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SMAD4 (mothers against decapentaplegic homolog 4 (Drosophila))

Written2004-08Raphael Saffroy, Antoinette Lemoine, Brigitte Debuire
Service de Biochimie et Biologie moleculaire, Hopital Paul Brousse, Faculte de Medecine Paris Sud, 94 800 Villejuif, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesMADH4
MAD, mothers against decapentaplegic homolog 4 (Drosophila)
SMAD, mothers against DPP homolog 4 (Drosophila)
Alias_symbol (synonym)DPC4
HGNC (Hugo) SMAD4
LocusID (NCBI) 4089
Atlas_Id 371
Location 18q21.2  [Link to chromosome band 18q21]
Location_base_pair Starts at 48556583 and ends at 48611411 bp from pter ( according to hg19-Feb_2009)  [Mapping SMAD4.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
COBLL1 (2q24.3) / SMAD4 (18q21.2)DACH1 (13q21.33) / SMAD4 (18q21.2)ELAC1 (18q21.2) / SMAD4 (18q21.2)
PCSK2 (20p12.1) / SMAD4 (18q21.2)SMAD4 (18q21.2) / RAX (18q21.32)SMAD4 (18q21.2) / SMAD4 (18q21.2)

DNA/RNA

Description The gene encompasses 49.5 kb of DNA; 13 exons.
Transcription 3220 nucleotides mRNA.

Protein

Description 552 amino acids; 60.4 kDa protein. Smad4 belongs to the Darfwin family of proteins which harbours two conserved amino- and carboxyl-terminal domains known as MH1 and MH2, respectively. Smad4 in the basal state is found mostly as a homo-oligomer, most likely a trimer.
Expression Ubiquitous.
Function Smad4 is an intracellular mediator of TGF-beta family and activin type 1 receptor. Smad4 mediate TGF-beta signaling to regulate cell growth and differentiation. TGF-beta stimulation leads to phosphorylation and activation of Smad2 and Smad3, which form complexes with Smad4 that accumulate in the nucleus and regulate transcription of target genes. By interacting with DNA-binding proteins, Smad complexes then positively or negatively regulate the transcription of target genes.
Homology With the other members of the Darfwin/Smad family.

Implicated in

Note
Entity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Disease Juvenile polyposis and hereditary hemorrhagic telangiectasia syndrome is an autosomal dominant disorder with distinct clinical features. One form corresponding to a predisposition to gastrointestinal polyps and cancer may be associated with mutations in Smad4 gene.
Oncogenesis Polyps are formed by inactivation of the Smad4 gene through germline mutations and loss of the unaffected wild-type allele.
  
Entity Pancreatic carcinoma
Disease 90% of pancreatic carcinomas show allelic loss at 18q. A consensus region of homozygous deletion at 18q21.1 was found in one third of pancreatic carcinomas and intragenic mutations were found in another 20% of this tumor type.
Prognosis Smad4 expression may be a molecular prognostic marker for pancreatic carcinoma. A lower patient survival may be associated with loss of Smad4 expression.
Oncogenesis Smad4 was proposed to be a tumor suppressor gene that may function to disrupt TGF-beta signaling. Mutant Smad4 proteins, identified in human carcinomas, were found to be impaired in their ability to regulate gene transcription. Most of Smad4 gene mutations in human cancer are missense, nonsense, and frameshift mutations at the mad homology 2 region (MH2) which interfere with the homo-oligomer formation of Smad4 protein and hetero-oligomer formation between Smad4 and Smad2 proteins, resulting in disruption of TGF-beta signaling.
  

To be noted

Mutation of Smad4 is seen also in approximately 15% of colorectal carcinomas and occasionally (less than 10%) in the rest of human cancers such as breast, ovarian, hepatocellular or head and neck squamous cell carcinomas.

Bibliography

Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients.
Friedl W, Kruse R, Uhlhaas S, Stolte M, Schartmann B, Keller KM, Jungck M, Stern M, Loff S, Back W, Propping P, Jenne DE
Genes, chromosomes & cancer. 1999 ; 25 (4) : 403-406.
PMID 10398437
 
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
Friedl W, Uhlhaas S, Schulmann K, Stolte M, Loff S, Back W, Mangold E, Stern M, Knaebel HP, Sutter C, Weber RG, Pistorius S, Burger B, Propping P
Human genetics. 2002 ; 111 (1) : 108-111.
PMID 12136244
 
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA
Lancet. 2004 ; 363 (9412) : 852-859.
PMID 15031030
 
DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1.
Hahn SA, Schutte M, Hoque AT, Moskaluk CA, da Costa LT, Rozenblum E, Weinstein CL, Fischer A, Yeo CJ, Hruban RH, Kern SE
Science (New York, N.Y.). 1996 ; 271 (5247) : 350-353.
PMID 8553070
 
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas MA, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I
Human molecular genetics. 1998 ; 7 (12) : 1907-1912.
PMID 9811934
 
A gene for familial juvenile polyposis maps to chromosome 18q21.1.
Howe JR, Ringold JC, Summers RW, Mitros FA, Nishimura DY, Stone EM
American journal of human genetics. 1998 ; 62 (5) : 1129-1136.
PMID 9545410
 
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Howe JR, Roth S, Ringold JC, Summers RW, Järvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA
Science (New York, N.Y.). 1998 ; 280 (5366) : 1086-1088.
PMID 9582123
 
Nucleocytoplasmic shuttling of Smads 2, 3, and 4 permits sensing of TGF-beta receptor activity.
Inman GJ, Nicol´ FJ, Hill CS
Molecular cell. 2002 ; 10 (2) : 283-294.
PMID 12191474
 
Distinct oligomeric states of SMAD proteins in the transforming growth factor-beta pathway.
Jayaraman L, Massague J
The Journal of biological chemistry. 2000 ; 275 (52) : 40710-40717.
PMID 11018029
 
DPC4, a candidate tumor suppressor gene, is altered infrequently in head and neck squamous cell carcinoma.
Kim SK, Fan Y, Papadimitrakopoulou V, Clayman G, Hittelman WN, Hong WK, Lotan R, Mao L
Cancer research. 1996 ; 56 (11) : 2519-2521.
PMID 8653689
 
Higher frequency of Smad4 gene mutation in human colorectal cancer with distant metastasis.
Miyaki M, Iijima T, Konishi M, Sakai K, Ishii A, Yasuno M, Hishima T, Koike M, Shitara N, Iwama T, Utsunomiya J, Kuroki T, Mori T
Oncogene. 1999 ; 18 (20) : 3098-3103.
PMID 10340381
 
Role of Smad4 (DPC4) inactivation in human cancer.
Miyaki M, Kuroki T
Biochemical and biophysical research communications. 2003 ; 306 (4) : 799-804.
PMID 12821112
 
DPC4 gene in various tumor types.
Schutte M, Hruban RH, Hedrick L, Cho KR, Nadasdy GM, Weinstein CL, Bova GS, Isaacs WB, Cairns P, Nawroz H, Sidransky D, Casero RA Jr, Meltzer PS, Hahn SA, Kern SE
Cancer research. 1996 ; 56 (11) : 2527-2530.
PMID 8653691
 
Transcriptional activating activity of Smad4: roles of SMAD hetero-oligomerization and enhancement by an associating transactivator.
Shioda T, Lechleider RJ, Dunwoodie SL, Li H, Yahata T, de Caestecker MP, Fenner MH, Roberts AB, Isselbacher KJ
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (17) : 9785-9790.
PMID 9707553
 
Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers.
Thiagalingam S, Lengauer C, Leach FS, Schutte M, Hahn SA, Overhauser J, Willson JK, Markowitz S, Hamilton SR, Kern SE, Kinzler KW, Vogelstein B
Nature genetics. 1996 ; 13 (3) : 343-346.
PMID 8673134
 
Smad2 and Smad4 gene mutations in hepatocellular carcinoma.
Yakicier MC, Irmak MB, Romano A, Kew M, Ozturk M
Oncogene. 1999 ; 18 (34) : 4879-4883.
PMID 10490821
 
Human Smad3 and Smad4 are sequence-specific transcription activators.
Zawel L, Dai JL, Buckhaults P, Zhou S, Kinzler KW, Vogelstein B, Kern SE
Molecular cell. 1998 ; 1 (4) : 611-617.
PMID 9660945
 
Targeted deletion of Smad4 shows it is required for transforming growth factor beta and activin signaling in colorectal cancer cells.
Zhou S, Buckhaults P, Zawel L, Bunz F, Riggins G, Dai JL, Kern SE, Kinzler KW, Vogelstein B
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (5) : 2412-2416.
PMID 9482899
 

