| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 4089 |
Name | SMAD4 |
Synonym | DPC4|JIP|MADH4|MYHRS;SMAD family member 4;SMAD4;SMAD family member 4 |
Definition | MAD homolog 4|SMAD, mothers against DPP homolog 4|deleted in pancreatic carcinoma locus 4|deletion target in pancreatic carcinoma 4|mothers against decapentaplegic homolog 4|mothers against decapentaplegic, Drosophila, homolog of, 4 |
Position | 18q21.1 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | "A putative splice site mutation in SMAD4 resulted in moderate transcript loss due to compromised splicing efficiency in PAH, pulmonary arterial hypertension." |
| More detail of all Human literatures about SMAD4 | |
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Pathways and Diseases |
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Pathway | Signaling by BMP;PID Reactome;500592 |
Pathway | nfkb activation by nontypeable hemophilus influenzae;PID BioCarta;100088 |
Pathway | alk in cardiac myocytes;PID BioCarta;100244 |
Pathway | HIF-1-alpha transcription factor network;PID Curated;200172 |
Pathway | ALK1 signaling events;PID Curated;200126 |
Pathway | TGF-beta signaling pathway;PANTHER;P00052 |
Pathway | tgf beta signaling pathway;PID BioCarta;100017 |
Pathway | cell cycle: g1/s check point;PID BioCarta;100160 |
Pathway | Pancreatic cancer;KEGG PATHWAY;hsa05212 |
Pathway | Wnt signaling pathway;KEGG PATHWAY;hsa04310 |
Pathway | BMP receptor signaling;PID Curated;200123 |
Pathway | Chronic myeloid leukemia;KEGG PATHWAY;hsa05220 |
Pathway | TGF-beta receptor signaling;PID Curated;200195 |
Pathway | Regulation of nuclear SMAD2/3 signaling;PID Curated;200002 |
Pathway | BMP Signalling Pathway;BioCyc;PWY66-11 |
Pathway | Validated targets of C-MYC transcriptional repression;PID Curated;200171 |
Pathway | Validated targets of C-MYC transcriptional activation;PID Curated;200045 |
Pathway | Colorectal cancer;KEGG PATHWAY;hsa05210 |
Pathway | ctcf: first multivalent nuclear factor;PID BioCarta;100194 |
Pathway | LKB1 signaling events;PID Curated;200061 |
Pathway | Adherens junction;KEGG PATHWAY;hsa04520 |
Pathway | Wnt signaling pathway;PANTHER;P00057 |
Pathway | wnt signaling pathway;PID BioCarta;100002 |
Pathway | Signaling by BMP;Reactome;REACT:12034 |
Pathway | TGF-beta signaling pathway;KEGG PATHWAY;hsa04350 |
Pathway | Cell cycle;KEGG PATHWAY;hsa04110 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Pathway | Signaling by TGF beta;PID Reactome;500590 |
Pathway | ALK2 signaling events;PID Curated;200138 |
Pathway | Regulation of cytoplasmic and nuclear SMAD2/3 signaling;PID Curated;200152 |
Pathway | Signaling by TGF beta;Reactome;REACT:6844 |
Disease | Colorectal cancer;KEGG DISEASE;H00020 |
Disease | Capillaries disease;FunDO |
Disease | Cancers;KEGG DISEASE |
Disease | polyposis, gastric;GAD |
Disease | Pancreatic cancer;KEGG DISEASE;H00019 |
Disease | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;OMIM |
Disease | Pancreatic cancer;OMIM |
Disease | polyposis, juvenile;GAD |
Disease | Cancer;FunDO |
Disease | Cancers of the digestive system;KEGG DISEASE |
Disease | juvenile polyposis syndrome;GAD |
Disease | Polyposis, juvenile intestinal;OMIM |
Disease | Vascular disease;FunDO |
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External Links |
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Links to Entrez Gene | 4089 |
Links to all GeneRIF Items | 4089 |
Links to iHOP | 4089 |
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Sequence Information |
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Nucleotide Sequence |
>4089 : length: 1659 atggacaatatgtctattacgaatacaccaacaagtaatgatgcctgtctgagcattgtg catagtttgatgtgccatagacaaggtggagagagtgaaacatttgcaaaaagagcaatt gaaagtttggtaaagaagctgaaggagaaaaaagatgaattggattctttaataacagct ataactacaaatggagctcatcctagtaaatgtgttaccatacagagaacattggatggg aggcttcaggtggctggtcggaaaggatttcctcatgtgatctatgcccgtctctggagg tggcctgatcttcacaaaaatgaactaaaacatgttaaatattgtcagtatgcgtttgac ttaaaatgtgatagtgtctgtgtgaatccatatcactacgaacgagttgtatcacctgga attgatctctcaggattaacactgcagagtaatgctccatcaagtatgatggtgaaggat gaatatgtgcatgactttgagggacagccatcgttgtccactgaaggacattcaattcaa accatccagcatccaccaagtaatcgtgcatcgacagagacatacagcaccccagctctg ttagccccatctgagtctaatgctaccagcactgccaactttcccaacattcctgtggct tccacaagtcagcctgccagtatactggggggcagccatagtgaaggactgttgcagata gcatcagggcctcagccaggacagcagcagaatggatttactggtcagccagctacttac catcataacagcactaccacctggactggaagtaggactgcaccatacacacctaatttg cctcaccaccaaaacggccatcttcagcaccacccgcctatgccgccccatcccggacat tactggcctgttcacaatgagcttgcattccagcctcccatttccaatcatcctgctcct gagtattggtgttccattgcttactttgaaatggatgttcaggtaggagagacatttaag gttccttcaagctgccctattgttactgttgatggatacgtggacccttctggaggagat cgcttttgtttgggtcaactctccaatgtccacaggacagaagccattgagagagcaagg ttgcacataggcaaaggtgtgcagttggaatgtaaaggtgaaggtgatgtttgggtcagg tgccttagtgaccacgcggtctttgtacagagttactacttagacagagaagctgggcgt gcacctggagatgctgttcataagatctacccaagtgcatatataaaggtctttgatttg cgtcagtgtcatcgacagatgcagcagcaggcggctactgcacaagctgcagcagctgcc caggcagcagccgtggcaggaaacatccctggcccaggatcagtaggtggaatagctcca gctatcagtctgtcagctgctgctggaattggtgttgatgaccttcgtcgcttatgcata ctcaggatgagttttgtgaaaggctggggaccggattacccaagacagagcatcaaagaa acaccttgctggattgaaattcacttacaccgggccctccagctcctagacgaagtactt cataccatgccgattgcagacccacaacctttagactga |
Protein Sequence |
>4089 : length: 552 MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITA ITTNGAHPSKCVTIQRTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFD LKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGH YWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGD RFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGR APGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVL HTMPIADPQPLD |