| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 4093 |
Name | SMAD9 |
Synonym | MADH6|MADH9|SMAD8|SMAD8A|SMAD8B;SMAD family member 9;SMAD9;SMAD family member 9 |
Definition | MAD homolog 9|Mothers against decapentaplegic, drosophila, homolog of, 9|SMAD, mothers against DPP homolog 9|mothers against decapentaplegic homolog 9 |
Position | 13q12-q14 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. |
PH | Dysregulated bone morphogenetic protein signaling in monocrotaline-induced pulmonary arterial hypertension. |
PH | Defective pulmonary vascular remodeling in Smad8 mutant mice. |
PH | Supplemental Table 1: A list of genes and functional categories that comprises a PHrelevant gene module (PH-module). |
| More detail of all Human literatures about SMAD9 | |
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Pathways and Diseases |
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Pathway | BMP receptor signaling;PID Curated;200123 |
Pathway | Signaling by BMP;Reactome;REACT:12034 |
Pathway | ALK1 signaling events;PID Curated;200126 |
Pathway | TGF-beta signaling pathway;PANTHER;P00052 |
Pathway | BMP Signalling Pathway;BioCyc;PWY66-11 |
Pathway | ALK2 signaling events;PID Curated;200138 |
Pathway | TGF-beta signaling pathway;KEGG PATHWAY;hsa04350 |
Disease | Pulmonary hypertension, primary;OMIM |
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External Links |
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Links to Entrez Gene | 4093 |
Links to all GeneRIF Items | 4093 |
Links to iHOP | 4093 |
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Sequence Information |
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Nucleotide Sequence |
>4093 : length: 1404 atgcactccaccacccccatcagctccctcttctccttcaccagccccgcagtgaagaga ctgctaggctggaagcaaggagatgaagaggaaaagtgggcagagaaggcagtggactct ctagtgaagaagttaaagaagaagaagggagccatggacgagctggagagggctctcagc tgcccggggcagcccagcaaatgcgtcacgattccccgctccctggacgggcggctgcag gtgtcccaccgcaagggcctgccccatgtgatttactgtcgcgtgtggcgctggccggat ctgcagtcccaccacgagctgaagccgctggagtgctgtgagttcccatttggctccaag cagaaagaagtgtgcattaacccttaccactaccgccgggtggagactccagtactgcct cctgtgctcgtgccaagacacagtgaatataacccccagctcagcctcctggccaagttc cgcagcgcctccctgcacagtgagccactcatgccacacaacgccacctatcctgactct ttccagcagcctccgtgctctgcactccctccctcacccagccacgcgttctcccagtcc ccgtgcacggccagctaccctcactccccaggaagtccttctgagccagagagtccctat caacactcagttgacacaccacccctgccttatcatgccacagaagcctctgagacccag agtggccaacctgtagatgccacagctgatagacatgtagtgctatcgataccaaatgga gactttcgaccagtttgttacgaggagccccagcactggtgctcggtcgcctactatgaa ctgaacaaccgagttggggagacattccaggcttcctcccgaagtgtgctcatagatggg ttcaccgacccttcaaataacaggaacagattctgtcttggacttctttctaatgtaaac agaaactcaacgatagaaaataccaggagacatataggaaagggtgtgcacttgtactac gtcgggggagaggtgtatgccgagtgcgtgagtgacagcagcatctttgtgcagagccgg aactgcaactatcaacacggcttccacccagctaccgtctgcaagatccccagcggctgc agcctcaaggtcttcaacaaccagctcttcgctcagctcctggcccagtcagttcaccac ggctttgaagtcgtgtatgaactgaccaagatgtgtactatccggatgagttttgttaag ggttggggtgctgagtatcatcgccaggatgtcaccagcaccccctgctggattgagatt catcttcatgggccactgcagtggctggacaaagttctgactcagatgggctctccacat aaccccatttcttcagtgtcttaa |
Protein Sequence |
>4093 : length: 467 MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALS CPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSK QKEVCINPYHYRRVETPVLPPVLVPRHSEYNPQLSLLAKFRSASLHSEPLMPHNATYPDS FQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPESPYQHSVDTPPLPYHATEASETQ SGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDG FTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSR NCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVK GWGAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS |