Contents

GJB2 Gene

🧬 Gene Info

Gene Symbol	GJB2
Chromosome	13q11-13
Protein Family	Connexin family
Protein Type	Channel
Function	During sound stimulation, potassium ions enter hair cells and must be recycled back to the endolymph through supporting cells expressing GJB2.
Subcellular Localization	Plasma membrane (gap junction)
Molecular Weight	26.2 kDa
UniProt ID	P29033
GeneCards	GJB2
Human Protein Atlas	GJB2
Four transmembrane domains	Form the channel pore
N- and C-terminal tails	Located in cytoplasm
Extracellular loops	Mediate docking with neighboring cells
Intracellular loop	Contains regulatory sites
Associated Diseases	neurodegeneration
Databases	GeneCards NCBI Gene HPA STRING

Knowledge Graph