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Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25754 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu25754C Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA. Customized vector On-demand $269.00 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_032405.1, 14602456
Length 1035 bp
Update Date 24-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA.
Product transmembrane protease serine 3 isoform 3

Summary: This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012].

Transcript Variant: This variant (D) lacks several 3' exons, but includes an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant A. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.

RefSeq NP_115781.1
CDS 202..1236
Misc Feature(1)1..298
Misc Feature(2)1..298
Misc Feature(3)421..522
Misc Feature(4)421..522
Misc Feature(5)order(430..432,457..459,490..495)
Misc Feature(6)order(469..471,478..480,490..492,508..513)
Misc Feature(7)499..513
Misc Feature(8)535..834
Misc Feature(9)847..>1173
Misc Feature(10)850..>1212
Misc Feature(11)850..852
Misc Feature(12)order(970..972,1111..1113)
Misc Feature(13)299..406
Misc Feature(14)299..406
Misc Feature(15)1153..1154
Misc Feature(16)1154..1359
Exon (1)151..295
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (2)296..406
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (3)407..523
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (4)524..647
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (5)648..773
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (6)774..817
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (7)818..983
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
Exon (8)984..1342
Gene Synonym:DFNB10; DFNB8; ECHOS1; TADG12
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Position Chain Variation Link
complement(4)-t, cdbSNP:56100074
complement(14)-g, adbSNP:377532101
complement(20)-t, cdbSNP:147296608
complement(30)-t, cdbSNP:191054653
complement(33)-g, adbSNP:56347158
complement(55)-t, cdbSNP:200277359
complement(71)-g, cdbSNP:56369547
complement(103)-t, cdbSNP:375438526
complement(115)-t, cdbSNP:371722059
complement(151)-t, cdbSNP:371778905
complement(166)-g, cdbSNP:186244930
complement(168)-t, cdbSNP:73372256
complement(173)-g, adbSNP:376404558
complement(180)-g, adbSNP:373324024
complement(218)-g, adbSNP:139865555
complement(219)-t, c, adbSNP:200199344
complement(222)-t, adbSNP:143981919
complement(226)-g, cdbSNP:149481350
complement(233)-t, gdbSNP:372629505
complement(234)-g, adbSNP:138052370
complement(240)-g, cdbSNP:150765531
complement(248)-t, cdbSNP:369418733
complement(252)-t, cdbSNP:182209675
complement(253)-t, gdbSNP:372359927
complement(284)-t, gdbSNP:137882698
complement(302)-t, adbSNP:142917173
complement(324)-c, adbSNP:201147366
complement(336)-t, cdbSNP:140388341
complement(357)-g, adbSNP:367999701
complement(358)-t, cdbSNP:928302
complement(362)-g, adbSNP:142317371
complement(394)-t, cdbSNP:374679649
complement(413)-g, adbSNP:185332310
complement(414)-g, adbSNP:200937562
complement(432)-g, adbSNP:139934512
complement(439)-t, gdbSNP:143733205
complement(440)-t, c, adbSNP:146159479
458+a, tdbSNP:397517372
complement(459)-g, adbSNP:192083827
complement(469)-t, cdbSNP:45598239
complement(472)-g, adbSNP:199903164
473+a, gdbSNP:397517373
complement(480)-g, adbSNP:145824109
complement(481)-t, cdbSNP:143762350
complement(483)-t, cdbSNP:143130957
complement(488)-g, adbSNP:201811831
complement(492)-g, adbSNP:375429122
499+c, gdbSNP:397517374
complement(501)-g, adbSNP:146621712
509+a, gdbSNP:387906915
complement(511)-t, cdbSNP:373058706
complement(517)-g, adbSNP:139805921
complement(518)-t, cdbSNP:200028529
complement(526)-g, adbSNP:201632198
complement(527)-t, cdbSNP:139484231
534+c, tdbSNP:397517375
complement(546)-g, adbSNP:142577467
complement(547)-t, cdbSNP:200090033
