AutismKB

Evidence Detail for PRKCB


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Basic Information Top
Gene Symbol:PRKCB ( MGC41878,PKC-beta,PKCB,PRKCB1,PRKCB2 )
Gene Full Name: protein kinase C, beta
Band: 16p11.2
Quick LinksEntrez ID:5579; OMIM: 176970; Uniprot ID:KPCB_HUMAN; ENSEMBL ID: ENSG00000166501
Sequences Top
>PRKCB|5579|nucleotide
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>PRKCB|5579|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) 3 (4) 0 (0) 0 (0) 2 (3) 1 (1) 16 (8)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 3
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Lintas, 2008_1 human temporocortical gray matter (BA41/42)--AD RNA expression
  • Subjects: 11
  • Normal Controls: 11
  • Methods: real-time PCR
  • Evidence Details: Temporocortical PRKCB1 gene expression was reduced on average by 35 and 31% for the PRKCB1-1 and PRKCB1-2 isoforms (P<0.01 and <0.05, respectively) according to qPCR
Lintas, 2008_1 human temporocortical gray matter (BA41/42)--AD protein expression
  • Subjects: 11
  • Normal Controls: 11
  • Methods: western blotting
  • Evidence Details: Protein amounts measured for the PKCbetaII isoform were similarly decreased by 35% (P=0.05).
Lintas, 2008_1 human temporocortical gray matter (BA41/42)--AD RNA expression
  • Subjects: 11
  • Normal Controls: 11
  • Methods: microarray
  • Evidence Details: Whole genome expression analysis unveiled a partial disruption in the coordinated expression of PKCbeta-driven genes, including several cytokines. These results confirm the association between autism and PRKCB1 gene variants, point toward PKCbeta roles in altered epithelial permeability, demonstrate a significant downregulation of brain PRKCB1 gene expression in autism and suggest that it could represent a compensatory adjustment aimed at limiting an ongoing dysreactive immune process.
Large Scale Expression Studies Top
Microarray Studies: 4
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_1 America lymphoblastoid cell lines 8
(-)
autism with FMR1-FMautism 15
(-)
1.21 Up 0.0000063
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_212535
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Nishimura, 2007_2 America lymphoblastoid cell lines 7
(-)
autism with dup(15q)autism 15
(-)
1.21 Up 0.0000063
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_212535
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.658273 Down 0.305455
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1713603
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.714466 Down 1.1752
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1716563
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.860797 Down 0.525872
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1713603
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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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