LOCUS NM_130850 1748 bp mRNA linear PRI 18-DEC-2007
DEFINITION Homo sapiens bone morphogenetic protein 4 (BMP4), transcript
variant 2, mRNA.
ACCESSION NM_130850
VERSION NM_130850.2 GI:157276594
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1748)
AUTHORS Goldstein,M., Meller,I. and Orr-Urtreger,A.
TITLE FGFR1 over-expression in primary rhabdomyosarcoma tumors is
associated with hypomethylation of a 5' CpG island and abnormal
expression of the AKT1, NOG, and BMP4 genes
JOURNAL Genes Chromosomes Cancer 46 (11), 1028-1038 (2007)
PUBMED 17696196
REMARK GeneRIF: Expression analysis of additional genes, AKT1, NOG and its
antagonist BMP4, which interact downstream to FGFR1, demonstrated
expression differences between primary rhabdomyosarcoma tumors and
normal skeletal muscles
REFERENCE 2 (bases 1 to 1748)
AUTHORS Deng,H., Ravikumar,T.S. and Yang,W.L.
TITLE Bone morphogenetic protein-4 inhibits heat-induced apoptosis by
modulating MAPK pathways in human colon cancer HCT116 cells
JOURNAL Cancer Lett. 256 (2), 207-217 (2007)
PUBMED 17640799
REMARK GeneRIF: BMP-4 can protect colon cancer cells from heat-induced
apoptosis through enhancing the activation of ERK as well as
inhibiting the activation of JNK.
REFERENCE 3 (bases 1 to 1748)
AUTHORS Milet,J., Dehais,V., Bourgain,C., Jouanolle,A.M., Mosser,A.,
Perrin,M., Morcet,J., Brissot,P., David,V., Deugnier,Y. and
Mosser,J.
TITLE Common variants in the BMP2, BMP4, and HJV genes of the hepcidin
regulation pathway modulate HFE hemochromatosis penetrance
JOURNAL Am. J. Hum. Genet. 81 (4), 799-807 (2007)
PUBMED 17847004
REMARK GeneRIF: interactive effect on serum ferritin level of rs235756 in
BMP2 and a SNP in HJV, with a small additive effect of a SNP in
BMP4
REFERENCE 4 (bases 1 to 1748)
AUTHORS Chang,K., Weiss,D., Suo,J., Vega,J.D., Giddens,D., Taylor,W.R. and
Jo,H.
TITLE Bone morphogenic protein antagonists are coexpressed with bone
morphogenic protein 4 in endothelial cells exposed to unstable flow
in vitro in mouse aortas and in human coronary arteries: role of
bone morphogenic protein antagonists in inflammation and
atherosclerosis
JOURNAL Circulation 116 (11), 1258-1266 (2007)
PUBMED 17785623
REMARK GeneRIF: Endothelial cells coexpress BMP4 antagonists along with
BMP4 to minimize the inflammatory response to oscillatory shear
stress.
REFERENCE 5 (bases 1 to 1748)
AUTHORS Milano,F., van Baal,J.W., Buttar,N.S., Rygiel,A.M., de Kort,F.,
DeMars,C.J., Rosmolen,W.D., Bergman,J.J., VAn Marle,J., Wang,K.K.,
Peppelenbosch,M.P. and Krishnadath,K.K.
TITLE Bone morphogenetic protein 4 expressed in esophagitis induces a
columnar phenotype in esophageal squamous cells
JOURNAL Gastroenterology 132 (7), 2412-2421 (2007)
PUBMED 17570215
REMARK GeneRIF: BMP pathway could play a role in the transformation of
normal esophageal squamous cells into columnar cells.
REFERENCE 6 (bases 1 to 1748)
AUTHORS Nohno,T., Ishikawa,T., Saito,T., Hosokawa,K., Noji,S., Wolsing,D.H.
and Rosenbaum,J.S.
TITLE Identification of a human type II receptor for bone morphogenetic
protein-4 that forms differential heteromeric complexes with bone
morphogenetic protein type I receptors
JOURNAL J. Biol. Chem. 270 (38), 22522-22526 (1995)
PUBMED 7673243
REFERENCE 7 (bases 1 to 1748)
AUTHORS Rosenzweig,B.L., Imamura,T., Okadome,T., Cox,G.N., Yamashita,H.,
ten Dijke,P., Heldin,C.H. and Miyazono,K.
TITLE Cloning and characterization of a human type II receptor for bone
morphogenetic proteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (17), 7632-7636 (1995)
PUBMED 7644468
REFERENCE 8 (bases 1 to 1748)
AUTHORS van den Wijngaard,A., Weghuis,D.O., Boersma,C.J., van Zoelen,E.J.,
Geurts van Kessel,A. and Olijve,W.
TITLE Fine mapping of the human bone morphogenetic protein-4 gene (BMP4)
to chromosome 14q22-q23 by in situ hybridization
JOURNAL Genomics 27 (3), 559-560 (1995)
PUBMED 7558046
REFERENCE 9 (bases 1 to 1748)
AUTHORS Oida,S., Iimura,T., Maruoka,Y., Takeda,K. and Sasaki,S.
