Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMAD3 (SMAD family member 3)

Identity

Other namesHSPC193
HsT17436
JV15-2
LDS1C
LDS3
MADH3
HGNC (Hugo) SMAD3
LocusID (NCBI) 4088
Atlas_Id 41229
Location 15q22.33
Location_base_pair Starts at 67418054 and ends at 67487533 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CD74 (5q32) / SMAD3 (15q22.33)SMAD3 (15q22.33) / AAGAB (15q22.33)SMAD3 (15q22.33) / DIS3L (15q22.31)
SMAD3 (15q22.33) / EXOC4 (7q33)SMAD3 (15q22.33) / PHLDB1 (11q23.3)SMAD3 (15q22.33) / SENP8 (15q23)
SMAD3 (15q22.33) / SLC9A9 (3q24)SMAD3 (15q22.33) / SMAD3 (15q22.33)SMAD3 (15q22.33) / SMAD6 (15q22.31)
SMAD3 (15q22.33) / TACC1 (8p11.22)SMAD3 15q22.33 / DIS3L 15q22.31SMAD3 15q22.33 / SENP8 15q23
SMAD3 15q22.33 / SLC9A9 3q24SMAD3 15q22.33 / SMAD6 15q22.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  inv(3)(q21q26) PSMD2/MECOM
t(9;10)(q34;q22) ZMIZ1/ABL1
t(11;19)(q13;p13) FSTL3/CCND1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Colon: Colorectal adenocarcinoma

External links

Nomenclature
HGNC (Hugo)SMAD3   6769
Cards
Entrez_Gene (NCBI)SMAD3  4088  SMAD family member 3
GeneCards (Weizmann)SMAD3
Ensembl hg19 (Hinxton)ENSG00000166949 [Gene_View]  chr15:67418054-67487533 [Contig_View]  SMAD3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166949 [Gene_View]  chr15:67418054-67487533 [Contig_View]  SMAD3 [Vega]
ICGC DataPortalENSG00000166949
TCGA cBioPortalSMAD3
AceView (NCBI)SMAD3
Genatlas (Paris)SMAD3
WikiGenes4088
SOURCE (Princeton)SMAD3
Genomic and cartography
GoldenPath hg19 (UCSC)SMAD3  -     chr15:67418054-67487533 +  15q22.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMAD3  -     15q22.33   [Description]    (hg38-Dec_2013)
EnsemblSMAD3 - 15q22.33 [CytoView hg19]  SMAD3 - 15q22.33 [CytoView hg38]
Mapping of homologs : NCBISMAD3 [Mapview hg19]  SMAD3 [Mapview hg38]
OMIM603109   613795   
Gene and transcription
Genbank (Entrez)AA493306 AB209616 AF151027 AI762628 AI991957
RefSeq transcript (Entrez)NM_001145102 NM_001145103 NM_001145104 NM_005902
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_011990 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)SMAD3
Cluster EST : UnigeneHs.742270 [ NCBI ]
CGAP (NCI)Hs.742270
Alternative Splicing : Fast-db (Paris)GSHG0009955
Alternative Splicing GalleryENSG00000166949
Gene ExpressionSMAD3 [ NCBI-GEO ]   SMAD3 [ EBI - ARRAY_EXPRESS ]   SMAD3 [ SEEK ]   SMAD3 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4088
Protein : pattern, domain, 3D structure
UniProt/SwissProtP84022 (Uniprot)
NextProtP84022  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP84022
Splice isoforms : SwissVarP84022 (Swissvar)
PhosPhoSitePlusP84022
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)  
DMDM Disease mutations4088
Blocks (Seattle)SMAD3
PDB (SRS)1MHD    1MJS    1MK2    1OZJ    1U7F    2LAJ    2LB2   
PDB (PDBSum)1MHD    1MJS    1MK2    1OZJ    1U7F    2LAJ    2LB2   
PDB (IMB)1MHD    1MJS    1MK2    1OZJ    1U7F    2LAJ    2LB2   
PDB (RSDB)1MHD    1MJS    1MK2    1OZJ    1U7F    2LAJ    2LB2   
Structural Biology KnowledgeBase1MHD    1MJS    1MK2    1OZJ    1U7F    2LAJ    2LB2   
SCOP (Structural Classification of Proteins)1MHD    1MJS    1MK2    1OZJ    1U7F    2LAJ    2LB2   
CATH (Classification of proteins structures)1MHD    1MJS    1MK2    1OZJ    1U7F    2LAJ    2LB2   
SuperfamilyP84022
Human Protein AtlasENSG00000166949
Peptide AtlasP84022
HPRD04380
IPIIPI00024305   IPI00383289   IPI00922059   IPI00922698   IPI00922049   
Protein Interaction databases
DIP (DOE-UCLA)P84022
IntAct (EBI)P84022
FunCoupENSG00000166949
BioGRIDSMAD3
STRING (EMBL)SMAD3
ZODIACSMAD3
Ontologies - Pathways
QuickGOP84022
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative 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  transcription factor activity, RNA polymerase II core promoter sequence-specific  core promoter proximal region sequence-specific DNA binding  transcription factor activity, protein binding  RNA polymerase II activating transcription factor binding  ureteric bud development  response to hypoxia  in utero embryonic development  mesoderm formation  somitogenesis  liver development  negative regulation of protein phosphorylation  heart looping  osteoblast development  immune system development  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transforming growth factor beta receptor binding  protein binding  collagen binding  nucleus  nuclear inner membrane  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  plasma membrane  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  transport  activation of cysteine-type endopeptidase activity involved in apoptotic process  immune response  cell cycle arrest  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  endoderm development  beta-catenin binding  transcription factor binding  zinc ion binding  embryonic pattern specification  positive regulation of gene expression  positive regulation of alkaline phosphatase activity  positive regulation of epithelial to mesenchymal transition  positive regulation of epithelial to mesenchymal transition  regulation of striated muscle tissue development  regulation of transforming growth factor beta receptor signaling pathway  evasion or tolerance of host defenses by virus  protein kinase binding  phosphatase binding  signal transduction involved in regulation of gene expression  negative regulation of cell growth  positive regulation of cell migration  positive regulation of bone mineralization  negative regulation of transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  thyroid gland development  primary miRNA processing  chromatin DNA binding  ubiquitin protein ligase binding  positive regulation of chondrocyte differentiation  positive regulation of interleukin-1 beta production  regulation of transforming growth factor beta2 production  positive regulation of transforming growth factor beta3 production  activin receptor signaling pathway  negative regulation of osteoblast proliferation  enhancer binding  positive regulation of catenin import into nucleus  nodal signaling pathway  wound healing  T cell activation  negative regulation of protein catabolic process  identical protein binding  protein homodimerization activity  positive regulation of transcription factor import into nucleus  negative regulation of apoptotic process  ubiquitin binding  receptor complex  bHLH transcription factor binding  sequence-specific DNA binding  transcription regulatory region DNA binding  cell-cell junction organization  negative regulation of fat cell differentiation  negative regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  negative regulation of mitotic cell cycle  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  protein heterodimerization activity  paraxial mesoderm morphogenesis  developmental growth  embryonic foregut morphogenesis  embryonic cranial skeleton morphogenesis  regulation of epithelial cell proliferation  negative regulation of inflammatory response  regulation of immune response  protein stabilization  positive regulation of positive chemotaxis  regulation of binding  positive regulation of stress fiber assembly  positive regulation of focal adhesion assembly  pericardium development  transdifferentiation  SMAD protein signal transduction  negative regulation of wound healing  lens fiber cell differentiation  co-SMAD binding  R-SMAD binding  SMAD protein complex  SMAD2-SMAD3 protein complex  positive regulation of canonical Wnt signaling pathway  extrinsic apoptotic signaling pathway  activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of extracellular matrix assembly  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative 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  transcription factor activity, RNA polymerase II core promoter sequence-specific  core promoter proximal region sequence-specific DNA binding  transcription factor activity, protein binding  RNA polymerase II activating transcription factor binding  ureteric bud development  response to hypoxia  in utero embryonic development  mesoderm formation  somitogenesis  liver development  negative regulation of protein phosphorylation  heart looping  osteoblast development  immune system development  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transforming growth factor beta receptor binding  protein binding  collagen binding  nucleus  nuclear inner membrane  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  plasma membrane  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  transport  activation of cysteine-type endopeptidase activity involved in apoptotic process  immune response  cell cycle arrest  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  endoderm development  beta-catenin binding  transcription factor binding  zinc ion binding  embryonic pattern specification  positive regulation of gene expression  positive regulation of alkaline phosphatase activity  positive regulation of epithelial to mesenchymal transition  positive regulation of epithelial to mesenchymal transition  regulation of striated muscle tissue development  regulation of transforming growth factor beta receptor signaling pathway  evasion or tolerance of host defenses by virus  protein kinase binding  phosphatase binding  signal transduction involved in regulation of gene expression  negative regulation of cell growth  positive regulation of cell migration  positive regulation of bone mineralization  negative regulation of transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  thyroid gland development  primary miRNA processing  chromatin DNA binding  ubiquitin protein ligase binding  positive regulation of chondrocyte differentiation  positive regulation of interleukin-1 beta production  regulation of transforming growth factor beta2 production  positive regulation of transforming growth factor beta3 production  activin receptor signaling pathway  negative regulation of osteoblast proliferation  enhancer binding  positive regulation of catenin import into nucleus  nodal signaling pathway  wound healing  T cell activation  negative regulation of protein catabolic process  identical protein binding  protein homodimerization activity  positive regulation of transcription factor import into nucleus  negative regulation of apoptotic process  ubiquitin binding  receptor complex  bHLH transcription factor binding  sequence-specific DNA binding  transcription regulatory region DNA binding  cell-cell junction organization  negative regulation of fat cell differentiation  negative regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  negative regulation of mitotic cell cycle  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  protein heterodimerization activity  paraxial mesoderm morphogenesis  developmental growth  embryonic foregut morphogenesis  embryonic cranial skeleton morphogenesis  regulation of epithelial cell proliferation  negative regulation of inflammatory response  regulation of immune response  protein stabilization  positive regulation of positive chemotaxis  regulation of binding  positive regulation of stress fiber assembly  positive regulation of focal adhesion assembly  pericardium development  transdifferentiation  SMAD protein signal transduction  negative regulation of wound healing  lens fiber cell differentiation  co-SMAD binding  R-SMAD binding  SMAD protein complex  SMAD2-SMAD3 protein complex  positive regulation of canonical Wnt signaling pathway  extrinsic apoptotic signaling pathway  activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of extracellular matrix assembly  
Pathways : BIOCARTACell Cycle: G1/S Check Point [Genes]    NFkB activation by Nontypeable Hemophilus influenzae [Genes]    TGF beta signaling pathway [Genes]    Role of Tob in T-cell activation [Genes]   
Pathways : KEGGFoxO signaling pathway    Cell cycle    Endocytosis    Wnt signaling pathway    TGF-beta signaling pathway    Hippo signaling pathway    Adherens junction    Chagas disease (American trypanosomiasis)    Hepatitis B    HTLV-I infection    Pathways in cancer    Colorectal cancer    Pancreatic cancer    Chronic myeloid leukemia    Inflammatory bowel disease (IBD)   
NDEx Network
Atlas of Cancer Signalling NetworkSMAD3
Wikipedia pathwaysSMAD3
Orthology - Evolution
OrthoDB4088
GeneTree (enSembl)ENSG00000166949
Phylogenetic Trees/Animal Genes : TreeFamSMAD3
Homologs : HomoloGeneSMAD3
Homology/Alignments : Family Browser (UCSC)SMAD3
Gene fusions - Rearrangements
Fusion: TCGASMAD3 15q22.33 DIS3L 15q22.31 BRCA
Fusion: TCGASMAD3 15q22.33 SENP8 15q23 BRCA
Fusion: TCGASMAD3 15q22.33 SLC9A9 3q24 KIRC
Fusion: TCGASMAD3 15q22.33 SMAD6 15q22.31 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerSMAD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD3
dbVarSMAD3
ClinVarSMAD3
1000_GenomesSMAD3 
Exome Variant ServerSMAD3
ExAC (Exome Aggregation Consortium)SMAD3 (select the gene name)
SNP (GeneSNP Utah)SMAD3
SNP : HGBaseSMAD3
Genetic variants : HAPMAPSMAD3
Genomic Variants (DGV)SMAD3 [DGVbeta]
Mutations
ICGC Data PortalSMAD3 
TCGA Data PortalSMAD3 
Broad Tumor PortalSMAD3
OASIS PortalSMAD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMAD3 
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)The Globin Gene Server
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch SMAD3
DgiDB (Drug Gene Interaction Database)SMAD3
DoCM (Curated mutations)SMAD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMAD3 (select a term)
intoGenSMAD3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:67418054-67487533
CONAN: Copy Number AnalysisSMAD3 
Mutations and Diseases : HGMDSMAD3
OMIM603109    613795   
MedgenSMAD3
Genetic Testing Registry SMAD3
NextProtP84022 [Medical]
TSGene4088
GENETestsSMAD3
Huge Navigator SMAD3 [HugePedia]  SMAD3 [HugeCancerGEM]
snp3D : Map Gene to Disease4088
BioCentury BCIQSMAD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4088
Chemical/Pharm GKB GenePA30526
Clinical trialSMAD3
Miscellaneous
canSAR (ICR)SMAD3 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMAD3
GoPubMedSMAD3
iHOPSMAD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 16 18:04:53 CEST 2016

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