Evidence Detail for KCNMA1

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Basic Information Top
Gene Symbol:KCNMA1 ( BKTM,DKFZp686K1437,KCa1.1,MGC71881,MaxiK,SAKCA,SLO,SLO-ALPHA,SLO1,bA205K10.1,mSLO1 )
Gene Full Name: potassium large conductance calcium-activated channel, subfamily M, alpha member 1
Band: 10q22.3
Quick LinksEntrez ID:3778; OMIM: 600150; Uniprot ID:KCMA1_HUMAN; ENSEMBL ID: ENSG00000156113
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 (1) 1 (1) 1 (1) 1 (1) 0 (0) 3 (3) 25 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
(% Women)
ADI-R ADOS Diagnosis Age
Hussman, 2011_1 Discovery 1 (detail) 597 -
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Laumonnier, 2006_1 human ---AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: FISH
  • Evidence Details: Findings revealed that the KCNMA1 gene, which encodes the alpha-subunit of the large conductance Ca(2+)-activated K(+) (BK(Ca)) channel, a synaptic regulator of neuronal excitability, is physically disrupted.
Laumonnier, 2006_2 human ---AD genetics: mutation screen
  • Subjects: 116
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: Further mutational analyses on 116 autistic subjects led to the identification of an amino acid substitution located in a highly conserved domain of the protein not found in comparison subjects.
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
-autism 16
1.10275 Up 24.5384
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2297765
  • 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
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0003321 10 10q22.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000036 10q22.3 10 D10S201 1.22 - - Monaco, 2001

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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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