AutismKB

Evidence Detail for EN2


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Basic Information Top
Gene Symbol:EN2 ( - )
Gene Full Name: engrailed homeobox 2
Band: 7q36
Quick LinksEntrez ID:2020; OMIM: 131310; Uniprot ID:HME2_HUMAN; ENSEMBL ID: ENSG00000164778
Sequences Top
>EN2|2020|nucleotide
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>EN2|2020|protein
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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
Case Control Based Association Studies: 3
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Petit, 1995_1 USA 2 (detail) 100
(34.00%)
AD 7.33
(2-16)
- 100
(46.00%)
8.17
-
ASIAN
Yang, 2008_1 China 2 (detail) 184
(-)
ASD 7.06±4.35
-
- 409
(-)
45.14±14
-
Yang, 2008_2 China 2 (detail) 184
(-)
ASD 7.06±4.35
-
- 225
(-)
18.82±5.36
-
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
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 bloodASD 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
CNV Studies Top
Linkage Studies Top

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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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