| Variant ID | 29248 |
|---|---|
| Entrez Gene ID | 3781 |
| Gene | KCNN2 (GeneCards) |
| Location | hg19 5:113698851-113698851
hg38 5:114363154-114363154 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000005.9:g.113698851 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 2.0075 |
| CADD Raw score (version 1.3) | 1.133222 (Deleterious) |
| FATHMM raw prediction score | 0.92902 (Tolerated) |
| Deleterious probability by DeFine | 0.8198 (Deleterious) |
| 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 ID | 28503910.125 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |