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
  KO
K07621  gap junction beta-2 protein
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
H01673  Palmoplantar keratoderma
Brite
Transporters [BR:hsa02000]
 Other Transporters
  Pores ion channels [TC:1]
   2706 (GJB2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Connexin
Motif
Other DBs
NCBI-GeneID: 2706
NCBI-ProteinID: NP_003995
OMIM: 121011
HGNC: 4284
Ensembl: ENSG00000165474
Vega: OTTHUMG00000016513
Pharos: P29033(Tbio)
UniProt: P29033 H9U1J4
Structure
PDB: 

Jmol
Position
13q12.11
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

DBGET integrated database retrieval system