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Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu11503 Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu11503C Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

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_001203.2, 169790809
Length 1509 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA.
Product bone morphogenetic protein receptor type-1B isoform b precursor
Comment

Summary: This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].


Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and published data.

RefSeq NP_001194.1
CDS 275..1783
Misc Feature(1)251..253
Misc Feature(2)362..604
Misc Feature(3)653..718
Misc Feature(4)893..1741
Misc Feature(5)902..1501
Misc Feature(6)order(902..916,926..928,959..961,965..967,1049..1051,
Misc Feature(7)order(902..916,926..928,959..961,965..967,1049..1051,
Misc Feature(8)order(914..916,1130..1132,1136..1138,1268..1270,
Misc Feature(9)order(1319..1339,1391..1402)
Exon (1)1..92
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (2)93..162
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (3)163..257
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (4)258..417
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (5)418..520
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (6)521..623
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (7)624..720
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (8)721..859
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (9)860..1052
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (10)1053..1350
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (11)1351..1526
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (12)1527..1657
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Exon (13)1658..5560
Gene:BMPR1B
Gene Synonym:ALK-6; ALK6; CDw293
Translation MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEED DSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVD GPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLI EQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEAS WFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISD TNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPAS RLTALRVKKTLAKMSESQDIKL
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Position Chain Variation Link
93+dbSNP:
93+a, gdbSNP:143230133
146+a, gdbSNP:148290279
158+c, tdbSNP:75697273
198+dbSNP:
198+g, tdbSNP:376977648
245+c, tdbSNP:117271963
285+a, gdbSNP:150974461
290+a, gdbSNP:143885868
311+a, gdbSNP:111612269
336+c, tdbSNP:190883013
346+c, gdbSNP:148603233
348+c, gdbSNP:145700191
351+a, gdbSNP:377000102
366+a, gdbSNP:200035802
424+dbSNP:
424+c, tdbSNP:147320212
503+g, tdbSNP:200702974
521+dbSNP:
521+c, gdbSNP:369807264
522+a, gdbSNP:140970485
524+a, tdbSNP:192392906
525+c, tdbSNP:200083866
529+c, tdbSNP:144813372
546+g, tdbSNP:376183647
554+a, gdbSNP:200886063
555+a, tdbSNP:139161475
564+a, cdbSNP:151289886
574+c, tdbSNP:140499888
669+dbSNP:
669+g, tdbSNP:150002205
677+g, tdbSNP:145201971
692+a, gdbSNP:138801821
704+c, tdbSNP:55980670
719..720+, gdbSNP:35806331
719+c, tdbSNP:34231464
738+dbSNP:
738+a, cdbSNP:140360809
753+a, gdbSNP:149589961
777+c, gdbSNP:373998952
797+c, tdbSNP:143554488
798+c, gdbSNP:367777041
821+c, tdbSNP:141691706
834+c, gdbSNP:200839585
873+dbSNP:
873+a, tdbSNP:121434417
879+a, gdbSNP:185062260
945+a, gdbSNP:35973133
954+a, tdbSNP:372556235
979+c, tdbSNP:56083112
1000+c, gdbSNP:376819253
1010+c, gdbSNP:369168607
1019+c, gdbSNP:142696562
1020+a, tdbSNP:187868598
1033+a, gdbSNP:200446727
1036+g, tdbSNP:200198618
1043+a, gdbSNP:201034260
1056+dbSNP:
1056+a, tdbSNP:375308110
1110+c, tdbSNP:147336783
1120+c, tdbSNP:371779248
1165+a, cdbSNP:112111860
1166+a, gdbSNP:373000965
1175+a, gdbSNP:199613098
1181+a, cdbSNP:370428276
1183+a, gdbSNP:373401690
1253+a, gdbSNP:141032424
1265+c, gdbSNP:376126706
1318+c, tdbSNP:373436827
1339+a, tdbSNP:139872191
1349+a, gdbSNP:201289177
1373+dbSNP:
1373+c, tdbSNP:148550671
1386+a, gdbSNP:34970181
1411+c, tdbSNP:151056742
1421+c, tdbSNP:200523617
1426+c, tdbSNP:375476260
1513+a, tdbSNP:186299744
1592+dbSNP:
1592+a, gdbSNP:376221874
1614+a, gdbSNP:371436999
1641+a, gdbSNP:140047318
1668+dbSNP:
1668+a, gdbSNP:369609245
1708+a, c, tdbSNP:144080146
1717+a, gdbSNP:375459734
1730+c, tdbSNP:121434418
1731+a, gdbSNP:121434419
1733+a, gdbSNP:369899177
1741+a, gdbSNP:146773802
1750+c, tdbSNP:140430323
1790+a, gdbSNP:377255740
1792+c, gdbSNP:112333283
1796+a, cdbSNP:377403247
1821+a, cdbSNP:371155612
1832+c, tdbSNP:6813320
1856+a, gdbSNP:183489869
1892+a, gdbSNP:374115313
complement(1924)-g, adbSNP:1434536
1924+c, tdbSNP:386531743
1960+c, tdbSNP:112992418
1978..1979+ca, tgdbSNP:386677448
1978+c, tdbSNP:11725366
complement(1979)-t, cdbSNP:1836261
2073..2074+, tdbSNP:11436086
