Overview

Variant ID 8251
Entrez Gene ID 3781
Gene KCNN2 (GeneCards)
Location hg19 5:113732424-113732424
hg38 5:114396727-114396727
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000005.9:g.113732424 T>G (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 180915260

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2884
CADD Raw score (version 1.3) -0.042076 (Deleterious)
FATHMM raw prediction score 0.1089 (Tolerated)
Deleterious probability by DeFine 0.0579 (Neutral)
Entrez Gene ID 3781 (NCBI Gene)
Official Gene Symbol KCNN2 (GeneCards)
Number of variants in KCNN2 in this database 2 (view all the variants)
Full name potassium calcium-activated channel subfamily N member 2
Band 5q22.3
Other IDs Vega: OTTHUMG00000128836
OMIM: 605879
HGNC: HGNC:6291
Ensembl: ENSG00000080709
Other names SK2, hSK2, SKCA2, KCa2.2, SKCa2
Summary Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Individual #1

Individual ID 29217584.13 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;