KEGG   Homo sapiens (human): 2707Help
Entry
2707              CDS       T01001                                 

Gene name
GJB3, CX31, DFNA2, DFNA2B, EKV, EKVP1
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Connexin DUF3404
Motif
Other DBs
NCBI-GeneID: 2707
NCBI-ProteinID: NP_001005752
OMIM: 603324
HGNC: 4285
Ensembl: ENSG00000188910
Vega: OTTHUMG00000004051
Pharos: O75712(Tbio)
UniProt: O75712
LinkDB All DBs
Position
1p34.3
AA seq 270 aa AA seqDB search
MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGC
TNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNA
GKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIAR
PTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCR
CHHKLVEAGEVDPDPGNNKLQASAPNLTPI
NT seq 813 nt NT seq  +upstreamnt  +downstreamnt
atggactggaagacactccaggccctactgagcggtgtgaacaagtactccacagcgttc
gggcgcatctggctgtccgtggtgttcgtcttccgggtgctggtatacgtggtggctgca
gagcgcgtgtggggggatgagcagaaggactttgactgcaacaccaagcagcccggctgc
accaacgtctgctacgacaactacttccccatctccaacatccgcctctgggccctgcag
ctcatcttcgtcacatgcccctcgctgctggtcatcctgcacgtggcctaccgtgaggag
cgggagcgccggcaccgccagaaacacggggaccagtgcgccaagctgtacgacaacgca
ggcaagaagcacggaggcctgtggtggacctacctgttcagcctcatcttcaagctcatc
attgagttcctcttcctctacctgctgcacactctctggcatggcttcaatatgccgcgc
ctggtgcagtgtgccaacgtggccccctgccccaacatcgtggactgctacattgcccga
cctaccgagaagaaaatcttcacctacttcatggtgggcgcctccgccgtctgcatcgta
ctcaccatctgtgagctctgctacctcatctgccacagggtcctgcgaggcctgcacaag
gacaagcctcgagggggttgcagcccctcgtcctccgccagccgagcttccacctgccgc
tgccaccacaagctggtggaggctggggaggtggatccagacccaggcaataacaagctg
caggcttcagcacccaacctgacccccatctga

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