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

Gene name
GJB2, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
Definition
(RefSeq) gap junction protein, beta 2, 26kDa
  KO
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
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
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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