KEGG   Homo sapiens (human): 2707
Entry
2707              CDS       T01001                                 
Symbol
GJB3, CX31, DFNA2, DFNA2B, EKV, EKVP1
Name
(RefSeq) gap junction protein beta 3
  KO
K07622  gap junction beta-3 protein
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
H00710  Erythrokeratodermia variabilis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    2707 (GJB3)
Transporters [BR:hsa02000]
 Other transporters
  Pores ion channels [TC:1]
   2707 (GJB3)
SSDB
Motif
Pfam: Connexin
Other DBs
NCBI-GeneID: 2707
NCBI-ProteinID: NP_001005752
OMIM: 603324
HGNC: 4285
Ensembl: ENSG00000188910
UniProt: O75712 A0A654ICK0
Position
1:34781214..34786364
AA seq 270 aa
MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGC
TNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNA
GKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIAR
PTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCR
CHHKLVEAGEVDPDPGNNKLQASAPNLTPI
NT seq 813 nt   +upstreamnt  +downstreamnt
atggactggaagacactccaggccctactgagcggtgtgaacaagtactccacagcgttc
gggcgcatctggctgtccgtggtgttcgtcttccgggtgctggtatacgtggtggctgca
gagcgcgtgtggggggatgagcagaaggactttgactgcaacaccaagcagcccggctgc
accaacgtctgctacgacaactacttccccatctccaacatccgcctctgggccctgcag
ctcatcttcgtcacatgcccctcgctgctggtcatcctgcacgtggcctaccgtgaggag
cgggagcgccggcaccgccagaaacacggggaccagtgcgccaagctgtacgacaacgca
ggcaagaagcacggaggcctgtggtggacctacctgttcagcctcatcttcaagctcatc
attgagttcctcttcctctacctgctgcacactctctggcatggcttcaatatgccgcgc
ctggtgcagtgtgccaacgtggccccctgccccaacatcgtggactgctacattgcccga
cctaccgagaagaaaatcttcacctacttcatggtgggcgcctccgccgtctgcatcgta
ctcaccatctgtgagctctgctacctcatctgccacagggtcctgcgaggcctgcacaag
gacaagcctcgagggggttgcagcccctcgtcctccgccagccgagcttccacctgccgc
tgccaccacaagctggtggaggctggggaggtggatccagacccaggcaataacaagctg
caggcttcagcacccaacctgacccccatctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
Protein domain (1)   
   Pfam (1)   
All databases (53)   

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