| Nomenclature |
|---|
| HGNC (Hugo) | SMAD9 6774 |
| LRG (Locus Reference Genomic) | LRG_703 |
| Cards |
|---|
| Entrez_Gene (NCBI) | SMAD9 4093 SMAD family member 9 |
| Aliases | MADH6; MADH9; PPH2; SMAD8; |
| SMAD8/9; SMAD8A; SMAD8B |
| GeneCards (Weizmann) | SMAD9 |
| Ensembl hg19 (Hinxton) | ENSG00000120693 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000120693 [Gene_View] chr13:36844831-36920272 [Contig_View] SMAD9 [Vega] |
| ICGC DataPortal | ENSG00000120693 |
| TCGA cBioPortal | SMAD9 |
| AceView (NCBI) | SMAD9 |
| Genatlas (Paris) | SMAD9 |
| WikiGenes | 4093 |
| 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) |
| Ensembl | SMAD9 - 13q13.3 [CytoView hg19] SMAD9 - 13q13.3 [CytoView hg38] |
| Mapping of homologs : NCBI | SMAD9 [Mapview hg19] SMAD9 [Mapview hg38] |
| OMIM | 603295 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 : Unigene | Hs.123119 [ NCBI ] |
| CGAP (NCI) | Hs.123119 |
| Alternative Splicing Gallery | ENSG00000120693 |
| Gene Expression | SMAD9 [ 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] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 4093 |
| GTEX Portal (Tissue expression) | SMAD9 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | O15198 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | O15198 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | O15198 |
| Splice isoforms : SwissVar | O15198 |
| PhosPhoSitePlus | O15198 |
| 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 mutations | 4093 |
| Blocks (Seattle) | SMAD9 |
| Superfamily | O15198 |
| Human Protein Atlas | ENSG00000120693 |
| Peptide Atlas | O15198 |
| IPI | IPI00005223 IPI00216093 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | O15198 |
| IntAct (EBI) | O15198 |
| FunCoup | ENSG00000120693 |
| BioGRID | SMAD9 |
| STRING (EMBL) | SMAD9 |
| ZODIAC | SMAD9 |
| Ontologies - Pathways |
|---|
| QuickGO | O15198 |
| Ontology : AmiGO | ureteric bud development DNA binding transcription factor activity, sequence-specific DNA binding 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-EBI | ureteric bud development DNA binding transcription factor activity, sequence-specific DNA binding 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 : KEGG | TGF-beta signaling pathway |
| NDEx Network | SMAD9 |
| Atlas of Cancer Signalling Network | SMAD9 |
| Wikipedia pathways | SMAD9 |
| Orthology - Evolution |
|---|
| OrthoDB | 4093 |
| GeneTree (enSembl) | ENSG00000120693 |
| Phylogenetic Trees/Animal Genes : TreeFam | SMAD9 |
| HOVERGEN | O15198 |
| HOGENOM | O15198 |
| Homologs : HomoloGene | SMAD9 |
| Homology/Alignments : Family Browser (UCSC) | SMAD9 |
| Gene fusions - Rearrangements |
|---|
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SMAD9 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SMAD9 |
| dbVar | SMAD9 |
| ClinVar | SMAD9 |
| 1000_Genomes | SMAD9 |
| Exome Variant Server | SMAD9 |
| ExAC (Exome Aggregation Consortium) | SMAD9 (select the gene name) |
| Genetic variants : HAPMAP | 4093 |
| Genomic Variants (DGV) | SMAD9 [DGVbeta] |
| DECIPHER | SMAD9 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SMAD9 |
| Mutations |
|---|
| ICGC Data Portal | SMAD9 |
| TCGA Data Portal | SMAD9 |
| Broad Tumor Portal | SMAD9 |
| OASIS Portal | SMAD9 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | SMAD9 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | SMAD9 |
| 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 |
| BioMuta | search 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) |
| intoGen | SMAD9 |
| Cancer3D | SMAD9(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 603295 615342 |
| Orphanet | 20328 |
| Medgen | SMAD9 |
| Genetic Testing Registry | SMAD9
|
| NextProt | O15198 [Medical] |
| TSGene | 4093 |
| GENETests | SMAD9 |
| Target Validation | SMAD9 |
| Huge Navigator |
SMAD9 [HugePedia] |
| snp3D : Map Gene to Disease | 4093 |
| BioCentury BCIQ | SMAD9 |
| ClinGen | SMAD9 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 4093 |
| Chemical/Pharm GKB Gene | PA30531 |
| Clinical trial | SMAD9 |
| Miscellaneous |
|---|
| canSAR (ICR) | SMAD9 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 42 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SMAD9 |
| EVEX | SMAD9 |
| GoPubMed | SMAD9 |
| iHOP | SMAD9 |
