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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
  • 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 Signaling pathways regulating pluripotency of stem cells 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SMAD9 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SMAD9 Gene at MOPED

Post-translational modifications for SMAD9 Gene

  • Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
  • Ubiquitination at Lys 159
  • 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

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 :
  • Contains 1 MH1 (MAD homology 1) domain.
  • Belongs to the dwarfin/SMAD family.
Domain:
  • Contains 1 MH1 (MAD homology 1) domain.
  • Contains 1 MH2 (MAD homology 2) domain.
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:0005515 protein binding IEA,IPI 23455924
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

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
Jensen Localization Image for SMAD9 Gene COMPARTMENTS Subcellular localization image for SMAD9 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SMAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol TAS --
GO:0071141 SMAD protein complex NAS 14687659
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

Pathways by source for SMAD9 Gene

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:

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 for SMAD9 Gene

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



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.
genes like me logo Genes that share expression patterns with SMAD9: view

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia SMAD9 35
  • 91.12 (n)
  • 97.71 (a)
SMAD9 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMAD9 35
  • 90.51 (n)
  • 96.15 (a)
SMAD9 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smad9 35
  • 86.98 (n)
  • 96.74 (a)
Smad9 36
  • 97 (a)
OneToOne
Smad9 16
chimpanzee
(Pan troglodytes)
Mammalia SMAD9 35
  • 99.36 (n)
  • 99.79 (a)
SMAD9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smad9 35
  • 87.52 (n)
  • 96.05 (a)
oppossum
(Monodelphis domestica)
Mammalia SMAD9 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMAD9 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMAD9 35
  • 81.08 (n)
  • 90.58 (a)
SMAD9 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAD9 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smad9 35
  • 77.28 (n)
  • 87.1 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69016 35
zebrafish
(Danio rerio)
Actinopterygii smad9 35
  • 74.96 (n)
  • 83.26 (a)
smad9 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mad 36
  • 63 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sma-2 35
  • 56.72 (n)
  • 59.7 (a)
sma-2 36
  • 56 (a)
OneToMany
Species with no ortholog for SMAD9:
  • 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
VAR_066871 Pulmonary hypertension, primary, 2 (PPH2)
rs477288 -- 36,911,719(+) ttttt(A/C)ttttt intron-variant
rs477432 -- 36,879,911(+) TAATC(A/G)GAGTA intron-variant, upstream-variant-2KB
rs478811 -- 36,919,539(+) TCGGC(A/G)CTGGC intron-variant
rs604279 -- 36,897,117(+) TACAG(C/G)CCTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522336 CNV Gain 19592680
nsv64081 CNV Loss 16902084
nsv1006 CNV Insertion 18451855
esv268171 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
SMAD9
Human Gene Mutation Database (HGMD)
SMAD9

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

Disorders for SMAD9 Gene

MalaCards: The human disease database

(4) 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 primary pulmonary hypertension
pulmonary hypertension
  • primary pulmonary hypertension
polyposis, juvenile intestinal
  • juvenile polyposis syndrome, infantile form
- 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 67
  2. Smad8B, a Smad8 splice variant lacking the SSXS site that inhibits Smad8-mediated signalling. (PMID: 10583507) Nishita M. … Shibuya H. (Genes Cells 1999) 3 23
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  4. Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas. (PMID: 26122142) Ngeow J. … Eng C. (Gastroenterology 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SMAD9 Gene

Sources for SMAD9 Gene

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