Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMAD9 (SMAD family member 9)

Identity

Other namesMADH6
MADH9
PPH2
SMAD8
SMAD8A
SMAD8B
HGNC (Hugo) SMAD9
LocusID (NCBI) 4093
Location 13q13.3
Location_base_pair Starts at 37418968 and ends at 37494409 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

 

External links

Nomenclature
HGNC (Hugo)SMAD9   6774
Cards
Entrez_Gene (NCBI)SMAD9  4093  SMAD family member 9
GeneCards (Weizmann)SMAD9
Ensembl (Hinxton)ENSG00000120693 [Gene_View]  chr13:37418968-37494409 [Contig_View]  SMAD9 [Vega]
ICGC DataPortalENSG00000120693
cBioPortalSMAD9
AceView (NCBI)SMAD9
Genatlas (Paris)SMAD9
WikiGenes4093
SOURCE (Princeton)NM_001127217 NM_005905
Genomic and cartography
GoldenPath (UCSC)SMAD9  -  13q13.3   chr13:37418968-37494409 -  13q13.3   [Description]    (hg19-Feb_2009)
EnsemblSMAD9 - 13q13.3 [CytoView]
Mapping of homologs : NCBISMAD9 [Mapview]
OMIM603295   615342   
Gene and transcription
Genbank (Entrez)AK311686 AK314920 AW191604 BC011559 BC067766
RefSeq transcript (Entrez)NM_001127217 NM_005905
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_016963 NT_024524 NW_001838073 NW_004929388
Consensus coding sequences : CCDS (NCBI)SMAD9
Cluster EST : UnigeneHs.123119 [ NCBI ]
CGAP (NCI)Hs.123119
Alternative Splicing : Fast-db (Paris)GSHG0008423
Alternative Splicing GalleryENSG00000120693
Gene ExpressionSMAD9 [ NCBI-GEO ]     SMAD9 [ SEEK ]   SMAD9 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15198 (Uniprot)
NextProtO15198  [Medical]
With graphics : InterProO15198
Splice isoforms : SwissVarO15198 (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 : CluSTrO15198
Domain families : Pfam (Sanger)MH1 (PF03165)    MH2 (PF03166)   
Domain families : Pfam (NCBI)pfam03165    pfam03166   
Domain families : Smart (EMBL)DWA (SM00523)  DWB (SM00524)  
DMDM Disease mutations4093
Blocks (Seattle)O15198
Human Protein AtlasENSG00000120693 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO15198
IPIIPI00005223   IPI00216093   
Protein Interaction databases
DIP (DOE-UCLA)O15198
IntAct (EBI)O15198
FunCoupENSG00000120693
BioGRIDSMAD9
InParanoidO15198
Interologous Interaction database O15198
IntegromeDBSMAD9
STRING (EMBL)SMAD9
Ontologies - Pathways
Ontology : AmiGOureteric bud development  response to hypoxia  Mullerian duct regression  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  intracellular  nucleus  nucleoplasm  transcription factor complex  cytosol  transcription, DNA-templated  protein phosphorylation  transforming growth factor beta receptor signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  midbrain development  hindbrain development  intracellular signal transduction  positive regulation of cell differentiation  positive regulation of transcription, DNA-templated  metal ion binding  cartilage development  bone development  cellular response to organic cyclic compound  
Ontology : EGO-EBIureteric bud development  response to hypoxia  Mullerian duct regression  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  intracellular  nucleus  nucleoplasm  transcription factor complex  cytosol  transcription, DNA-templated  protein phosphorylation  transforming growth factor beta receptor signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  midbrain development  hindbrain development  intracellular signal transduction  positive regulation of cell differentiation  positive regulation of transcription, DNA-templated  metal ion binding  cartilage development  bone development  cellular response to organic cyclic compound  
Pathways : KEGGTGF-beta signaling pathway   
Protein Interaction DatabaseSMAD9
Wikipedia pathwaysSMAD9
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMAD9
snp3D : Map Gene to Disease4093
SNP (GeneSNP Utah)SMAD9
SNP : HGBaseSMAD9
Genetic variants : HAPMAPSMAD9
Exome VariantSMAD9
1000_GenomesSMAD9 
ICGC programENSG00000120693 
Somatic Mutations in Cancer : COSMICSMAD9 
CONAN: Copy Number AnalysisSMAD9 
Mutations and Diseases : HGMDSMAD9
Mutations and Diseases : intOGenSMAD9
Genomic VariantsSMAD9  SMAD9 [DGVbeta]
dbVarSMAD9
ClinVarSMAD9
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM603295    615342   
MedgenSMAD9
GENETestsSMAD9
Disease Genetic AssociationSMAD9
Huge Navigator SMAD9 [HugePedia]  SMAD9 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSMAD9
Homology/Alignments : Family Browser (UCSC)SMAD9
Phylogenetic Trees/Animal Genes : TreeFamSMAD9
Chemical/Protein Interactions : CTD4093
Chemical/Pharm GKB GenePA30531
Clinical trialSMAD9
Cancer Resource (Charite)ENSG00000120693
Other databases
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
CoreMineSMAD9
iHOPSMAD9
OncoSearchSMAD9
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 19:19:09 CEST 2014

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