Citation

This paper should be referenced as such :
Saffroy, R ; Lemoine, A ; Debuire, B
SMAD4 (mothers against decapentaplegic homolog 4 (Drosophila))
Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):287-288.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SMAD4ID371.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;13)(p12;q21) PAX5/DACH1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Colon: Colorectal adenocarcinoma
Liver: Fibrolamellar carcinoma
Head and Neck: Epidermoid carcinoma
Liver: Hepatocellular carcinoma
Pancreatic tumors: an overview
Squamous cell cancer


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial Juvenile Polyposis Syndrome


External links

Nomenclature
HGNC (Hugo)SMAD4   6770
LRG (Locus Reference Genomic)LRG_318
Cards
AtlasSMAD4ID371
Entrez_Gene (NCBI)SMAD4  4089  SMAD family member 4
AliasesDPC4; JIP; MADH4; MYHRS
GeneCards (Weizmann)SMAD4
Ensembl hg19 (Hinxton)ENSG00000141646 [Gene_View]  chr18:48556583-48611411 [Contig_View]  SMAD4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000141646 [Gene_View]  chr18:48556583-48611411 [Contig_View]  SMAD4 [Vega]
ICGC DataPortalENSG00000141646
TCGA cBioPortalSMAD4
AceView (NCBI)SMAD4
Genatlas (Paris)SMAD4
WikiGenes4089
SOURCE (Princeton)SMAD4
Genetics Home Reference (NIH)SMAD4
Genomic and cartography
GoldenPath hg19 (UCSC)SMAD4  -     chr18:48556583-48611411 +  18q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMAD4  -     18q21.1   [Description]    (hg38-Dec_2013)
EnsemblSMAD4 - 18q21.1 [CytoView hg19]  SMAD4 - 18q21.1 [CytoView hg38]
Mapping of homologs : NCBISMAD4 [Mapview hg19]  SMAD4 [Mapview hg38]
OMIM139210   174900   175050   260350   600993   
Gene and transcription
Genbank (Entrez)AK290770 AU120224 BC002379 BM701399 BX647129
RefSeq transcript (Entrez)NM_005359
RefSeq genomic (Entrez)NC_000018 NC_018929 NG_013013 NT_010966 NW_004929410
Consensus coding sequences : CCDS (NCBI)SMAD4
Cluster EST : UnigeneHs.75862 [ NCBI ]
CGAP (NCI)Hs.75862
Alternative Splicing GalleryENSG00000141646
Gene ExpressionSMAD4 [ NCBI-GEO ]   SMAD4 [ EBI - ARRAY_EXPRESS ]   SMAD4 [ SEEK ]   SMAD4 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4089
GTEX Portal (Tissue expression)SMAD4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13485   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13485  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13485
Splice isoforms : SwissVarQ13485
PhosPhoSitePlusQ13485
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin    MAD_homology1_Dwarfin-type    MAD_homology_MH1    SMAD_dom-like    SMAD_dom_Dwarfin-type    SMAD_FHA_domain   
Domain families : Pfam (Sanger)MH1 (PF03165)    MH2 (PF03166)   
Domain families : Pfam (NCBI)pfam03165    pfam03166   
Domain families : Smart (EMBL)DWA (SM00523)  DWB (SM00524)  
Conserved Domain (NCBI)SMAD4
DMDM Disease mutations4089
Blocks (Seattle)SMAD4
PDB (SRS)1DD1    1G88    1MR1    1U7F    1U7V    1YGS   
PDB (PDBSum)1DD1    1G88    1MR1    1U7F    1U7V    1YGS   
PDB (IMB)1DD1    1G88    1MR1    1U7F    1U7V    1YGS   
PDB (RSDB)1DD1    1G88    1MR1    1U7F    1U7V    1YGS   
Structural Biology KnowledgeBase1DD1    1G88    1MR1    1U7F    1U7V    1YGS   
SCOP (Structural Classification of Proteins)1DD1    1G88    1MR1    1U7F    1U7V    1YGS   
CATH (Classification of proteins structures)1DD1    1G88    1MR1    1U7F    1U7V    1YGS   
SuperfamilyQ13485
Human Protein AtlasENSG00000141646
Peptide AtlasQ13485
HPRD02995
IPIIPI00013404   IPI00909962   IPI01014946   
Protein Interaction databases
DIP (DOE-UCLA)Q13485
IntAct (EBI)Q13485
FunCoupENSG00000141646
BioGRIDSMAD4
STRING (EMBL)SMAD4
ZODIACSMAD4
Ontologies - Pathways
QuickGOQ13485
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter proximal region sequence-specific DNA binding  transcription factor activity, protein binding  transcription factor activity, RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  ovarian follicle development  branching involved in ureteric bud morphogenesis  response to hypoxia  in utero embryonic development  gastrulation with mouth forming second  atrioventricular valve formation  epithelial to mesenchymal transition involved in endocardial cushion formation  positive regulation of cell proliferation involved in heart valve morphogenesis  cardiac septum development  brainstem development  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  collagen binding  nucleus  nucleoplasm  transcription factor complex  transcription factor complex  cytoplasm  