Evidence Detail for EN2

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Basic Information Top

Gene Symbol:	EN2 ( - )
Gene Full Name:	engrailed homeobox 2
Band:	7q36
Quick Links	Entrez ID:2020; OMIM: 131310; Uniprot ID:HME2_HUMAN; ENSEMBL ID: ENSG00000164778

Sequences Top

nucleotide Sequence
Protein Sequence

>EN2|2020|nucleotide
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	Expression	CNV	Linkage	Low Scale Association	Other Studies	Total
Score (No. of Studies)	No	0 (1)	0 (0)	0 (0)	0 (0)	3 (12)	3 (4)	30 (20)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 9

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Zhong, 2003_1	AGRE	1 (detail)	196	437 (-)			ASD	- -	- -
Gharani, 2004_1	AGRE	4 (detail)	167	167 (-)			ASD	- -	- -
Benayed, 2005_1	AGRE	16 (detail)	167	- (-)			ASD	- -	- -
Benayed, 2005_3	NIMH	2 (detail)	129	- (-)			ASD	- -	- -
Benayed, 2005_2	AGRE	2 (detail)	222	- (-)			ASD	- -	- -
Carayol, 2010_1	USA	1 (detail)	222	527 (22.22%)			autism	- -	- -
Sen, 2010_1	India	4 (detail)	128	128 (17.19%)			ASD	5.98±3.1 -	- -
ASIAN
Wang, 2008_1	China	8 (detail)	210	210 (6.67%)			AD	6.5 (2-17)	- -
MIXED/OTHERS
Brune, 2008_1	USA	1 (detail)	643	- (-)			ASD,AD	- -	- -

Case Control Based Association Studies: 3

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Petit, 1995_1	USA	2 (detail)	100 (34.00%)			AD	7.33 (2-16)	-	100 (46.00%)	8.17 -
ASIAN
Yang, 2008_2	China	2 (detail)	184 (-)			ASD	7.06±4.35 -	-	225 (-)	18.82±5.36 -
Yang, 2008_1	China	2 (detail)	184 (-)			ASD	7.06±4.35 -	-	409 (-)	45.14±14 -

Genome-Wide Association Studies(By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Stage	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	1 (detail)	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level
Benayed, 2005_1	rat	E14.5 cell	-	-	-	RNA expression
Subjects: - Normal Controls: - Methods: Radioimmunoassays for beta-endorphin using C-terminally and N-terminally directed antisera Evidence Details: Risk alleles of human EN2 associated with ASD may potentially alter the spatial and/or emporal expression of the gene during brain development
Benayed, 2009_1	human	HEK293T cells	-	-	-	RNA expression
Subjects: - Normal Controls: - Methods: Luciferase Assays, quantitative rtPCR Evidence Details: For rs1861972-rs1861973 haplotypes (A-C and G-T), the A-C haplotype resulted in a significant increase in Luc levels compared with the G-T haplotype, in all three cell types and for both promoters.
Benayed, 2009_1	human	HEK293T cells	-	-	-	RNA regulation: splicing
Subjects: - Normal Controls: - Methods: Splicing Real-Time Polymerase Chain Reaction Evidence Details: Only amplicons of the correctly spliced transcripts were observed, indicating that neither haplotype resulted in cryptic splicing.
Benayed, 2009_2	mouse	P6 mouse granule neurons cultured for 24 hours	-	-	-	RNA regulation
Subjects: - Normal Controls: - Methods: Electrophoretic Mobility Shift Assays Evidence Details: Nuclear factors were bound specifically to the A and C (reference alleles of rs1861972 and rs1861973) alleles of both SNPs .
Carayol, 2011_1	human	blood			ASD	genetic score model
Subjects: 844(664 males and 179 females) Normal Controls: - Methods: TaqMan allele discrimination assays Evidence Details: Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects.
Choi, 2011_1	mouse	neurons	-	-	-	Animal model
Subjects: - Normal Controls: - Methods: Luc assays Evidence Details: "These data demostrate that the ASD-associated A-C haplotype is a transcriptional activator, and bothe CUX1 and NFIB mediate this acitivity"

Large Scale Expression Studies Top

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs	Evidence Type	Reference
Case	Control
No matched CNVs !

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 616
Genes: 3,075
SNPs/VNTRs: 3,386
CNVs: 4,617
Linkage Regions: 158
Last Update: 05/25/2012
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