SMAD4 (mothers against decapentaplegic homolog 4 (Drosophila))

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SMAD4 (mothers against decapentaplegic homolog 4 (Drosophila))

Written	2004-08	Raphael 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 (NCBI)	MADH4
	DPC4
	JIP
HGNC (Hugo)	SMAD4
HGNC Alias symb	DPC4
HGNC Previous name	MADH4
HGNC Previous name	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)
	SMAD, mothers against DPP homolog 4 (Drosophila)"
LocusID (NCBI)	4089
Atlas_Id	371
Location	18q21.2 [Link to chromosome band 18q21]
Location_base_pair	Starts at 51030213 and ends at 51085041 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping SMAD4.png]


	Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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 ]

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) [ 8 ]

Colon: Colorectal adenocarcinoma
Liver: Fibrolamellar carcinoma
Head and Neck: Epidermoid carcinoma
Liver: Hepatocellular carcinoma
Pancreatic tumors: an overview
Squamous cell cancer
ELAC1/SMAD4 (18q21)
SMAD4/RAX (18q21)

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
Atlas	SMAD4ID371
Entrez_Gene (NCBI)	SMAD4 SMAD family member 4
Aliases	DPC4; JIP; MADH4; MYHRS
GeneCards (Weizmann)	SMAD4
Ensembl hg19 (Hinxton)	ENSG00000141646 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000141646 [Gene_View] ENSG00000141646 [Sequence] chr18:51030213-51085041 [Contig_View] SMAD4 [Vega]
ICGC DataPortal	ENSG00000141646
TCGA cBioPortal	SMAD4
AceView (NCBI)	SMAD4
Genatlas (Paris)	SMAD4
SOURCE (Princeton)	SMAD4
Genetics Home Reference (NIH)	SMAD4
	Genomic and cartography
GoldenPath hg38 (UCSC)	SMAD4 - chr18:51030213-51085041 + 18q21.2 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	SMAD4 - 18q21.2 [Description] (hg19-Feb_2009)
GoldenPath	SMAD4 - 18q21.2 [CytoView hg19] SMAD4 - 18q21.2 [CytoView hg38]
ImmunoBase	ENSG00000141646
genome Data Viewer NCBI	SMAD4 [Mapview hg19]
OMIM	139210 174900 175050 260350 600993
	Gene and transcription
Genbank (Entrez)	AK290770 AU120224 BC002379 BM701399 BX647129
RefSeq transcript (Entrez)	NM_005359
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	SMAD4
Alternative Splicing Gallery	ENSG00000141646
Gene Expression	SMAD4 [ NCBI-GEO ] SMAD4 [ EBI - ARRAY_EXPRESS ] SMAD4 [ SEEK ] SMAD4 [ MEM ]
Gene Expression Viewer (FireBrowse)	SMAD4 [ Firebrowse - Broad ]
Genevisible	Expression of SMAD4 in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	4089
GTEX Portal (Tissue expression)	SMAD4
Human Protein Atlas	ENSG00000141646-SMAD4 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q13485 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q13485 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q13485
Splice isoforms : SwissVar	Q13485
PhosPhoSitePlus	Q13485
Domaine pattern : Prosite (Expaxy)	MH1 (PS51075) MH2 (PS51076)
Domains : Interpro (EBI)	Dwarfin MAD_homology1_Dwarfin-type MAD_homology_MH1 SMAD-like_dom_sf SMAD_dom_Dwarfin-type SMAD_FHA_dom_sf SMAD_MH1_sf
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
Blocks (Seattle)	SMAD4
PDB (RSDB)	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
PDB Europe	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
PDB (PDBSum)	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
PDB (IMB)	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
Structural Biology KnowledgeBase	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
SCOP (Structural Classification of Proteins)	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
CATH (Classification of proteins structures)	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
Superfamily	Q13485
Human Protein Atlas [tissue]	ENSG00000141646-SMAD4 [tissue]
Peptide Atlas	Q13485
HPRD	02995
IPI	IPI00013404 IPI00909962 IPI01014946
	Protein Interaction databases
DIP (DOE-UCLA)	Q13485
IntAct (EBI)	Q13485
Complex Portal (EBI)	Q13485 CPX-3208 SMAD2-SMAD4 complex
	Q13485 CPX-3252 SMAD3-SMAD4 complex
	Q13485 CPX-54 SMAD1-SMAD4 complex
	Q13485 CPX-1 SMAD2-SMAD3-SMAD4 complex
BioGRID	SMAD4
STRING (EMBL)	SMAD4
ZODIAC	SMAD4
	Ontologies - Pathways
QuickGO	Q13485
