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Protein Page:
GJB2 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
GJB2 One gap junction 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. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A). DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A). Defects in GJB2 are a cause of Vohwinkel syndrome (VS). VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness. Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN). PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. Defects in GJB2 are a cause of keratitis-ichthyosis- deafness syndrome (KID syndrome); an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS). BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome). HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. Belongs to the connexin family. Beta-type (group I) subfamily. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; Cell adhesion; Membrane protein, multi-pass; Membrane protein, integral
Cellular Component: connexon complex; plasma membrane; integral to membrane; ER-Golgi intermediate compartment; lateral plasma membrane
Molecular Function: gap junction channel activity
Biological Process: sensory perception of sound; gap junction assembly; cell-cell signaling; transport; male genitalia development; transmembrane transport
Reference #:  P29033 (UniProtKB)
Alt. Names/Synonyms: connexin 26; Connexin-26; Cx26; CXB2; DFNA3; DFNA3A; DFNB1; DFNB1A; Gap junction beta-2 protein; gap junction protein, beta 2, 26kDa; GJB2; HID; KID; NSRD1; PPK
Gene Symbols: GJB2
Molecular weight: 26,215 Da
Basal Isoelectric point: 9.11  Predict pI for various phosphorylation states
Select Structure to View Below

GJB2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 K15-ac TILGGVNkHSTSIGK
0 1 R75-me YFPISHIrLWALQLI
0 1 K102-ac VAYRRHEkkRkFIkG
0 1 K103-ac AYRRHEkkRkFIkGE
0 1 K105-ac RRHEkkRkFIkGEIk
0 1 K108-ac EkkRkFIkGEIkSEF
0 1 K108-ub EkkRkFIkGEIkSEF
0 1 K112-ac kFIkGEIkSEFkDIE
0 2 K112-ub kFIkGEIkSEFkDIE
0 1 K116-ac GEIkSEFkDIEEIkt
0 2 K116-ub GEIkSEFkDIEEIkt
0 2 K122-ub FkDIEEIktQKVRIE
0 1 T123-p kDIEEIktQKVRIEG
0 1 K125 IEEIktQKVRIEGSL
0 1 T177-p NAWPCPNtVDCFVsR
0 1 S183-p NtVDCFVsRPtEKTV
0 1 T186-p DCFVsRPtEKTVFTV
0 1 K221-me LIRYCSGkSkKPV__
0 1 K223-me RYCSGkSkKPV____
  mouse

 
K15 SILGGVNKHSTSIGK
R75 HFPISHIRLWALQLI
K102 VAYRRHEKKRKFMKG
K103 AYRRHEKKRKFMKGE
K105 RRHEKKRKFMKGEIk
K108 EKKRKFMKGEIkNEF
K108 EKKRKFMKGEIkNEF
K112 KFMKGEIKNEFkDIE
K112-ub KFMKGEIkNEFkDIE
K116 GEIkNEFKDIEEIkT
K116-ub GEIkNEFkDIEEIkT
K122-ub FkDIEEIkTQkVRIE
T123 kDIEEIkTQkVRIEG
K125-ac IEEIkTQkVRIEGSL
T177 NAWPCPNTVDCFISR
S183 NTVDCFISRPTEKTV
T186 DCFISRPTEKTVFTV
K221 FVRYCSGKSKRPV__
K223 RYCSGKSKRPV____
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