KEGG   Homo sapiens (human): 10804Help
Entry
10804             CDS       T01001                                 

Gene name
GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
Definition
(RefSeq) gap junction protein beta 6
  KO
K07625  gap junction beta-6 protein
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
H00648  Ectodermal dysplasia, Clouston type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    10804 (GJB6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Connexin
Motif
Other DBs
NCBI-GeneID: 10804
NCBI-ProteinID: NP_001103689
OMIM: 604418
HGNC: 4288
Ensembl: ENSG00000121742
Vega: OTTHUMG00000016515
Pharos: O95452(Tbio)
UniProt: O95452 A0A024RDS4
Position
13q12.11
AA seq 261 aa AA seqDB search
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGC
KNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIED
IKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDC
FISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS
NT seq 786 nt NT seq  +upstreamnt  +downstreamnt
atggattgggggacgctgcacactttcatcgggggtgtcaacaaacactccaccagcatc
gggaaggtgtggatcacagtcatctttattttccgagtcatgatcctcgtggtggctgcc
caggaagtgtggggtgacgagcaagaggacttcgtctgcaacacactgcaaccgggatgc
aaaaatgtgtgctatgaccactttttcccggtgtcccacatccggctgtgggccctccag
ctgatcttcgtctccaccccagcgctgctggtggccatgcatgtggcctactacaggcac
gaaaccactcgcaagttcaggcgaggagagaagaggaatgatttcaaagacatagaggac
attaaaaagcagaaggttcggatagaggggtcgctgtggtggacgtacaccagcagcatc
tttttccgaatcatctttgaagcagcctttatgtatgtgttttacttcctttacaatggg
taccacctgccctgggtgttgaaatgtgggattgacccctgccccaaccttgttgactgc
tttatttctaggccaacagagaagaccgtgtttaccatttttatgatttctgcgtctgtg
atttgcatgctgcttaacgtggcagagttgtgctacctgctgctgaaagtgtgttttagg
agatcaaagagagcacagacgcaaaaaaatcaccccaatcatgccctaaaggagagtaag
cagaatgaaatgaatgagctgatttcagatagtggtcaaaatgcaatcacaggtttccca
agctaa

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