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Aliases for SMAD9 Gene

Aliases for SMAD9 Gene

  • SMAD Family Member 9 2 3 4 5
  • MAD Homolog 9 3 4
  • MADH6 3 4
  • MADH9 3 4
  • MAD, Mothers Against Decapentaplegic Homolog 9 (Drosophila) 2
  • Mothers Against Decapentaplegic, Drosophila, Homolog Of, 9 3
  • SMAD, Mothers Against DPP Homolog 9 (Drosophila) 2
  • Mothers Against Decapentaplegic Homolog 9 3
  • SMAD, Mothers Against DPP Homolog 9 3
  • Mothers Against DPP Homolog 9 4
  • SMAD8/9 3
  • SMAD8A 3
  • SMAD8B 3
  • SMAD 9 4
  • SMAD8 3
  • Smad9 4
  • PPH2 3

External Ids for SMAD9 Gene

Previous HGNC Symbols for SMAD9 Gene

  • MADH6
  • MADH9

Previous GeneCards Identifiers for SMAD9 Gene

  • GC13M035221
  • GC13M036320
  • GC13M037418
  • GC13M018230

Summaries for SMAD9 Gene

Entrez Gene Summary for SMAD9 Gene

  • The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

GeneCards Summary for SMAD9 Gene

SMAD9 (SMAD Family Member 9) is a Protein Coding gene. Diseases associated with SMAD9 include Pulmonary Hypertension, Primary, 2 and Heritable Pulmonary Arterial Hypertension. Among its related pathways are DREAM Repression and Dynorphin Expression and TGF-beta signaling pathway (KEGG). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity. An important paralog of this gene is SMAD1.

UniProtKB/Swiss-Prot for SMAD9 Gene

  • Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).

Gene Wiki entry for SMAD9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD9 Gene

Genomics for SMAD9 Gene

Regulatory Elements for SMAD9 Gene

Enhancers for SMAD9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G036918 1.3 FANTOM5 ENCODE 28.2 +0.9 875 3.2 FOXA2 SIN3A ARID4B RAD21 ZNF48 GLIS2 ZNF366 SCRT2 FOS CREM SMAD9 SERTM1 RFXAP SMAD9-IT1
GH13G036997 1.4 ENCODE dbSUPER 9.9 -79.3 -79318 4.6 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 RCOR2 RFXAP SUPT20H EXOSC8 ALG5 SMAD9 CSNK1A1L
GH13G036899 0.4 FANTOM5 1.7 +20.9 20866 0.2 EP300 SMAD9 SERTM1 SMAD9-IT1
GH13G036887 0.5 ENCODE 0.3 +32.8 32767 0.2 MTA2 MLLT1 EGR2 SMAD9 SMAD9-IT1
GH13G036858 0.6 ENCODE 0.2 +62.3 62327 0.1 CTCF PKNOX1 ZNF654 REST RAD21 CEBPA SMC3 RXRB SMAD9-IT1 SMAD9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMAD9 on UCSC Golden Path with GeneCards custom track

Promoters for SMAD9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061329 965 2001 FOXA2 SIN3A ARID4B RAD21 THRB ZNF48 GLIS2 ZNF366 SCRT2 CREM

Genomic Location for SMAD9 Gene

Chromosome:
13
Start:
36,815,914 bp from pter
End:
36,920,765 bp from pter
Size:
104,852 bases
Orientation:
Minus strand

Genomic View for SMAD9 Gene

Genes around SMAD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMAD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMAD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAD9 Gene

Proteins for SMAD9 Gene

  • Protein details for SMAD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15198-SMAD9_HUMAN
    Recommended name:
    Mothers against decapentaplegic homolog 9
    Protein Accession:
    O15198
    Secondary Accessions:
    • A2A2Y6
    • O14989
    • Q5TBA1

    Protein attributes for SMAD9 Gene

    Size:
    467 amino acids
    Molecular mass:
    52493 Da
    Quaternary structure:
    • Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit.

    Alternative splice isoforms for SMAD9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMAD9 Gene

Post-translational modifications for SMAD9 Gene

  • Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
  • Ubiquitination at Lys159
  • Modification sites at PhosphoSitePlus

Other Protein References for SMAD9 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMAD9 (SMAD9)
  • Cloud-Clone Corp. Antibodies for SMAD9
  • Santa Cruz Biotechnology (SCBT) Antibodies for SMAD9

No data available for DME Specific Peptides for SMAD9 Gene

Domains & Families for SMAD9 Gene

Gene Families for SMAD9 Gene

Suggested Antigen Peptide Sequences for SMAD9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15198

UniProtKB/Swiss-Prot:

SMAD9_HUMAN :
  • Belongs to the dwarfin/SMAD family.
Family:
  • Belongs to the dwarfin/SMAD family.
genes like me logo Genes that share domains with SMAD9: view

Function for SMAD9 Gene

Molecular function for SMAD9 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).

