KEGG   Homo sapiens (human): 10804
Entry
10804             CDS       T01001                                 
Symbol
GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
Name
(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)
SSDB
Motif
Pfam: Connexin
Other DBs
NCBI-GeneID: 10804
NCBI-ProteinID: NP_001103689
OMIM: 604418
HGNC: 4288
Ensembl: ENSG00000121742
UniProt: O95452 A0A024RDS4
Position
13:complement(20221962..20232319)
AA seq 261 aa
MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGC
KNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIED
IKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDC
FISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS
NT seq 786 nt   +upstreamnt  +downstreamnt
atggattgggggacgctgcacactttcatcgggggtgtcaacaaacactccaccagcatc
gggaaggtgtggatcacagtcatctttattttccgagtcatgatcctcgtggtggctgcc
caggaagtgtggggtgacgagcaagaggacttcgtctgcaacacactgcaaccgggatgc
aaaaatgtgtgctatgaccactttttcccggtgtcccacatccggctgtgggccctccag
ctgatcttcgtctccaccccagcgctgctggtggccatgcatgtggcctactacaggcac
gaaaccactcgcaagttcaggcgaggagagaagaggaatgatttcaaagacatagaggac
attaaaaagcagaaggttcggatagaggggtcgctgtggtggacgtacaccagcagcatc
tttttccgaatcatctttgaagcagcctttatgtatgtgttttacttcctttacaatggg
taccacctgccctgggtgttgaaatgtgggattgacccctgccccaaccttgttgactgc
tttatttctaggccaacagagaagaccgtgtttaccatttttatgatttctgcgtctgtg
atttgcatgctgcttaacgtggcagagttgtgctacctgctgctgaaagtgtgttttagg
agatcaaagagagcacagacgcaaaaaaatcaccccaatcatgccctaaaggagagtaag
cagaatgaaatgaatgagctgatttcagatagtggtcaaaatgcaatcacaggtttccca
agctaa

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Disease (9)   
   KEGG DISEASE (3)   
   OMIM (6)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (14)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (49)   
   RefSeq(nuc) (11)   
   GenBank (19)   
   EMBL (19)   
Protein domain (1)   
   Pfam (1)   
All databases (87)   

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