AutismKB

Evidence Detail for CHRNA4


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Basic Information Top
Gene Symbol:CHRNA4 ( BFNC,EBN,EBN1,FLJ95812,NACHR,NACHRA4,NACRA4 )
Gene Full Name: cholinergic receptor, nicotinic, alpha 4
Band: 20q13.2-q13.3
Quick LinksEntrez ID:1137; OMIM: 118504; Uniprot ID:ACHA4_HUMAN; ENSEMBL ID: ENSG00000101204
Sequences Top
>CHRNA4|1137|nucleotide
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>CHRNA4|1137|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 (3) 0 (0) 0 (0) 2 (3) 16 (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
Martin-Ruiz, 2004_1 human corticalAD RNA expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: Quantitative RT-PCR
  • Evidence Details: There was a significant (threefold) reduction ( p = 0.047) in the ratio of a4 nAChR to GAPDH mRNA expression in parietal cortex BA39 for autism samples when compared to controls.
Martin-Ruiz, 2004_1 human corticalAD protein expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: western blotting
  • Evidence Details: Results on specific nAChR subunit protein expression paralleled those obtained on ligand binding showing a 75% decrease in autism in both a4 and h2 nAChR subunit immunoreactivities in parietal cortex, which was significant for a4 (for h2, p = 0.083)
Martin-Ruiz, 2004_1 human corticalAD protein function
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: receptor autoradiography
  • Evidence Details: in parietal cortex the main receptor subtype involved is the a4b2 receptor, as we found reductions in autism in protein expression (a4 and b2), a4b2-related receptor binding activity and mRNA levels (a4).
Martin-Ruiz, 2004_2 human cerebellarAD RNA expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: Quantitative RT-PCR
  • Evidence Details: In the cerebellum, there was a significant twofold increase in the ratio of a4 to GAPDH expression in autistic samples
Martin-Ruiz, 2004_2 human cerebellarAD protein expression
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: western blotting
  • Evidence Details: In cerebellum there was also a significant 74% reduction in a4 subunit expression, that was paralleled by a nonsignificant 35% reduction in h2 subunit
Martin-Ruiz, 2004_2 human cerebellarAD protein function
  • Subjects: 6 adults (age (years) 26.5±4.8)
  • Normal Controls: 8 controls (age (years) 30.5
  • Methods: receptor autoradiography
  • Evidence Details: in autism there is a decreased a4 protein expression (and in a lesser extent also b2) and a4b2 receptor binding activity
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000155 20 20q13.33 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000696 20 20q13.33 Loss - - CNVs Not Present In Control; Berkel, 2010
AutCNV0004382 20 20q13.33 gain 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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