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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26102 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu26102C Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. Customized vector On-demand $209.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_006783.4, 194306613
Length 786 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA.
Product gap junction beta-6 protein
Comment

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:GJB6
Gene Synonym:CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
Exon (2)369..538
Gene:GJB6
Gene Synonym:CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
Exon (3)539..2072
Gene:GJB6
Gene Synonym:CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
Translation MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGC KNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIED IKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDC FISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK QNEMNELISDSGQNAITGFPS
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Position Chain Variation Link
121+dbSNP:
121+c, tdbSNP: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)-dbSNP:
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(546)-g, adbSNP:374920634
complement(551)-t, cdbSNP:372835743
complement(559)-g, adbSNP:200415730
567+c, tdbSNP:104894414
complement(568)-t, c, adbSNP:150075979
complement(572)-g, adbSNP:140734037
complement(583)-g, adbSNP:377181573
584+a, gdbSNP:104894415
complement(595)-g, adbSNP:372474784
613..614+cg, tdbSNP:397517206
complement(617)-t, cdbSNP:199552278
complement(661)-g, adbSNP:199700601
663+a, tdbSNP:104894416
complement(682)-t, cdbSNP:368228976
complement(700)-t, cdbSNP:374808795
complement(706)-g, adbSNP:185764408
complement(707)-t, cdbSNP:143410202
complement(730)-t, cdbSNP:371123633
complement(765)-g, adbSNP:200172266
complement(779)-g, adbSNP:180764573
complement(796)-t, cdbSNP:267603772
814..815+, adbSNP:398124236
816+c, tdbSNP:28937872
complement(818)-g, adbSNP:267603771
complement(844)-g, adbSNP:370775704
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(1067)-t, cdbSNP:377061702
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(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(1240)-t, gdbSNP:372607790
1242..1243+, adbSNP:398124237
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(1564..1565)-, adbSNP:368264636
complement(1631)-g, adbSNP:376079185
complement(1640)-g, cdbSNP:112723181
complement(1675)-g, adbSNP:374503686
complement(1676)-c, adbSNP:7333214
complement(1728)-g, adbSNP:370208447
complement(1762)-g, adbSNP:200952332
complement(1827)-t, cdbSNP:141993627
complement(1952)-c, adbSNP:41292217
complement(1957)-t, cdbSNP:376902849
complement(1994)-g, adbSNP:182597970
complement(1995)-t, cdbSNP:367689408
complement(2003)-t, cdbSNP:373737271
complement(2053)-g, adbSNP:76179836
Gene SymbolGJB6
Gene SynonymCX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2
Chromosome13
Locus Map13q12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006783 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. On-demand $159.00 7-9
NM_006783 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. On-demand $159.00 7-9
NM_006783 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. On-demand $159.00 7-9
NM_006783 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. On-demand $159.00 7-9
Title Expression of gap junction proteins connexins 26, 30, and 43 in Dupuytren's disease .
Author Holzer LA, Cor A and Holzer G.
Journal Acta Orthop 85 (1), 97-101 (2014)
Title Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia .
Author Sugiura K, Teranishi M, Matsumoto Y and Akiyama M.
Journal JAMA Dermatol 149 (11), 1350-1351 (2013)
Title Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil .
Author Manzoli GN, Abe-Sandes K, Bittles AH, da Silva DS, Fernandes Lda C, Paulon RM, de Castro IC, Padovani CM and Acosta AX.
Journal Int. J. Pediatr. Otorhinolaryngol. 77 (7), 1077-1082 (2013)
Title Phage display cloning and characterization of an immunogenetic marker (perinuclear anti-neutrophil cytoplasmic antibody) in ulcerative colitis .
Author Eggena M, Targan SR, Iwanczyk L, Vidrich A, Gordon LK 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 VM, Brais B, Hani V, Fraser FC and Rouleau GA.
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)
Title Nonsyndromic Hearing Loss and Deafness, DFNA3 .
Author Smith,R.J.H., Sheffield,A.M. and Van Camp,G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Deafness and Hereditary Hearing Loss Overview .
Author Smith,R.J.H., Shearer,A.E., Hildebrand,M.S. and Van Camp,G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Nonsyndromic Hearing Loss and Deafness, DFNB1 .
Author Smith,R.J.H. and Van Camp,G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Hidrotic Ectodermal Dysplasia 2 .
Author Der Kaloustian,V.M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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