cytosol  transcription from RNA polymerase II promoter  cellular iron ion homeostasis  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  spermatogenesis  single fertilization  axon guidance  endoderm development  mesoderm development  cell proliferation  negative regulation of cell proliferation  positive regulation of epithelial to mesenchymal transition  positive regulation of pathway-restricted SMAD protein phosphorylation  neural crest cell differentiation  regulation of transforming growth factor beta receptor signaling pathway  negative regulation of cell growth  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  positive regulation of transforming growth factor beta receptor signaling pathway  positive regulation of BMP signaling pathway  transforming growth factor beta receptor, common-partner cytoplasmic mediator activity  activin responsive factor complex  somite rostral/caudal axis specification  regulation of transforming growth factor beta2 production  positive regulation of luteinizing hormone secretion  somatic stem cell population maintenance  intracellular signal transduction  atrioventricular canal development  endothelial cell activation  negative regulation of protein catabolic process  embryonic digit morphogenesis  identical protein binding  protein homodimerization activity  sequence-specific DNA binding  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  positive regulation of follicle-stimulating hormone secretion  protein heterodimerization activity  developmental growth  neuron fate commitment  sebaceous gland development  formation of anatomical boundary  regulation of binding  positive regulation of histone H3-K4 methylation  regulation of hair follicle development  palate development  uterus development  positive regulation of SMAD protein import into nucleus  SMAD protein signal transduction  negative regulation of cell death  endocardial cell differentiation  female gonad morphogenesis  interleukin-6-mediated signaling pathway  I-SMAD binding  R-SMAD binding  SMAD protein complex  response to transforming growth factor beta  cellular response to BMP stimulus  metanephric mesenchyme morphogenesis  nephrogenic mesenchyme morphogenesis  seminiferous tubule development  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  positive regulation of histone H3-K9 acetylation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter proximal region sequence-specific DNA binding  transcription factor activity, protein binding  transcription factor activity, RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  ovarian follicle development  branching involved in ureteric bud morphogenesis  response to hypoxia  in utero embryonic development  gastrulation with mouth forming second  atrioventricular valve formation  epithelial to mesenchymal transition involved in endocardial cushion formation  positive regulation of cell proliferation involved in heart valve morphogenesis  cardiac septum development  brainstem development  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  collagen binding  nucleus  nucleoplasm  transcription factor complex  transcription factor complex  cytoplasm  cytosol  transcription from RNA polymerase II promoter  cellular iron ion homeostasis  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  spermatogenesis  single fertilization  axon guidance  endoderm development  mesoderm development  cell proliferation  negative regulation of cell proliferation  positive regulation of epithelial to mesenchymal transition  positive regulation of pathway-restricted SMAD protein phosphorylation  neural crest cell differentiation  regulation of transforming growth factor beta receptor signaling pathway  negative regulation of cell growth  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  positive regulation of transforming growth factor beta receptor signaling pathway  positive regulation of BMP signaling pathway  transforming growth factor beta receptor, common-partner cytoplasmic mediator activity  activin responsive factor complex  somite rostral/caudal axis specification  regulation of transforming growth factor beta2 production  positive regulation of luteinizing hormone secretion  somatic stem cell population maintenance  intracellular signal transduction  atrioventricular canal development  endothelial cell activation  negative regulation of protein catabolic process  embryonic digit morphogenesis  identical protein binding  protein homodimerization activity  