ENSG00000120693


Homo sapiens

Features
Gene ID: ENSG00000120693
  
Biological name :SMAD9
  
Synonyms : O15198 / SMAD9 / SMAD family member 9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: -1
Band: q13.3
Gene start: 36844831
Gene end: 36920765
  
Corresponding Affymetrix probe sets: 206320_s_at (Human Genome U133 Plus 2.0 Array)   227719_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000382216
Ensembl peptide - ENSP00000239885
Ensembl peptide - ENSP00000369154
NCBI entrez gene - 4093     See in Manteia.
OMIM - 603295
RefSeq - XM_006719827
RefSeq - NM_001127217
RefSeq - NM_005905
RefSeq - XM_005266401
RefSeq - XM_005266403
RefSeq Peptide - NP_001120689
RefSeq Peptide - NP_005896
swissprot - O15198
swissprot - A0A024RDR3
Ensembl - ENSG00000120693
  
Related genetic diseases (OMIM): 615342 - Pulmonary hypertension, primary, 2, 615342

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 alg5ENSDARG00000021938Danio rerio
 SMAD9ENSGALG00000017050Gallus gallus
 Smad9ENSMUSG00000027796Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SMAD1 / Q15797 / SMAD family member 1ENSG0000017036581
SMAD5 / Q99717 / SMAD family member 5ENSG0000011365878
SMAD2 / Q15796 / SMAD family member 2ENSG0000017538760
SMAD3 / P84022 / SMAD family member 3ENSG0000016694959
SMAD4 / Q13485 / SMAD family member 4ENSG0000014164639
SMAD6 / O43541 / SMAD family member 6ENSG0000013783427
SMAD7 / O15105 / SMAD family member 7ENSG0000010166525


Protein motifs (from Interpro)
Interpro ID Name
 IPR001132  SMAD domain, Dwarfin-type
 IPR003619  MAD homology 1, Dwarfin-type
 IPR008984  SMAD/FHA domain superfamily
 IPR013019  MAD homology, MH1
 IPR013790  Dwarfin
 IPR017855  SMAD-like domain superfamily
 IPR036578  SMAD MH1 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030509 BMP signaling pathway IEA
 biological_processGO:0030901 midbrain development IEA
 biological_processGO:0030902 hindbrain development IEA
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060395 SMAD protein signal transduction IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071773 cellular response to BMP stimulus NAS
 biological_processGO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus TAS
 cellular_componentGO:0005622 intracellular TAS
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0071141 SMAD protein complex NAS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0002092 Pulmonary hypertension 
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 HP:0003676 Progressive disorder 
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 HP:0003829 Incomplete penetrance 
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 HP:0005317 Increased pulmonary vascular resistance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000121989 ACVR2A / P27037 / activin A receptor type 2A  / complex / reaction
 ENSG00000138696 BMPR1B / O00238 / bone morphogenetic protein receptor type 1B  / reaction / complex
 ENSG00000101665 SMAD7 / O15105 / SMAD family member 7  / reaction / complex
 ENSG00000137834 SMAD6 / O43541 / SMAD family member 6  / reaction / complex
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / reaction / complex
 ENSG00000141646 SMAD4 / Q13485 / SMAD family member 4  / complex / reaction
 ENSG00000039319 Q7Z3T8 / ZFYVE16 / zinc finger FYVE-type containing 16  / reaction / complex
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / reaction / complex
 ENSG00000120693 SMAD9 / O15198 / SMAD family member 9  / complex / reaction
 ENSG00000204217 BMPR2 / Q13873 / bone morphogenetic protein receptor type 2  / reaction / complex
 ENSG00000107779 BMPR1A / P36894 / bone morphogenetic protein receptor type 1A  / reaction / complex
 ENSG00000125845 BMP2 / P12643 / bone morphogenetic protein 2  / reaction / complex
 ENSG00000157933 SKI / P12755 / SKI proto-oncogene  / complex / reaction
 ENSG00000113658 SMAD5 / Q99717 / SMAD family member 5  / complex / reaction






 

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