Entrez Gene ID | 23416 |
---|---|
Official Gene Symbol | KCNH3 (GeneCards) |
Full name | potassium voltage-gated channel subfamily H member 3 |
Location | 12q13.12 |
Other ids | Vega : OTTHUMG00000169517 MIM : 604527 HGNC : HGNC:6252 Ensembl : ENSG00000135519 |
Other names | BEC1, ELK2, Kv12.2 |
Summary | The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
30001 | 23416 | KCNH3 | 12 | 49937116 | 49937116 | Autism Spectrum Disorders | PASM |