GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: KCNC2

id3747
symbolKCNC2
organismHomo sapiens
full namepotassium voltage-gated channel subfamily C member 2
summaryThe Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
variant-disease

GRCh37/hg19 12q21.1(chr12:75593940-75654740)x1 AND not provided

GRCh37/hg19 12q21.1(chr12:75458483-75468250)x0 AND not provided

GRCh37/hg19 12q21.1-21.2(chr12:75417919-76110508)x3 AND not provided

GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3 AND See cases

GRCh37/hg19 12q21.1-21.2(chr12:75421038-76110751)x3 AND not provided

... 12 more


Partner site page.capturescreenshot on site-shot.com.