AutismKB

Evidence Detail for BCL2


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Basic Information Top
Gene Symbol:BCL2 ( Bcl-2 )
Gene Full Name: B-cell CLL/lymphoma 2
Band: 18q21.33|18q21.3
Quick LinksEntrez ID:596; OMIM: 151430; Uniprot ID:BCL2_HUMAN; ENSEMBL ID: ENSG00000171791
Sequences Top
>BCL2|596|nucleotide
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>BCL2|596|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 (0) 0 (0) 1 (2) 0 (0) 0 (0) 3 (3) 23 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Fatemi, 2001_1 human blood--AD protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: Western blot
  • Evidence Details: Quantification of Bcl-2 levels showed a 34% to 51% reduction in autistic cerebellum (M +/- SD per 75 microg protein 0.29 +/- 0.08; N = 5) compared with controls (M +/- SD per 75 microg protein 0.59 +/- 0.31; N = 8, p < 0.0451)
Sheikh, 2009_1 human brain tissueASD protein expression
  • Subjects: 7
  • Normal Controls: 7
  • Methods: Western blotting
  • Evidence Details: The expression of the anti-apoptotic protein Bcl-2 was significantly decreased in the cerebellum of autistic subjects.
Malik, 2010_1 human lymphoblastsASD protein expression & RNA expression
  • Subjects: 6
  • Normal Controls: 6
  • Methods: western blot, northern blot
  • Evidence Details: We found that Bcl2 and cathepsin D mRNA and protein expression were significantly increased in autistic lymphoblast
Sheikh, 2010_1 human brainautism protein expression
  • Subjects: 9
  • Normal Controls: 9
  • Methods: western blot, ELISA
  • Evidence Details: Our studies show that Bcl2 is significantly decreased, whereas the expression of p53 is increased, in the brain of autistic subjects in comparison with age-matched controls. We also found that the expression and phosphorylation/activation of Akt kinase that regulates Bcl2 are significantly decreased in the autistic brain. The down-regulation of Akt may result from a decreased concentration of brain-derived neurotrophic factor (BDNF), the growth factor that modulates Akt activities.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000154 18 18q21.32-23 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0004366 18 18q21.32-q23 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
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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