Homo sapiens noggin (NOG), mRNA.
| RefSeq Version | NM_005450.4, 189339247 |
| Length | 1892 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens noggin (NOG), mRNA. |
| Product | noggin precursor |
| Comment | Summary: The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. |
| RefSeq | NP_005441.1 |
| CDS | 526..1224 | Exon (1) | 1..1892 | Exon (2) | 1..1892 |
| Translation | MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKD
LNETLLRSLLGGHYDPGFMATSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEI
KGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYAWNDLGSRFWPRYVKVGSCFS
KRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC
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| Position | Chain | Variation | Link |
| 141 | + | a, c | dbSNP:117249328 |
| 544 | + | , c | dbSNP:34711886 |
| 628 | + | c, g, t | dbSNP:28937580 |
| 629 | + | c, g | dbSNP:104894611 |
| 703 | + | a, g | dbSNP:117165670 |
| 853 | + | c, t | dbSNP:104894614 |
| 911 | + | a, t | dbSNP:104894613 |
| 973 | + | g, t | dbSNP:118090182 |
| 1024 | + | c, g | dbSNP:121908949 |
| 1076 | + | a, g | dbSNP:104894612 |
| 1086 | + | c, t | dbSNP:116863344 |
| 1090 | + | g, t | dbSNP:104894609 |
| 1107 | + | a, g | dbSNP:76347008 |
| 1136 | + | g, t | dbSNP:104894610 |
| 1140 | + | c, g | dbSNP:104894615 |
| 1174 | + | g, t | dbSNP:104894603 |
| 1189 | + | g, t | dbSNP:121908948 |
| 1190 | + | a, g | dbSNP:104894602 |
| 1193 | + | c, t | dbSNP:104894608 |
| complement(1304) | - | t, g | dbSNP:1442829 |
| complement(1334) | - | g, a | dbSNP:1236187 |
| 1344 | + | , tttttt | dbSNP:71671792 |
| 1345..1346 | + | , ttttt | dbSNP:71888945 |
| 1345 | + | , tt, tttttt | dbSNP:67555616 |
| 1359 | + | , tt | dbSNP:71139919 |
| 1377 | + | a, g | dbSNP:74256715 |
| complement(1527) | - | t, g | dbSNP:1348322 |
| 1791 | + | c, g | dbSNP:116716909 |
| Title | A large-scale candidate gene association study of age at menarche and age at natural menopause . |
| Author | He,C., Kraft,P., Chasman,D.I., Buring,J.E., Chen,C., Hankinson,S.E., Pare,G., Chanock,S., Ridker,P.M. and Hunter,D.J. |
| Journal | Hum. Genet. 128 (5), 515-527 (2010) |
| Title | Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation . |
| Author | Rudnik-Schoneborn,S., Takahashi,T., Busse,S., Schmidt,T., Senderek,J., Eggermann,T. and Zerres,K. |
| Journal | Am. J. Med. Genet. A 152A (6), 1540-1544 (2010) |
| Title | Identification of a key residue mediating bone morphogenetic protein (BMP)-6 resistance to noggin inhibition allows for engineered BMPs with superior agonist activity . |
| Author | Song,K., Krause,C., Shi,S., Patterson,M., Suto,R., Grgurevic,L., Vukicevic,S., van Dinther,M., Falb,D., Ten Dijke,P. and Alaoui-Ismaili,M.H. |
| Journal | J. Biol. Chem. 285 (16), 12169-12180 (2010) |
| Title | Polymorphisms of the noggin gene and mandibular micrognathia: a first approximation . |
| Author | Gutierrez,S.J., Gomez,M., Rey,J.A., Ochoa,M., Gutierrez,S.M. and Prieto,J.C. |
| Journal | Acta Odontol Latinoam 23 (1), 13-19 (2010) |
| Title | The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature . |
| Author | Zhao,J., Li,M., Bradfield,J.P., Zhang,H., Mentch,F.D., Wang,K., Sleiman,P.M., Kim,C.E., Glessner,J.T., Hou,C., Keating,B.J., Thomas,K.A., Garris,M.L., Deliard,S., Frackelton,E.C., Otieno,F.G., Chiavacci,R.M., Berkowitz,R.I., Hakonarson,H. and Grant,S.F. |
| Journal | BMC Med. Genet. 11, 96 (2010) |
| Title | Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite . |
| Author | McMahon,J.A., Takada,S., Zimmerman,L.B., Fan,C.M., Harland,R.M. and McMahon,A.P. |
| Journal | Genes Dev. 12 (10), 1438-1452 (1998) |
| Title | The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4 . |
| Author | Zimmerman,L.B., De Jesus-Escobar,J.M. and Harland,R.M. |
| Journal | Cell 86 (4), 599-606 (1996) |
| Title | Fibroblast growth factor is a direct neural inducer, which combined with noggin generates anterior-posterior neural pattern . |
| Author | Lamb,T.M. and Harland,R.M. |
| Journal | Development 121 (11), 3627-3636 (1995) |
| Title | Identification of mammalian noggin and its expression in the adult nervous system . |
| Author | Valenzuela,D.M., Economides,A.N., Rojas,E., Lamb,T.M., Nunez,L., Jones,P., Lp,N.Y., Espinosa,R. III, Brannan,C.I., Gilbert,D.J. et al. |
| Journal | J. Neurosci. 15 (9), 6077-6084 (1995) |
| Title | Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22 . |
| Author | Polymeropoulos,M.H., Poush,J., Rubenstein,J.R. and Francomano,C.A. |
| Journal | Genomics 27 (2), 225-229 (1995) |
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