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
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Evidence Statistic Top

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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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