2085+a, tdbSNP:77552018
2087+a, gdbSNP:77149358
2121+c, tdbSNP:79791228
2196+a, gdbSNP:188703962
2247+a, gdbSNP:193193227
2270+g, tdbSNP:183245717
2389..2390+, acdbSNP:146159076
2424+c, tdbSNP:17023107
2580+a, gdbSNP:373221128
2586..2590+, tttttdbSNP:373128499
2586+c, tdbSNP:373214817
2643+c, tdbSNP:188311185
2658..2679+, attcaaaggatcaatattaaatdbSNP:111971137
2673+a, gdbSNP:148298750
2693+a, gdbSNP:141438374
2723+a, gdbSNP:61443337
2772+a, gdbSNP:11097457
complement(2774)-t, adbSNP:150827995
2791+a, gdbSNP:59105855
2796+c, tdbSNP:191551226
complement(2896)-g, adbSNP:139279847
2899+a, tdbSNP:183694616
3144+a, gdbSNP:56738985
3158+a, tdbSNP:370915593
3254..3256+, aatdbSNP:145279069
complement(3342)-t, cdbSNP:2289044
3429+g, tdbSNP:74645391
3490+a, gdbSNP:186753977
3682+a, gdbSNP:372385843
3754+c, gdbSNP:191224787
3755+a, cdbSNP:185854880
3762+c, tdbSNP:370452157
3776+, adbSNP:58613735
3776+a, tdbSNP:200257459
3832+g, tdbSNP:190367204
3848+c, tdbSNP:376211295
3939+a, gdbSNP:386451690
3939+c, tdbSNP:115505973
4115+a, tdbSNP:73839218
complement(4133)-g, adbSNP:1863654
4194+a, tdbSNP:145989039
4194+a, tdbSNP:386493725
4216+a, gdbSNP:139936115
complement(4236)-g, adbSNP:143459680
4279+a, gdbSNP:181930964
complement(4559)-t, cdbSNP:1434535
4805+a, gdbSNP:185008757
4817+a, gdbSNP:189906922
4836+a, gdbSNP:144649830
4842+c, tdbSNP:181152855
4859..4860+, aatdbSNP:377604753
5002+c, tdbSNP:185607229
complement(5004)-g, adbSNP:2162450
5038+c, gdbSNP:2162449
5046+c, tdbSNP:189974357
5060+a, tdbSNP:148400273
5086+a, gdbSNP:12505161
5111+a, gdbSNP:7676885
5272+a, gdbSNP:142488637
5357+g, tdbSNP:372742440
5373+a, gdbSNP:377150654
5401+a, gdbSNP:76804339
5436+c, tdbSNP:180838558
5557+a, cdbSNP:368327814
Gene SymbolBMPR1B
Gene SynonymALK-6; ALK6; CDw293
Chromosome4
Locus Map4q22-q24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001203 Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001203 Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001203 Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001203 Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001203 Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), transcript variant 2, mRNA. On-demand $219.00 7-9
Title Mechanical regulation of cancer cell apoptosis and autophagy: roles of bone morphogenetic protein receptor, Smad1/5, and p38 MAPK .
Author Lien SC, Chang SF, Lee PL, Wei SY, Chang MD, Chang JY and Chiu JJ.
Journal Biochim. Biophys. Acta 1833 (12), 3124-3133 (2013)
Title Primitive CML cell expansion relies on abnormal levels of BMPs provided by the niche and on BMPRIb overexpression .
Author Laperrousaz B, Jeanpierre S, Sagorny K, Voeltzel T, Ramas S, Kaniewski B, Ffrench M, Salesse S, Nicolini FE and Maguer-Satta V.
Journal Blood 122 (23), 3767-3777 (2013)
Title Common genetic variants of the BMP4, BMPR1A, BMPR1B, and ACVR1 genes, left ventricular mass, and other parameters of the heart in newborns .
Author Goracy I, Safranow K, Dawid G, Skonieczna-Zydecka K, Kaczmarczyk M, Goracy J, Loniewska B and Ciechanowicz A.
Journal Genet Test Mol Biomarkers 16 (11), 1309-1316 (2012)
Title A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits .
Author Guo Y, Tomlinson B, Chu T, Fang YJ, Gui H, Tang CS, Yip BH, Cherny SS, Hur YM, Sham PC, Lam TH and Thomas NG.
Journal PLoS ONE 7 (2), E31489 (2012)
Title Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension .
Author Chida A, Shintani M, Nakayama T, Furutani Y, Hayama E, Inai K, Saji T, Nonoyama S and Nakanishi T.
Journal Circ. J. 76 (6), 1501-1508 (2012)
Title Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5 .
Author Nishitoh H, Ichijo H, Kimura M, Matsumoto T, Makishima F, Yamaguchi A, Yamashita H, Enomoto S and Miyazono K.
Journal J. Biol. Chem. 271 (35), 21345-21352 (1996)
Title Analysis of the native murine bone morphogenetic protein serine threonine kinase type I receptor (ALK-3) .
Author Wu X, Robinson CE, Fong HW and Gimble JM.
Journal J. Cell. Physiol. 168 (2), 453-461 (1996)
Title Bone morphogenetic protein type IB receptor is progressively expressed in malignant glioma tumours .
Author Yamada N, Kato M, ten Dijke P, Yamashita H, Sampath TK, Heldin CH, Miyazono K and Funa K.
Journal Br. J. Cancer 73 (5), 624-629 (1996)
Title A mammalian serine/threonine kinase receptor specifically binds BMP-2 and BMP-4 .
Author Yamaji N, Celeste AJ, Thies RS, Song JJ, Bernier SM, Goltzman D, Lyons KM, Nove J, Rosen V and Wozney JM.
Journal Biochem. Biophys. Res. Commun. 205 (3), 1944-1951 (1994)
Title Characterization of type I receptors for transforming growth factor-beta and activin .
Author ten Dijke P, Yamashita H, Ichijo H, Franzen P, Laiho M, Miyazono K and Heldin CH.
Journal Science 264 (5155), 101-104 (1994)

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