Entry |
|
Symbol |
GJB2, BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
|
Name |
(RefSeq) gap junction protein beta 2
|
KO |
K07621 | gap junction beta-2 protein |
|
Organism |
|
Disease |
H00604 | Deafness, autosomal dominant |
H00605 | Deafness, autosomal recessive |
H00716 | Palmoplantar keratoderma with deafness |
|
Brite |
KEGG Orthology (KO) [BR:hsa00001]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:hsa02000]
2706 (GJB2)
Transporters [BR:hsa02000]
Other transporters
Pores ion channels [TC:1]
2706 (GJB2)
|
SSDB |
|
Motif |
|
Other DBs |
|
Structure |
|
LinkDB |
|
Position |
13:complement(20187470..20192938)
|
AA seq |
226 aa
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGC
KNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEE
IKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDC
FVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV |
NT seq |
681 nt +upstreamnt +downstreamnt
atggattggggcacgctgcagacgatcctggggggtgtgaacaaacactccaccagcatt
ggaaagatctggctcaccgtcctcttcatttttcgcattatgatcctcgttgtggctgca
aaggaggtgtggggagatgagcaggccgactttgtctgcaacaccctgcagccaggctgc
aagaacgtgtgctacgatcactacttccccatctcccacatccggctatgggccctgcag
ctgatcttcgtgtccacgccagcgctcctagtggccatgcacgtggcctaccggagacat
gagaagaagaggaagttcatcaagggggagataaagagtgaatttaaggacatcgaggag
atcaaaacccagaaggtccgcatcgaaggctccctgtggtggacctacacaagcagcatc
ttcttccgggtcatcttcgaagccgccttcatgtacgtcttctatgtcatgtacgacggc
ttctccatgcagcggctggtgaagtgcaacgcctggccttgtcccaacactgtggactgc
tttgtgtcccggcccacggagaagactgtcttcacagtgttcatgattgcagtgtctgga
atttgcatcctgctgaatgtcactgaattgtgttatttgctaattagatattgttctggg
aagtcaaaaaagccagtttaa |