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Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006783 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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RefSeq Version NM_006783.4, 194306613
Length 2110 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA.
Product gap junction beta-6 protein

Summary: Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008].

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.

RefSeq NP_006774.2
CDS 554..1339
Misc Feature(1)542..544
Misc Feature(2)542..544
Misc Feature(3)557..877
Misc Feature(4)557..877
Misc Feature(5)620..688
Misc Feature(6)779..847
Misc Feature(7)947..1015
Misc Feature(8)989..1192
Misc Feature(9)1130..1198
Exon (1)1..368
Gene Synonym:CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
Exon (2)369..538
Gene Synonym:CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
Exon (3)539..2072
Gene Synonym:CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
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Position Chain Variation Link
complement(121)-t, cdbSNP:142230271
complement(200)-g, adbSNP:138547643
complement(208)-t, cdbSNP:7333727
complement(217)-t, cdbSNP:61058739
complement(219)-t, cdbSNP:142299925
complement(327)-g, adbSNP:55901410
complement(358)-c, adbSNP:181987966
complement(370)-g, cdbSNP:9509104
complement(387)-t, cdbSNP:146367916
complement(396)-g, adbSNP:201084500
complement(449)-t, adbSNP:114639494
complement(496)-g, adbSNP:9509103
complement(504)-g, adbSNP:9509102
complement(559)-g, adbSNP:200415730
complement(567)-t, cdbSNP:104894414
complement(568)-t, cdbSNP:150075979
complement(572)-g, adbSNP:140734037
complement(584)-g, adbSNP:104894415
complement(613)-g, adbSNP:151317854
complement(617)-t, cdbSNP:199552278
complement(661)-g, adbSNP:199700601
complement(663)-t, adbSNP:104894416
complement(706)-g, adbSNP:185764408
complement(707)-t, cdbSNP:143410202
complement(765)-g, adbSNP:200172266
complement(779)-g, adbSNP:180764573
complement(816)-t, cdbSNP:28937872
complement(845)-g, adbSNP:142512804
complement(873)-t, cdbSNP:188399223
complement(892)-t, adbSNP:143766955
complement(897)-c, adbSNP:185491286
complement(911)-t, cdbSNP:193292569
complement(946)-t, cdbSNP:200353369
complement(949)-t, cdbSNP:189971962
complement(958)-t, cdbSNP:145438428
complement(981)-t, cdbSNP:201783640
complement(1029)-t, cdbSNP:35277762
complement(1033)-t, cdbSNP:145762940
complement(1042)-t, cdbSNP:35002004
complement(1047)-t, cdbSNP:139711065
complement(1069)-t, gdbSNP:150583213
complement(1071)-g, adbSNP:200480676
complement(1072..1073)-, gdbSNP:34298814
complement(1121)-t, cdbSNP:144174802
complement(1146)-g, adbSNP:200881320
complement(1148)-t, adbSNP:111033338
complement(1160)-t, cdbSNP:200674715
complement(1172)-t, cdbSNP:146231737
complement(1184)-c, adbSNP:141752846
complement(1219)-t, cdbSNP:138571061
complement(1233)-g, adbSNP:199790650
complement(1268)-t, gdbSNP:200035713
complement(1319)-t, cdbSNP:149845267
complement(1334)-t, cdbSNP:143962007
complement(1364)-g, adbSNP:112845420
complement(1510)-t, cdbSNP:192122304
complement(1514)-c, adbSNP:186874138
complement(1640)-g, cdbSNP:112723181
complement(1676)-c, adbSNP:7333214
complement(1762)-g, adbSNP:200952332
complement(1827)-t, cdbSNP:141993627
complement(1952)-c, adbSNP:41292217
complement(1994)-g, adbSNP:182597970
complement(2053)-g, adbSNP:76179836
Gene SymbolGJB6
Gene SynonymCX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
Locus Map13q12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001110219 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 1, mRNA. On-demand $449.00 14
NM_001110220 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 2, mRNA. On-demand $449.00 14
NM_001110221 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA. On-demand $449.00 14
NM_006783 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. On-demand $449.00 14
Title Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss .
Author Oh,S.K., Choi,S.Y., Yu,S.H., Lee,K.Y., Hong,J.H., Hur,S.W., Kim,S.J., Jeon,C.J. and Kim,U.K.
Journal Biochim. Biophys. Acta 1832 (1), 285-291 (2013)
Title Etiology of unilateral hearing loss in a national hereditary deafness repository .
Author Dodson,K.M., Georgolios,A., Barr,N., Nguyen,B., Sismanis,A., Arnos,K.S., Norris,V.W., Chapman,D., Nance,W.E. and Pandya,A.
Journal Am J Otolaryngol 33 (5), 590-594 (2012)
Title Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss .
Author Minarik,G., Tretinarova,D., Szemes,T. and Kadasi,L.
Journal Int. J. Pediatr. Otorhinolaryngol. 76 (3), 400-403 (2012)
Title Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment .
Author Yuan,Y., Zhang,X., Huang,S., Zuo,L., Zhang,G., Song,Y., Wang,G., Wang,H., Huang,D., Han,D. and Dai,P.
Journal PLoS ONE 7 (2), E30720 (2012)
Title Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics .
Author Zonta,F., Polles,G., Zanotti,G. and Mammano,F.
Journal J. Biomol. Struct. Dyn. 29 (5), 985-998 (2012)
Title Clonally-related immunoglobulin VH domains and nonrandom use of DH gene segments in rheumatoid arthritis synovium .
Author Clausen,B.E., Bridges,S.L. Jr., Lavelle,J.C., Fowler,P.G., Gay,S., Koopman,W.J. and Schroeder,H.W. Jr.
Journal Mol. Med. 4 (4), 240-257 (1998)
Title The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region .
Author Radhakrishna,U., Blouin,J.L., Mehenni,H., Mehta,T.Y., Sheth,F.J., Sheth,J.J., Solanki,J.V. and Antonarakis,S.E.
Journal Am. J. Med. Genet. 71 (1), 80-86 (1997)
Title Phage display cloning and characterization of an immunogenetic marker (perinuclear anti-neutrophil cytoplasmic antibody) in ulcerative colitis .
Author Eggena,M., Targan,S.R., Iwanczyk,L., Vidrich,A., Gordon,L.K. and Braun,J.
Journal J. Immunol. 156 (10), 4005-4011 (1996)
Title The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q .
Author Kibar,Z., Der Kaloustian,V.M., Brais,B., Hani,V., Fraser,F.C. and Rouleau,G.A.
Journal Hum. Mol. Genet. 5 (4), 543-547 (1996)
Title Characterization of the two unique human anti-flavin monoclonal immunoglobulins .
Author Stoppini,M., Bellotti,V., Negri,A., Merlini,G., Garver,F. and Ferri,G.
Journal Eur. J. Biochem. 228 (3), 886-893 (1995)

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