sequence-specific DNA binding  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  positive regulation of follicle-stimulating hormone secretion  protein heterodimerization activity  developmental growth  neuron fate commitment  sebaceous gland development  formation of anatomical boundary  regulation of binding  positive regulation of histone H3-K4 methylation  regulation of hair follicle development  palate development  uterus development  positive regulation of SMAD protein import into nucleus  SMAD protein signal transduction  negative regulation of cell death  endocardial cell differentiation  female gonad morphogenesis  interleukin-6-mediated signaling pathway  I-SMAD binding  R-SMAD binding  SMAD protein complex  response to transforming growth factor beta  cellular response to BMP stimulus  metanephric mesenchyme morphogenesis  nephrogenic mesenchyme morphogenesis  seminiferous tubule development  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  positive regulation of histone H3-K9 acetylation  
Pathways : BIOCARTACTCF: First Multivalent Nuclear Factor [Genes]    TGF beta signaling pathway [Genes]    Role of Tob in T-cell activation [Genes]    ALK in cardiac myocytes [Genes]    WNT Signaling Pathway [Genes]    Cell Cycle: G1/S Check Point [Genes]    NFkB activation by Nontypeable Hemophilus influenzae [Genes]   
Pathways : KEGGFoxO signaling pathway    Cell cycle    Wnt signaling pathway    TGF-beta signaling pathway    Hippo signaling pathway    Adherens junction    Hepatitis B    HTLV-I infection    Pathways in cancer    Colorectal cancer    Pancreatic cancer    Chronic myeloid leukemia   
REACTOMEQ13485 [protein]
REACTOME PathwaysR-HSA-452723 Transcriptional regulation of pluripotent stem cells [pathway]
REACTOME PathwaysR-HSA-1502540 Signaling by Activin [pathway]
REACTOME PathwaysR-HSA-3315487 SMAD2/3 MH2 Domain Mutants in Cancer [pathway]
REACTOME PathwaysR-HSA-2173789 TGF-beta receptor signaling activates SMADs [pathway]
REACTOME PathwaysR-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity [pathway]
REACTOME PathwaysR-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription [pathway]
REACTOME PathwaysR-HSA-3311021 SMAD4 MH2 Domain Mutants in Cancer [pathway]
REACTOME PathwaysR-HSA-201451 Signaling by BMP [pathway]
REACTOME PathwaysR-HSA-1181150 Signaling by NODAL [pathway]
NDEx NetworkSMAD4
Atlas of Cancer Signalling NetworkSMAD4
Wikipedia pathwaysSMAD4
Orthology - Evolution
OrthoDB4089
GeneTree (enSembl)ENSG00000141646
Phylogenetic Trees/Animal Genes : TreeFamSMAD4
HOVERGENQ13485
HOGENOMQ13485
Homologs : HomoloGeneSMAD4
Homology/Alignments : Family Browser (UCSC)SMAD4
Gene fusions - Rearrangements
Fusion : MitelmanELAC1/SMAD4 [18q21.2/18q21.2]  [t(18;18)(q21;q21)]  
Fusion : MitelmanSMAD4/RAX [18q21.2/18q21.32]  [t(18;18)(q21;q21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD4
dbVarSMAD4
ClinVarSMAD4
1000_GenomesSMAD4 
Exome Variant ServerSMAD4
ExAC (Exome Aggregation Consortium)SMAD4 (select the gene name)
Genetic variants : HAPMAP4089
Genomic Variants (DGV)SMAD4 [DGVbeta]
DECIPHER (Syndromes)18:48556583-48611411  ENSG00000141646
CONAN: Copy Number AnalysisSMAD4 
Mutations
ICGC Data PortalSMAD4 
TCGA Data PortalSMAD4 
Broad Tumor PortalSMAD4
OASIS PortalSMAD4 [ Somatic mutations - Copy number]
Cancer Gene: CensusSMAD4 
Somatic Mutations in Cancer : COSMICSMAD4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMAD4
intOGen PortalSMAD4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch SMAD4
DgiDB (Drug Gene Interaction Database)SMAD4
DoCM (Curated mutations)SMAD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMAD4 (select a term)
intoGenSMAD4
NCG5 (London)SMAD4
Cancer3DSMAD4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139210    174900    175050    260350    600993   
Orphanet236    2385    3708    21951   
MedgenSMAD4
Genetic Testing Registry SMAD4
NextProtQ13485 [Medical]
TSGene4089
GENETestsSMAD4
Huge Navigator SMAD4 [HugePedia]
snp3D : Map Gene to Disease4089
BioCentury BCIQSMAD4
ClinGenSMAD4 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4089
Chemical/Pharm GKB GenePA30527
Drug Sensitivity SMAD4
Clinical trialSMAD4
Miscellaneous
canSAR (ICR)SMAD4 (select the gene name)
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=SMAD4
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMAD4
EVEXSMAD4
GoPubMedSMAD4
iHOPSMAD4
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Nov 18 20:01:21 CET 2016

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