GJB6
entrez
10804
canonical
uniprot
O95452
canonical
ensembl
ENSG00000121742
resolver
ensp
ENSP00000241124
resolver
ensp
ENSP00000382938
resolver
ensp
ENSP00000382939
resolver
ensp
ENSP00000489698
resolver
ensp
ENSP00000493621
resolver
ensp
ENSP00000493834
resolver
ensp
ENSP00000494468
resolver
ensp
ENSP00000494733
resolver
ensp
ENSP00000495320
resolver
ensp
ENSP00000495841
resolver
ensp
ENSP00000579845
resolver
ensp
ENSP00000579846
resolver
ensp
ENSP00000637164
resolver
ensp
ENSP00000637165
resolver
ensp
ENSP00000637166
resolver
ensp
ENSP00000637167
resolver
enst
ENST00000241124
resolver
enst
ENST00000400065
resolver
enst
ENST00000400066
resolver
enst
ENST00000636852
resolver
enst
ENST00000643121
resolver
enst
ENST00000643211
resolver
enst
ENST00000644283
resolver
enst
ENST00000644667
resolver
enst
ENST00000647029
resolver
enst
ENST00000647243
resolver
enst
ENST00000909786
resolver
enst
ENST00000909787
resolver
enst
ENST00000967105
resolver
enst
ENST00000967106
resolver
enst
ENST00000967107
resolver
enst
ENST00000967108
resolver
genesymbol
GJB6
resolver
hgnc
HGNC:4288
resolver
uniprot
B3KQN2
resolver
uniprot
Q5Q1H9
resolver
uniprot
Q5Q1I0
resolver
uniprot
Q5Q1I1
resolver
uniprot
Q5T5U0
resolver
uniprot
Q8IUP0
resolver
uniprot_entry
CXB6_HUMAN
resolver
uniprot_sec
B3KQN2
resolver
uniprot_sec
Q5Q1H9
resolver
uniprot_sec
Q5Q1I0
resolver
uniprot_sec
Q5Q1I1
resolver
uniprot_sec
Q5T5U0
resolver
uniprot_sec
Q8IUP0
resolver
amino_acid_sequence
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to 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. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases. {ECO:0000269|PubMed:11017065, ECO:0000269|PubMed:11874494}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: A form of non-syndromic 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. {ECO:0000269|PubMed:11807148, ECO:0000269|PubMed:15994881}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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. {ECO:0000269|PubMed:10471490}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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.
uniprot
proteins
mass_dalton
30387
uniprot
proteins
protein_family
Beta-type (group I) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
10471490
uniprot
proteins
pubmed
10610709
uniprot
proteins
pubmed
11017065
uniprot
proteins
pubmed
11807148
uniprot
proteins
pubmed
11874494
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15792634
uniprot
proteins
pubmed
15994881
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
19416251
uniprot
proteins
sequence_length
261
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
uniprot
proteins
transmembrane_region
TRANSMEM 23..45; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 76..98; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 132..154; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 193..215; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins