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SMAD3 (SMAD family member 3)

Identity

Other namesHSPC193
HsT17436
JV15-2
LDS1C
LDS3
MADH3
HGNC (Hugo) SMAD3
LocusID (NCBI) 4088
Location 15q22.33
Location_base_pair Starts at 67418054 and ends at 67487533 bp from pter ( according to hg19-Feb_2009)
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)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)SMAD3   6769
Cards
Entrez_Gene (NCBI)SMAD3  4088  SMAD family member 3
GeneCards (Weizmann)SMAD3
Ensembl (Hinxton)ENSG00000166949 [Gene_View]  chr15:67418054-67487533 [Contig_View]  SMAD3 [Vega]
ICGC DataPortalENSG00000166949
cBioPortalSMAD3
AceView (NCBI)SMAD3
Genatlas (Paris)SMAD3
WikiGenes4088
SOURCE (Princeton)NM_001145102 NM_001145103 NM_001145104 NM_005902
Genomic and cartography
GoldenPath (UCSC)SMAD3  -  15q22.33   chr15:67418054-67487533 +  15q22.33   [Description]    (hg19-Feb_2009)
EnsemblSMAD3 - 15q22.33 [CytoView]
Mapping of homologs : NCBISMAD3 [Mapview]
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)AC_000147 NC_000015 NC_018926 NG_011990 NT_010194 NW_001838218 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 [ SEEK ]   SMAD3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP84022 (Uniprot)
NextProtP84022  [Medical]
With graphics : InterProP84022
Splice isoforms : SwissVarP84022 (Swissvar)
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin [organisation]   MAD_homology1_Dwarfin-type [organisation]   MAD_homology_MH1 [organisation]   SMAD_dom-like [organisation]   SMAD_dom_Dwarfin-type [organisation]   SMAD_FHA_domain [organisation]  
Related proteins : CluSTrP84022
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)P84022
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   
Human Protein AtlasENSG00000166949 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP84022
HPRD04380
IPIIPI00024305   IPI00383289   IPI00922059   IPI00922698   IPI00922049   
Protein Interaction databases
DIP (DOE-UCLA)P84022
IntAct (EBI)P84022
FunCoupENSG00000166949
BioGRIDSMAD3
InParanoidP84022
Interologous Interaction database P84022
IntegromeDBSMAD3
STRING (EMBL)SMAD3
Ontologies - Pathways
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  core promoter proximal region sequence-specific DNA binding  protein binding transcription factor activity  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  double-stranded DNA binding  sequence-specific DNA binding transcription factor activity  sequence-specific DNA binding transcription factor activity  transforming growth factor beta receptor binding  protein binding  collagen binding  nucleus  nuclear inner membrane  nucleoplasm  transcription factor complex  cytoplasm  cytosol  plasma membrane  transcription, DNA-templated  transcription initiation 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  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  intracellular signal transduction  nodal signaling pathway  wound healing  T cell activation  negative regulation of protein catabolic process  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 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  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  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 gene expression involved in extracellular matrix organization  
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  core promoter proximal region sequence-specific DNA binding  protein binding transcription factor activity  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  double-stranded DNA binding  sequence-specific DNA binding transcription factor activity  sequence-specific DNA binding transcription factor activity  transforming growth factor beta receptor binding  protein binding  collagen binding  nucleus  nuclear inner membrane  nucleoplasm  transcription factor complex  cytoplasm  cytosol  plasma membrane  transcription, DNA-templated  transcription initiation 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  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  intracellular signal transduction  nodal signaling pathway  wound healing  T cell activation  negative regulation of protein catabolic process  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 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  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  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 gene expression involved in extracellular matrix organization  
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)   
Protein Interaction DatabaseSMAD3
Wikipedia pathwaysSMAD3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMAD3
snp3D : Map Gene to Disease4088
SNP (GeneSNP Utah)SMAD3
SNP : HGBaseSMAD3
Genetic variants : HAPMAPSMAD3
Exome VariantSMAD3
1000_GenomesSMAD3 
ICGC programENSG00000166949 
Somatic Mutations in Cancer : COSMICSMAD3 
CONAN: Copy Number AnalysisSMAD3 
Mutations and Diseases : HGMDSMAD3
Mutations and Diseases : intOGenSMAD3
Genomic VariantsSMAD3  SMAD3 [DGVbeta]
dbVarSMAD3
ClinVarSMAD3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM603109    613795   
MedgenSMAD3
GENETestsSMAD3
Disease Genetic AssociationSMAD3
Huge Navigator SMAD3 [HugePedia]  SMAD3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSMAD3
Homology/Alignments : Family Browser (UCSC)SMAD3
Phylogenetic Trees/Animal Genes : TreeFamSMAD3
Chemical/Protein Interactions : CTD4088
Chemical/Pharm GKB GenePA30526
Clinical trialSMAD3
Cancer Resource (Charite)ENSG00000166949
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineSMAD3
iHOPSMAD3
OncoSearchSMAD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:19:08 CEST 2014

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