TITLE Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a
human placental cDNA library
JOURNAL DNA Seq. 5 (5), 273-275 (1995)
PUBMED 7579580
REFERENCE 10 (bases 1 to 1748)
AUTHORS Wozney,J.M., Rosen,V., Celeste,A.J., Mitsock,L.M., Whitters,M.J.,
Kriz,R.W., Hewick,R.M. and Wang,E.A.
TITLE Novel regulators of bone formation: molecular clones and activities
JOURNAL Science 242 (4885), 1528-1534 (1988)
PUBMED 3201241
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BQ083000.1, BC020546.2,
BX161385.1 and BU683974.1.
On Sep 14, 2007 this sequence version replaced gi:19528649.
Summary: The protein encoded by this gene is a member of the bone
morphogenetic protein family which is part of the transforming
growth factor-beta superfamily. The superfamily includes large
families of growth and differentiation factors. Bone morphogenetic
proteins were originally identified by an ability of demineralized
bone extract to induce endochondral osteogenesis in vivo in an
extraskeletal site. This particular family member plays an
important role in the onset of endochondral bone formation in
humans, and a reduction in expression has been associated with a
variety of bone diseases, including the heritable disorder
Fibrodysplasia Ossificans Progressiva. Alternative splicing in the
5' untranslated region of this gene has been described and three
variants are described, all encoding an identical protein.
Transcript Variant: This variant (2) utilizes exons 1, 3, 4 and 5
but uses an alternate splice acceptor site on exon 1, resulting in
a shorter transcript compared to variant 1. Variants 1, 2 and 3
encode the same protein.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-25 BQ083000.1 27-51
26-664 BC020546.2 17-655
665-1728 BX161385.1 642-1705
1729-1748 BU683974.1 1-20 c
FEATURES Location/Qualifiers
source 1..1748
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q22-q23"
gene 1..1748
/gene="BMP4"
/note="bone morphogenetic protein 4; synonyms: ZYME,
BMP2B, BMP2B1"
/db_xref="GeneID:652"
/db_xref="HGNC:1071"
/db_xref="HPRD:HPRD_00207"
/db_xref="MIM:112262"
exon 1..78
/gene="BMP4"
/inference="alignment:Splign"
/number=1a
exon 79..203
/gene="BMP4"
/inference="alignment:Splign"
/number=3
STS 127..236
/gene="BMP4"
/standard_name="MARC_5761-5762:996690803:2"
/db_xref="UniSTS:269563"
exon 204..580
/gene="BMP4"
/inference="alignment:Splign"
/number=4
CDS 211..1437
/gene="BMP4"
/GO_component="extracellular space"
/GO_function="cytokine activity [PMID 14749725]; growth
factor activity; signal transducer activity [PMID
9804553]"
/GO_process="cartilage development; cell differentiation;
growth; negative regulation of myoblast differentiation
[PMID 14749725]; negative regulation of striated muscle
development [PMID 14749725]; ossification; positive
regulation of bone mineralization [PMID 14749725];
positive regulation of osteoblast differentiation [PMID
14749725]; positive regulation of protein amino acid
phosphorylation [PMID 14749725]; ureteric bud development
[PMID 12141440]"
/note="bone morphogenetic protein 2B"
/codon_start=1
/product="bone morphogenetic protein 4 preproprotein"
/protein_id="NP_570911.2"
/db_xref="GI:157276595"
/db_xref="CCDS:CCDS9715.1"
/db_xref="GeneID:652"
/db_xref="HGNC:1071"
/db_xref="HPRD:HPRD_00207"
/db_xref="MIM:112262"
/translation="MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGG
RRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIHST
GLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRL
FREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLLDTRLVHHNVTRWETFDVS
PAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFG
HDGRGHALTRRRRAKRSPKHHSQRARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQA
FYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKV
VLKNYQEMVVEGCGCR"
exon 581..1733
/gene="BMP4"
/inference="alignment:Splign"