Ontology : AmiGO	"negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II nuclear chromatin nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II proximal promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific proximal promoter sequence-specific DNA binding RNA polymerase II transcription factor binding transcription coactivator binding DNA-binding transcription activator activity, RNA polymerase II-specific ovarian follicle development branching involved in ureteric bud morphogenesis response to hypoxia in utero embryonic development gastrulation with mouth forming second outflow tract septum morphogenesis atrioventricular valve formation epithelial to mesenchymal transition involved in endocardial cushion formation left ventricular cardiac muscle tissue morphogenesis positive regulation of cell proliferation involved in heart valve morphogenesis brainstem development DNA binding chromatin binding DNA-binding transcription factor activity transcription coregulator activity protein binding collagen binding nucleus nucleoplasm nucleoplasm transcription factor complex transcription factor complex cytoplasm centrosome cytosol cytosol 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 transforming growth factor beta receptor signaling pathway SMAD protein complex assembly spermatogenesis single fertilization axon guidance cell proliferation negative regulation of cell proliferation negative regulation of cardiac muscle hypertrophy positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation neural crest cell differentiation protein deubiquitination 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 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 embryonic digit morphogenesis identical protein binding protein homodimerization activity sulfate binding sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II metal ion binding positive regulation of follicle-stimulating hormone secretion mesendoderm development 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 uterus development positive regulation of SMAD protein signal transduction SMAD protein signal transduction ventricular septum morphogenesis negative regulation of cell death endocardial cell differentiation female gonad morphogenesis pri-miRNA transcription by RNA polymerase II secondary palate development interleukin-6-mediated signaling pathway negative regulation of ERK1 and ERK2 cascade I-SMAD binding R-SMAD binding SMAD protein complex SMAD protein complex response to transforming growth factor beta cellular response to BMP stimulus metanephric mesenchyme morphogenesis nephrogenic mesenchyme morphogenesis seminiferous tubule development molecular function regulator positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus negative regulation of cardiac myofibril assembly positive regulation of histone H3-K9 acetylation"
Ontology : EGO-EBI	"negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II nuclear chromatin nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II proximal promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific proximal promoter sequence-specific DNA binding RNA polymerase II transcription factor binding transcription coactivator binding DNA-binding transcription activator activity, RNA polymerase II-specific ovarian follicle development branching involved in ureteric bud morphogenesis response to hypoxia in utero embryonic development gastrulation with mouth forming second outflow tract septum morphogenesis atrioventricular valve formation epithelial to mesenchymal transition involved in endocardial cushion formation left ventricular cardiac muscle tissue morphogenesis positive regulation of cell proliferation involved in heart valve morphogenesis brainstem development DNA binding chromatin binding DNA-binding transcription factor activity transcription coregulator activity protein binding collagen binding nucleus nucleoplasm nucleoplasm transcription factor complex transcription factor complex cytoplasm centrosome cytosol cytosol 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 transforming growth factor beta receptor signaling pathway SMAD protein complex assembly spermatogenesis single fertilization axon guidance cell proliferation negative regulation of cell proliferation negative regulation of cardiac muscle hypertrophy positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation neural crest cell differentiation protein deubiquitination 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 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 embryonic digit morphogenesis identical protein binding protein homodimerization activity sulfate binding sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II metal ion binding positive regulation of follicle-stimulating hormone secretion mesendoderm development 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 uterus development positive regulation of SMAD protein signal transduction SMAD protein signal transduction ventricular septum morphogenesis negative regulation of cell death endocardial cell differentiation female gonad morphogenesis pri-miRNA transcription by RNA polymerase II secondary palate development interleukin-6-mediated signaling pathway negative regulation of ERK1 and ERK2 cascade I-SMAD binding R-SMAD binding SMAD protein complex SMAD protein complex response to transforming growth factor beta cellular response to BMP stimulus metanephric mesenchyme morphogenesis nephrogenic mesenchyme morphogenesis seminiferous tubule development molecular function regulator positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus negative regulation of cardiac myofibril assembly positive regulation of histone H3-K9 acetylation"
Pathways : KEGG	FoxO 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
REACTOME	Q13485 [protein]
REACTOME Pathways	R-HSA-9617828 [pathway]
NDEx Network	SMAD4
Atlas of Cancer Signalling Network	SMAD4
Wikipedia pathways	SMAD4
	Orthology - Evolution
OrthoDB	4089
GeneTree (enSembl)	ENSG00000141646
Phylogenetic Trees/Animal Genes : TreeFam	SMAD4
HOGENOM	Q13485
Homologs : HomoloGene	SMAD4
Homology/Alignments : Family Browser (UCSC)	SMAD4
	Gene fusions - Rearrangements
Fusion : Mitelman	ELAC1/SMAD4 [18q21.2/18q21.2]
Fusion : Mitelman	SMAD4/RAX [18q21.2/18q21.32]
Fusion : Fusion_Hub	BLOC1S6--SMAD4 COBLL1--SMAD4 DACH1--SMAD4 ELAC1--SMAD4 FAM49B--SMAD4 HNRNPH1--SMAD4 KIAA1009--SMAD4 MAPK4--SMAD4 MAPRE2--SMAD4 MBD2--SMAD4 MDFIC--SMAD4 ME2--SMAD4 MICALCL--SMAD4 PAF1--SMAD4 PCDHGA4--SMAD4
	PCMTD1--SMAD4 PCSK2--SMAD4 PDS5B--SMAD4 RALBP1--SMAD4 RAX--SMAD4 SMAD4--ACAA2 SMAD4--ALK5 SMAD4--ATP9B SMAD4--GAB2 SMAD4--KIAA1328 SMAD4--MBD2 SMAD4--MOBP SMAD4--NAP1L1 SMAD4--NRG1 SMAD4--PCSK7
	SMAD4--POLI SMAD4--SKAP1 SMAD4--SMAD1 SMAD4--SMAD2 SMAD4--SMAD4 SMAD4--SUPT20H SMAD4--TTC39C SMAD4--UQCC1 SMAD5--SMAD4 TP53--SMAD4 VAC14--SMAD4 VPS39--SMAD4 ZNF532--SMAD4
Fusion : Quiver	SMAD4
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	SMAD4 [hg38]
dbVar	SMAD4
ClinVar	SMAD4
Monarch	SMAD4
1000_Genomes	SMAD4
Exome Variant Server	SMAD4
GNOMAD Browser	ENSG00000141646
Varsome Browser	SMAD4
Genomic Variants (DGV)	SMAD4 [DGVbeta]
DECIPHER	SMAD4 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	SMAD4
	Mutations
ICGC Data Portal	SMAD4
TCGA Data Portal	SMAD4
Broad Tumor Portal	SMAD4
OASIS Portal	SMAD4 [ Somatic mutations - Copy number]
Cancer Gene: Census	SMAD4
Somatic Mutations in Cancer : COSMIC	SMAD4 [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	SMAD4
Mutations and Diseases : HGMD	SMAD4
intOGen Portal	SMAD4
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
BioMuta	search 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)
intoGen	SMAD4
OncoKB	SMAD4
NCG6 (London)	select SMAD4
Cancer3D	SMAD4(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	139210 174900 175050 260350 600993
Orphanet	236 2385 3708 21951
DisGeNET	SMAD4
Medgen	SMAD4
Genetic Testing Registry	SMAD4
NextProt	Q13485 [Medical]
GENETests	SMAD4
Target Validation	SMAD4
Huge Navigator	SMAD4 [HugePedia]
ClinGen	SMAD4 (curated)
	Clinical trials, drugs, therapy
MyCancerGenome	SMAD4
Protein Interactions : CTD
Pharm GKB Gene	PA30527
Pharos	Q13485
Drug Sensitivity	SMAD4
Clinical trial	SMAD4
	Miscellaneous
canSAR (ICR)	SMAD4 (select the gene name)
Harmonizome	SMAD4
DataMed Index	SMAD4
Other database	http://cancergenome.broadinstitute.org/index.php?tgene=SMAD4
	Probes
	Litterature
PubMed	499 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
EVEX	SMAD4

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Fri Feb 19 18:00:31 CET 2021

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