KEGG   Homo sapiens (human): 2706
Entry
2706              CDS       T01001                                 
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
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
H00706  Bart-Pumphrey syndrome
H00712  KID/HID syndrome
H00714  Vohwinkel syndrome
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
Pfam: Connexin
Other DBs
NCBI-GeneID: 2706
NCBI-ProteinID: NP_003995
OMIM: 121011
HGNC: 4284
Ensembl: ENSG00000165474
UniProt: P29033 H9U1J4
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

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