Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SMAD9 (SMAD family member 9)

Identity

Alias_namesMADH6
MADH9
MAD, mothers against decapentaplegic homolog 9 (Drosophila)
SMAD, mothers against DPP homolog 9 (Drosophila)
Alias_symbol (synonym)SMAD8
SMAD8/9
Other aliasPPH2
SMAD8A
SMAD8B
HGNC (Hugo) SMAD9
LocusID (NCBI) 4093
Atlas_Id 50221
Location 13q13.3  [Link to chromosome band 13q13]
Location_base_pair Starts at 36844831 and ends at 36920272 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GTF2F2 (13q14.12) / SMAD9 (13q13.3)

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
LRG (Locus Reference Genomic)LRG_703
Cards
Entrez_Gene (NCBI)SMAD9  4093  SMAD family member 9
AliasesMADH6; MADH9; PPH2; SMAD8; 
SMAD8/9; SMAD8A; SMAD8B
GeneCards (Weizmann)SMAD9
Ensembl hg19 (Hinxton)ENSG00000120693 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120693 [Gene_View]  ENSG00000120693 [Sequence]  chr13:36844831-36920272 [Contig_View]  SMAD9 [Vega]
ICGC DataPortalENSG00000120693
TCGA cBioPortalSMAD9
AceView (NCBI)SMAD9
Genatlas (Paris)SMAD9
WikiGenes4093
SOURCE (Princeton)SMAD9
Genetics Home Reference (NIH)SMAD9
Genomic and cartography
GoldenPath hg38 (UCSC)SMAD9  -     chr13:36844831-36920272 -  13q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMAD9  -     13q13.3   [Description]    (hg19-Feb_2009)
EnsemblSMAD9 - 13q13.3 [CytoView hg19]  SMAD9 - 13q13.3 [CytoView hg38]
Mapping of homologs : NCBISMAD9 [Mapview hg19]  SMAD9 [Mapview hg38]
OMIM603295   615342   
Gene and transcription
Genbank (Entrez)AK311686 AK314920 AW191604 BC011559 BC067766
RefSeq transcript (Entrez)NM_001127217 NM_005905
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMAD9
Cluster EST : UnigeneHs.123119 [ NCBI ]
CGAP (NCI)Hs.123119
Alternative Splicing GalleryENSG00000120693
Gene ExpressionSMAD9 [ NCBI-GEO ]   SMAD9 [ EBI - ARRAY_EXPRESS ]   SMAD9 [ SEEK ]   SMAD9 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4093
GTEX Portal (Tissue expression)SMAD9
Human Protein AtlasENSG00000120693-SMAD9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15198   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15198  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15198
Splice isoforms : SwissVarO15198
PhosPhoSitePlusO15198
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)SMAD9
DMDM Disease mutations4093
Blocks (Seattle)SMAD9
SuperfamilyO15198
Human Protein Atlas [tissue]ENSG00000120693-SMAD9 [tissue]
Peptide AtlasO15198
IPIIPI00005223   IPI00216093   
Protein Interaction databases
DIP (DOE-UCLA)O15198
IntAct (EBI)O15198
FunCoupENSG00000120693
BioGRIDSMAD9
STRING (EMBL)SMAD9
ZODIACSMAD9
Ontologies - Pathways
QuickGOO15198
Ontology : AmiGOureteric bud development  DNA binding  DNA binding transcription factor activity  protein binding  intracellular  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  transcription, DNA-templated  protein phosphorylation  transforming growth factor beta receptor signaling pathway  BMP signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  midbrain development  hindbrain development  metal ion binding  cartilage development  bone development  SMAD protein signal transduction  SMAD protein signal transduction  SMAD protein complex  cellular response to organic cyclic compound  cellular response to BMP stimulus  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  
Ontology : EGO-EBIureteric bud development  DNA binding  DNA binding transcription factor activity  protein binding  intracellular  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  cytosol  cytosol  transcription, DNA-templated  protein phosphorylation  transforming growth factor beta receptor signaling pathway  BMP signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  midbrain development  hindbrain development  metal ion binding  cartilage development  bone development  SMAD protein signal transduction  SMAD protein signal transduction  SMAD protein complex  cellular response to organic cyclic compound  cellular response to BMP stimulus  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  
Pathways : KEGGTGF-beta signaling pathway   
NDEx NetworkSMAD9
Atlas of Cancer Signalling NetworkSMAD9
Wikipedia pathwaysSMAD9
Orthology - Evolution
OrthoDB4093
GeneTree (enSembl)ENSG00000120693
Phylogenetic Trees/Animal Genes : TreeFamSMAD9
HOVERGENO15198
HOGENOMO15198
Homologs : HomoloGeneSMAD9
Homology/Alignments : Family Browser (UCSC)SMAD9
Gene fusions - Rearrangements
Fusion : QuiverSMAD9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD9
dbVarSMAD9
ClinVarSMAD9
1000_GenomesSMAD9 
Exome Variant ServerSMAD9
ExAC (Exome Aggregation Consortium)ENSG00000120693
GNOMAD BrowserENSG00000120693
Genetic variants : HAPMAP4093
Genomic Variants (DGV)SMAD9 [DGVbeta]
DECIPHERSMAD9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMAD9 
Mutations
ICGC Data PortalSMAD9 
TCGA Data PortalSMAD9 
Broad Tumor PortalSMAD9
OASIS PortalSMAD9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMAD9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMAD9
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SMAD9
DgiDB (Drug Gene Interaction Database)SMAD9
DoCM (Curated mutations)SMAD9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMAD9 (select a term)
intoGenSMAD9
Cancer3DSMAD9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603295    615342   
Orphanet20328   
DisGeNETSMAD9
MedgenSMAD9
Genetic Testing Registry SMAD9
NextProtO15198 [Medical]
TSGene4093
GENETestsSMAD9
Target ValidationSMAD9
Huge Navigator SMAD9 [HugePedia]
snp3D : Map Gene to Disease4093
BioCentury BCIQSMAD9
ClinGenSMAD9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4093
Chemical/Pharm GKB GenePA30531
Clinical trialSMAD9
Miscellaneous
canSAR (ICR)SMAD9 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMAD9
EVEXSMAD9
GoPubMedSMAD9
iHOPSMAD9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jun 22 16:50:41 CEST 2018
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