/number=5
STS 748..1628
/gene="BMP4"
/standard_name="BMP4_296"
/db_xref="UniSTS:277036"
STS 1354..1522
/gene="BMP4"
/standard_name="RH66828"
/db_xref="UniSTS:66257"
STS 1407..1548
/gene="BMP4"
/standard_name="RH47295"
/db_xref="UniSTS:14466"
STS 1440..1545
/gene="BMP4"
/standard_name="G15892"
/db_xref="UniSTS:65077"
polyA_signal 1704..1709
/gene="BMP4"
polyA_site 1733
/gene="BMP4"
ORIGIN
1 aagaggagga aggaagatgc gagaaggcag aggaggaggg agggagggaa ggagcgcgga
61 gcccggcccg gaagctagga gccattccgt agtgccatcc cgagcaacgc actgctgcag
121 cttccctgag cctttccagc aagtttgttc aagattggct gtcaagaatc atggactgtt
181 attatatgcc ttgttttctg tcaagacacc atgattcctg gtaaccgaat gctgatggtc
241 gttttattat gccaagtcct gctaggaggc gcgagccatg ctagtttgat acctgagacg
301 gggaagaaaa aagtcgccga gattcagggc cacgcgggag gacgccgctc agggcagagc
361 catgagctcc tgcgggactt cgaggcgaca cttctgcaga tgtttgggct gcgccgccgc
421 ccgcagccta gcaagagtgc cgtcattccg gactacatgc gggatcttta ccggcttcag
481 tctggggagg aggaggaaga gcagatccac agcactggtc ttgagtatcc tgagcgcccg
541 gccagccggg ccaacaccgt gaggagcttc caccacgaag aacatctgga gaacatccca
601 gggaccagtg aaaactctgc ttttcgtttc ctctttaacc tcagcagcat ccctgagaac
661 gaggtgatct cctctgcaga gcttcggctc ttccgggagc aggtggacca gggccctgat
721 tgggaaaggg gcttccaccg tataaacatt tatgaggtta tgaagccccc agcagaagtg
781 gtgcctgggc acctcatcac acgactactg gacacgagac tggtccacca caatgtgaca
841 cggtgggaaa cttttgatgt gagccctgcg gtccttcgct ggacccggga gaagcagcca
901 aactatgggc tagccattga ggtgactcac ctccatcaga ctcggaccca ccagggccag
961 catgtcagga ttagccgatc gttacctcaa gggagtggga attgggccca gctccggccc
1021 ctcctggtca cctttggcca tgatggccgg ggccatgcct tgacccgacg ccggagggcc
1081 aagcgtagcc ctaagcatca ctcacagcgg gccaggaaga agaataagaa ctgccggcgc
1141 cactcgctct atgtggactt cagcgatgtg ggctggaatg actggattgt ggccccacca
1201 ggctaccagg ccttctactg ccatggggac tgcccctttc cactggctga ccacctcaac
1261 tcaaccaacc atgccattgt gcagaccctg gtcaattctg tcaattccag tatccccaaa
1321 gcctgttgtg tgcccactga actgagtgcc atctccatgc tgtacctgga tgagtatgat
1381 aaggtggtac tgaaaaatta tcaggagatg gtagtagagg gatgtgggtg ccgctgagat
1441 caggcagtcc ttgaggatag acagatatac acaccacaca cacacaccac atacaccaca
1501 cacacacgtt cccatccact cacccacaca ctacacagac tgcttcctta tagctggact
1561 tttatttaaa aaaaaaaaaa aaaaaggaaa aaatccctaa acattcacct tgaccttatt
1621 tatgacttta cgtgcaaatg ttttgaccat attgatcata tattttgaca aaatatattt
1681 ataactacgt attaaaagaa aaaaataaaa tgagtcatta ttttaaaggt aaaaaaaaaa
1741 aaaaaaaa
LOCUS...
DEFINITION...
ACCESION...
...
FEATURES...
...
CDS...
....
"BMP4"(211..1437): atgattcctggtaaccgaatgctgatggtcgttttattatgccaagtcctgctaggaggcgcgagccatgctagttt
gatacctgagacggggaagaaaaaagtcgccgagattcagggccacgcgggaggacgccgctcagggcagagccatgagctcctgcgggacttcga
ggcgacacttctgcagatgtttgggctgcgccgccgcccgcagcctagcaagagtgccgtcattccggactacatgcgggatctttaccggcttca
gtctggggaggaggaggaagagcagatccacagcactggtcttgagtatcctgagcgcccggccagccgggccaacaccgtgaggagcttccacca
cgaagaacatctggagaacatcccagggaccagtgaaaactctgcttttcgtttcctctttaacctcagcagcatccctgagaacgaggtgatctc
ctctgcagagcttcggctcttccgggagcaggtggaccagggccctgattgggaaaggggcttccaccgtataaacatttatgaggttatgaagcc
cccagcagaagtggtgcctgggcacctcatcacacgactactggacacgagactggtccaccacaatgtgacacggtgggaaacttttgatgtgag
ccctgcggtccttcgctggacccgggagaagcagccaaactatgggctagccattgaggtgactcacctccatcagactcggacccaccagggcca
gcatgtcaggattagccgatcgttacctcaagggagtgggaattgggcccagctccggcccctcctggtcacctttggccatgatggccggggcca
tgccttgacccgacgccggagggccaagcgtagccctaagcatcactcacagcgggccaggaagaagaataagaactgccggcgccactcgctcta
tgtggacttcagcgatgtgggctggaatgactggattgtggccccaccaggctaccaggccttctactgccatggggactgcccctttccactggc
tgaccacctcaactcaaccaaccatgccattgtgcagaccctggtcaattctgtcaattccagtatccccaaagcctgttgtgtgcccactgaact
gagtgccatctccatgctgtacctggatgagtatgataaggtggtactgaaaaattatcaggagatggtagtagagggatgtgggtgccgctg
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