Homo sapiens (human): 2707 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Connexin Motif Other DBs NCBI-GeneID:  2707 NCBI-ProteinID:  NP_001005752 OMIM:  603324 HGNC:  4285 Ensembl:  ENSG00000188910 UniProt:  O75712 A0A654ICK0 LinkDB All DBs Position 1:34781214..34786364 Genome browser 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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