Gene Ontology (GO) - Molecular Function for SMAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 23455924
GO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS 19018011
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SMAD9: view
genes like me logo Genes that share phenotypes with SMAD9: view

Human Phenotype Ontology for SMAD9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMAD9 Gene

MGI Knock Outs for SMAD9:

Animal Model Products

  • Taconic Biosciences Mouse Models for SMAD9

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMAD9 Gene

Localization for SMAD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAD9 Gene

Cytoplasm. Nucleus. Note=In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMAD9 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9256479
GO:0005634 nucleus TAS,IEA 19018011
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm ISS,IEA --
genes like me logo Genes that share ontologies with SMAD9: view

Pathways & Interactions for SMAD9 Gene

genes like me logo Genes that share pathways with SMAD9: view

SIGNOR curated interactions for SMAD9 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SMAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with SMAD9: view

Drugs & Compounds for SMAD9 Gene

No Compound Related Data Available

Transcripts for SMAD9 Gene

Unigene Clusters for SMAD9 Gene

SMAD family member 9:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMAD9 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2:

Relevant External Links for SMAD9 Gene

GeneLoc Exon Structure for
SMAD9
ECgene alternative splicing isoforms for
SMAD9

Expression for SMAD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMAD9 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMAD9 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMAD9 Gene:

SMAD9

SOURCE GeneReport for Unigene cluster for SMAD9 Gene:

Hs.123119

mRNA Expression by UniProt/SwissProt for SMAD9 Gene:

O15198-SMAD9_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.

Evidence on tissue expression from TISSUES for SMAD9 Gene

  • Nervous system(4.4)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAD9 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • lung
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with SMAD9: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for SMAD9 Gene

Orthologs for SMAD9 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMAD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMAD9 34 35
  • 99.36 (n)
oppossum
(Monodelphis domestica)
Mammalia SMAD9 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMAD9 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMAD9 34 35
  • 91.12 (n)
dog
(Canis familiaris)
Mammalia SMAD9 34 35
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Smad9 34
  • 87.52 (n)
mouse
(Mus musculus)
Mammalia Smad9 34 16 35
  • 86.98 (n)
chicken
(Gallus gallus)
Aves SMAD9 34 35
  • 81.08 (n)
lizard
(Anolis carolinensis)
Reptilia SMAD9 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smad9 34
  • 77.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69016 34
zebrafish
(Danio rerio)
Actinopterygii smad9 34 35
  • 74.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mad 35
  • 63 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sma-2 34 35
  • 56.72 (n)
Species where no ortholog for SMAD9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMAD9 Gene

ENSEMBL:
Gene Tree for SMAD9 (if available)
TreeFam:
Gene Tree for SMAD9 (if available)

Paralogs for SMAD9 Gene

Paralogs for SMAD9 Gene

(7) SIMAP similar genes for SMAD9 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SMAD9: view

Variants for SMAD9 Gene

Sequence variations from dbSNP and Humsavar for SMAD9 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs397514715 Pathogenic, Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342] 36,879,563(-) TAGTG(A/G)AGAAG reference, missense
rs121918359 Pathogenic 36,872,722(-) CCGTG(A/C/T)ACGGC intron-variant, reference, synonymous-codon, stop-gained
rs397514716 Pathogenic 36,865,660(-) CCTCC(C/T)GAAGT reference, stop-gained
rs113331638 Likely benign 36,879,726(+) GAACC(A/G)CACAG utr-variant-5-prime
rs114000293 Likely benign 36,845,992(+) TGTCA(C/G)TTTGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SMAD9 Gene

Variant ID Type Subtype PubMed ID
esv3303892 CNV mobile element insertion 20981092
esv3443934 CNV insertion 20981092
esv3631788 CNV loss 21293372
esv3631790 CNV loss 21293372
esv3892329 CNV loss 25118596
esv3892330 CNV gain 25118596
nsv1006 CNV insertion 18451855
nsv1070584 CNV deletion 25765185
nsv1145659 CNV deletion 24896259
nsv522336 CNV gain 19592680
nsv64081 CNV deletion 16902084

Variation tolerance for SMAD9 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMAD9 Gene

Human Gene Mutation Database (HGMD)
SMAD9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMAD9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD9 Gene

Disorders for SMAD9 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SMAD9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary hypertension, primary, 2
  • primary pulmonary hypertension 2
heritable pulmonary arterial hypertension
  • familial pulmonary arterial hypertension
hemorrhoid
  • hemorrhoidal disease
polyposis, juvenile intestinal
  • juvenile polyposis syndrome, infantile form
pulmonary hypertension
  • primary pulmonary hypertension
- elite association - COSMIC cancer census association via MalaCards
Search SMAD9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SMAD9_HUMAN
  • Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269 PubMed:21898662}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for SMAD9

Genetic Association Database (GAD)
SMAD9
Human Genome Epidemiology (HuGE) Navigator
SMAD9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMAD9
genes like me logo Genes that share disorders with SMAD9: view

No data available for Genatlas for SMAD9 Gene

Publications for SMAD9 Gene

  1. Cloning and characterization of a novel member of the human Mad gene family (MADH6). (PMID: 9205116) Watanabe T.K. … Takahashi E. (Genomics 1997) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. TGF-beta signaling by Smad proteins. (PMID: 10708949) Miyazono K. (Cytokine Growth Factor Rev. 2000) 3 4 64
  5. The Smad pathway. (PMID: 10708948) Wrana J.L. … Attisano L. (Cytokine Growth Factor Rev. 2000) 3 4 64

Products for SMAD9 Gene

Sources for SMAD9 Gene

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