Search by BoMiProt ID - Bomi5938


Primary Information

BoMiProt ID Bomi5938
Protein Name Gap junction beta-2 protein/Connexin-26
Organism Bos taurus
Uniprot IdA2VE67
Milk FractionWhey
Ref Sequence Id NP_001077106.1
Aminoacid Length 226
Molecular Weight 26194
Fasta Sequence https://www.uniprot.org/uniprot/A2VE67.fasta
Gene Name GJB2
Gene Id 407154
Protein Existence Status reviewed

Secondary Information

Protein Function is essential for maintaining the high K+ concentration in the endolymph of the inner ear.consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
PTMs Disulfide bond formation
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
NA
Predicted Disorder Regions (219-226)
DisProt Annotation
TM Helix Prediction no TM helices
Additional Comments Hearing impirment due to mutation of this gene.
Bibliography Kemperman, M. H., Hoefsloot, L. H., & Cremers, C. W. (2002). Hearing loss and connexin 26. Journal of the Royal Society of Medicine, 95(4), 171–177. https://doi.org/10.1258/jrsm.95.4.171