complement(548)-g, adbSNP:201007237
complement(573)-t, c, adbSNP:141682398
complement(592)-t, cdbSNP:144556872
complement(612)-g, adbSNP:142784113
complement(613)-t, cdbSNP:140614903
complement(614)-t, gdbSNP:147231991
complement(633)-t, cdbSNP:61731564
complement(638)-t, cdbSNP:372586986
complement(650)-t, cdbSNP:368884558
complement(652)-g, cdbSNP:187406481
complement(653)-t, adbSNP:181757077
complement(654)-t, cdbSNP:2839501
complement(667)-g, adbSNP:189002288
complement(681)-g, cdbSNP:376399439
complement(695..696)-, gdbSNP:34332832
complement(698)-c, adbSNP:150397427
complement(717)-g, adbSNP:141476064
complement(741)-t, cdbSNP:201438268
complement(742)-t, cdbSNP:148313943
780..781+, adbSNP:397517376
complement(790)-g, cdbSNP:145109634
complement(794)-t, cdbSNP:200153943
complement(808)-t, gdbSNP:141372828
complement(841)-t, cdbSNP:146604336
complement(847)-g, adbSNP:145913750
complement(852)-g, adbSNP:376455414
complement(867)-t, cdbSNP:373261804
complement(870)-g, adbSNP:369273878
complement(882)-t, cdbSNP:201260442
complement(906)-g, cdbSNP:202037999
complement(916)-g, adbSNP:149001183
complement(928)-t, cdbSNP:372526764
932+g, tdbSNP:397517377
complement(945)-t, cdbSNP:369903582
complement(946)-g, adbSNP:376797288
954+c, gdbSNP:137852999
complement(955)-t, cdbSNP:371345947
complement(958)-t, cdbSNP:2839500
complement(958)-t, cdbSNP:386574957
984+c, tdbSNP:397517378
complement(987)-g, cdbSNP:149869600
complement(990)-g, adbSNP:147181936
complement(1002)-t, cdbSNP:147785678
complement(1011)-t, gdbSNP:144303402
complement(1012)-t, gdbSNP:373744270
complement(1032)-g, cdbSNP:140552212
complement(1052)-g, adbSNP:371475934
complement(1057)-t, adbSNP:147189374
complement(1117)-t, cdbSNP:181949335
complement(1134)-g, adbSNP:145235893
complement(1170)-t, cdbSNP:115489719
complement(1227)-t, cdbSNP:374268461
Gene SymbolTMPRSS3
Gene SynonymDFNB10; DFNB8; ECHOS1; TADG12
Locus Map21q22.3
Title Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss .
Author Lee J, Baek JI, Choi JY, Kim UK, Lee SH and Lee KY.
Journal Gene 532 (2), 276-280 (2013)
Title A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation .
Author Guerrero K, Wang Z, Bachvarova M, Gregoire J, Renaud MC, Plante M and Bachvarov D.
Journal Gynecol. Oncol. 125 (3), 720-726 (2012)
Title Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss .
Author Charif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G and Barakat A.
Journal Biochem. Biophys. Res. Commun. 419 (4), 643-647 (2012)
Title Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations .
Author Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H and Kunst HP.
Journal J. Assoc. Res. Otolaryngol. 12 (6), 753-766 (2011)
Title Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan .
Author Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ and Wilcox ER.
Journal BMC Med. Genet. 5, 24 (2004)
Title Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness .
Author Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B and Antonarakis SE.
Journal Nat. Genet. 27 (1), 59-63 (2001)
Title Ovarian tumor cells express a novel multi-domain cell surface serine protease .
Author Underwood LJ, Shigemasa K, Tanimoto H, Beard JB, Schneider EN, Wang Y, Parmley TH and O'Brien TJ.
Journal Biochim. Biophys. Acta 1502 (3), 337-350 (2000)
Title A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer .
Author Wallrapp C, Hahnel S, Muller-Pillasch F, Burghardt B, Iwamura T, Ruthenburger M, Lerch MM, Adler G and Gress TM.
Journal Cancer Res. 60 (10), 2602-2606 (2000)
Title Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 .
Author Bonne-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT and Farrer LA.
Journal Am. J. Hum. Genet. 58 (6), 1254-1259 (1996)
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)

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