	25510870
D011192	Potassium Dichromate	Potassium Dichromate affects the expression of CNTNAP2 mRNA	23608068
D011374	Progesterone	Progesterone results in decreased expression of CNTNAP2 mRNA	22238285
C043680	ptaquiloside	ptaquiloside results in decreased expression of CNTNAP2 mRNA	23274088
C017947	sodium arsenite	sodium arsenite affects the methylation of CNTNAP2 gene	28589171
C012568	terbufos	terbufos results in increased methylation of CNTNAP2 promoter	22847954
D013739	Testosterone	Testosterone results in decreased expression of CNTNAP2 mRNA	20403060
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CNTNAP2 mRNA	17942748
D019284	Thapsigargin	Thapsigargin results in increased expression of CNTNAP2 mRNA	22378314
D013849	Thimerosal	Thimerosal results in decreased expression of CNTNAP2 mRNA	27188386
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the methylation of CNTNAP2 gene	26756918
C024746	tobacco tar	tobacco tar results in decreased expression of CNTNAP2 mRNA	19559774
D014212	Tretinoin	Tretinoin results in decreased expression of CNTNAP2 mRNA	21934132\|2372400
C012589	trichostatin A	"[NOG protein co-treated with trichostatin A 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 CNTNAP2 mRNA"	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of CNTNAP2 mRNA	24935251\|2627250
D014520	Urethane	Urethane results in decreased expression of CNTNAP2 mRNA	28818685
D014635	Valproic Acid	"[NOG protein co-treated with Valproic Acid 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 CNTNAP2 mRNA"	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of CNTNAP2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of CNTNAP2 mRNA	24383497\|2627250
D014635	Valproic Acid	Valproic Acid results in increased expression of CNTNAP2 mRNA	19101580\|2317975
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of CNTNAP2 gene	25560391
D024483	Vitamin K 3	Vitamin K 3 affects the expression of CNTNAP2 mRNA	20044591
C111237	vorinostat	vorinostat results in decreased expression of CNTNAP2 mRNA	27188386

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005515	protein binding	-	IPI	25416956 26721881
GO:0019899	enzyme binding	-	IPI	19166515

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0007155	cell adhesion	-	IEA	-
GO:0007420	brain development	-	TAS	10624965
GO:0007612	learning	-	IMP	18179893
GO:0008038	neuron recognition	-	NAS	10624965
GO:0019226	transmission of nerve impulse	-	NAS	11352571
GO:0021756	striatum development	-	IEP	18179893
GO:0021761	limbic system development	-	IEP	18179895
GO:0021794	thalamus development	-	IEP	18179893
GO:0021987	cerebral cortex development	-	IEP	18179893 18987363
GO:0030534	adult behavior	-	IMP	18179893
GO:0031175	neuron projection development	-	ISS	-
GO:0035176	social behavior	-	IMP	18179893 19896112
GO:0042297	vocal learning	-	IMP	19896112
GO:0045163	clustering of voltage-gated potassium channels	-	ISS	-
GO:0048812	neuron projection morphogenesis	-	ISS	-
GO:0071109	superior temporal gyrus development	-	IEP	18179893
GO:0071205	protein localization to juxtaparanode region of axon	-	ISS	-
GO:0071625	vocalization behavior	-	IMP	18179893 19896112

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005769	early endosome	-	IDA	19706678
GO:0005794	Golgi apparatus	-	IDA	19166515
GO:0008076	voltage-gated potassium channel complex	-	IDA	10624965
GO:0008076	voltage-gated potassium channel complex	-	NAS	10624965
GO:0009986	cell surface	-	IDA	19706678
GO:0016020	membrane	-	IDA	10624965
GO:0016021	integral component of membrane	-	NAS	11352571
GO:0030424	axon	-	NAS	19706678
GO:0030425	dendrite	-	NAS	10624965
GO:0030673	axolemma	-	IDA	19706678
GO:0033010	paranodal junction	-	IEA	-
GO:0043025	neuronal cell body	-	NAS	10624965
GO:0043204	perikaryon	-	NAS	19166515
GO:0044224	juxtaparanode region of axon	-	ISS	-

KEGG ID	KEGG Term
hsa04514	Cell adhesion molecules (CAMs)

Reactome ID	Reactome Term	Evidence

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

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

PMID	Title (Year)	Author	Journal
25862628	DNA methylation mediates the effect of maternal smoking during pregnancy on birthweight of the offspring. (2015 Aug)	Kupers LK	Int J Epidemiol
22083596	Stool DNA testing for the detection of pancreatic cancer: assessment of methylation marker candidates. (2012 May 15)	Kisiel JB	Cancer
25041903	TARV: tree-based analysis of rare variants identifying risk modifying variants in CTNNA2 and CNTNAP2 for alcohol addiction. (2014 Sep)	Song C	Genet Epidemiol
25552657	Prenatal exposure to maternal smoking and offspring DNA methylation across the lifecourse: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC). (2015 Apr 15)	Richmond RC	Hum Mol Genet
27171005	Maternal Smoking during Pregnancy and DNA-Methylation in Children at Age 5.5 Years: Epigenome-Wide-Analysis in the European Childhood Obesity Project (CHOP)-Study. (2016)	Rzehak P	PLoS One
25325234	Prenatal exposure to maternal cigarette smoking and DNA methylation: epigenome-wide association in a discovery sample of adolescents and replication in an independent cohort at birth through 17 years of age. (2015 Feb)	Lee KW	Environ Health Perspect
29695247	Impact on birth weight of maternal smoking throughout pregnancy mediated by DNA methylation. (2018 Apr 25)	Witt SH	BMC Genomics