KEGG   Homo sapiens (human): 2706Help
Entry
2706              CDS       T01001                                 

Gene name
GJB2, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
Definition
gap junction protein, beta 2, 26kDa
Orthology
K07621  
gap junction protein, beta 2
Organism
hsa  Homo sapiens (human)
Disease
H00604  
Deafness, autosomal dominant
H00605  
Deafness, autosomal recessive
H00706  
Bart-Pumphrey syndrome
H00712  
Keratitis-ichthyosis-deafness syndrome
H00714  
Vohwinkel syndrome
H00716  
Palmoplantar keratoderma with deafness
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
13q11-q12
AA seq 226 aa AA seqDB search
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGC
KNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEE
IKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDC
FVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV
NT seq 681 nt NT seq  +upstreamnt  +downstreamnt
atggattggggcacgctgcagacgatcctggggggtgtgaacaaacactccaccagcatt
ggaaagatctggctcaccgtcctcttcatttttcgcattatgatcctcgttgtggctgca
aaggaggtgtggggagatgagcaggccgactttgtctgcaacaccctgcagccaggctgc
aagaacgtgtgctacgatcactacttccccatctcccacatccggctatgggccctgcag
ctgatcttcgtgtccacgccagcgctcctagtggccatgcacgtggcctaccggagacat
gagaagaagaggaagttcatcaagggggagataaagagtgaatttaaggacatcgaggag
atcaaaacccagaaggtccgcatcgaaggctccctgtggtggacctacacaagcagcatc
ttcttccgggtcatcttcgaagccgccttcatgtacgtcttctatgtcatgtacgacggc
ttctccatgcagcggctggtgaagtgcaacgcctggccttgtcccaacactgtggactgc
tttgtgtcccggcccacggagaagactgtcttcacagtgttcatgattgcagtgtctgga
atttgcatcctgctgaatgtcactgaattgtgttatttgctaattagatattgttctggg
aagtcaaaaaagccagtttaa

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