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Aliases for SMAD5 Gene

Aliases for SMAD5 Gene

  • SMAD Family Member 5 2 3 4 5
  • MADH5 3 4
  • JV5-1 3 4
  • MAD, Mothers Against Decapentaplegic Homolog 5 (Drosophila) 2
  • Mothers Against Decapentaplegic, Drosophila, Homolog Of, 5 3
  • SMAD, Mothers Against DPP Homolog 5 (Drosophila) 2
  • MAD, Mothers Against Decapentaplegic Homolog 5 3
  • Mothers Against Decapentaplegic Homolog 5 3
  • SMAD, Mothers Against DPP Homolog 5 3
  • SMA- And MAD-Related Protein 5 3
  • Mothers Against DPP Homolog 5 4
  • MAD Homolog 5 4
  • SMAD 5 4
  • HSmad5 4
  • Smad5 4
  • DWFC 3

External Ids for SMAD5 Gene

Previous HGNC Symbols for SMAD5 Gene

  • MADH5

Previous GeneCards Identifiers for SMAD5 Gene

  • GC05P135545
  • GC05P135496
  • GC05P130657
  • GC05P135470

Summaries for SMAD5 Gene

Entrez Gene Summary for SMAD5 Gene

  • The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for SMAD5 Gene

SMAD5 (SMAD Family Member 5) is a Protein Coding gene. Diseases associated with SMAD5 include Deafness, Autosomal Dominant 52. Among its related pathways are TGF-beta signaling pathway (KEGG) and ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is SMAD1.

UniProtKB/Swiss-Prot for SMAD5 Gene

  • Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD).

Gene Wiki entry for SMAD5 Gene

Additional gene information for SMAD5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD5 Gene

Genomics for SMAD5 Gene

GeneHancer (GH) Regulatory Elements for SMAD5 Gene

Promoters and enhancers for SMAD5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J136131 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 682.4 +0.8 778 3.3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 SMAD5 ENSG00000274934 ENSG00000275646 ENSG00000277524 SMAD5-AS1 SMIM32 GC05M136134 GC05M136114
GH05J135482 Enhancer 1.2 ENCODE dbSUPER 62.2 -650.5 -650476 0.6 HDGF FOXA2 MLX ARID4B DMAP1 GLI4 ZNF48 ETS1 GATA2 ZNF416 SMAD5 DDX46 ENSG00000250167 NEUROG1 CXCL14 TGFBI C5orf66 ENSG00000254239 TIFAB
GH05J135388 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.9 -737.6 -737627 12.8 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 H2AFY DDX46 ENSG00000270021 SMAD5 C5orf66 NEUROG1 LOC105379188 ENSG00000248753 ENSG00000270892 ENSG00000253927
GH05J136079 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 26.2 -52.0 -51988 1.7 PKNOX1 ATF1 ARNT IRF4 BRCA1 NCOA2 YY1 GTF3C2 POLR2B GATA2 VTRNA2-1 GC05M136082 ENSG00000278815 SMAD5 LECT2 SMAD5-AS1 ENSG00000277859
GH05J135137 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.9 -992.8 -992803 5.9 PKNOX1 FOXA2 ARNT BRCA1 YY1 GLIS2 FOS ATF7 DEK SP5 SMAD5 PITX1 DDX46 CATSPER3 LOC105379188 ENSG00000248753 C5orf66 C5orf66-AS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMAD5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMAD5 gene promoter:
  • IRF-7A
  • FOXO4
  • Nkx6-1
  • Ik-2
  • FOXD3
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)

Genomic Locations for SMAD5 Gene

Genomic Locations for SMAD5 Gene
55,903 bases
Plus strand
55,902 bases
Plus strand

Genomic View for SMAD5 Gene

Genes around SMAD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMAD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMAD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAD5 Gene

Proteins for SMAD5 Gene

  • Protein details for SMAD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mothers against decapentaplegic homolog 5
    Protein Accession:
    Secondary Accessions:
    • O14688
    • Q15798
    • Q9UQA1

    Protein attributes for SMAD5 Gene

    465 amino acids
    Molecular mass:
    52258 Da
    Quaternary structure:
    • May form trimers with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit and SMURF1. Interacts with SUV39H1 and SUV39H2. Interacts (via MH2 domain) with LEMD3. Interacts with WWP1. Interacts with TMEM119 (By similarity). Interacts with ZNF8 (PubMed:12370310). Interacts with RANBP3L (PubMed:25755279).

neXtProt entry for SMAD5 Gene

Post-translational modifications for SMAD5 Gene

  • Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
  • Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SMAD5 Gene

Domains & Families for SMAD5 Gene

Gene Families for SMAD5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for SMAD5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dwarfin/SMAD family.
  • Belongs to the dwarfin/SMAD family.
genes like me logo Genes that share domains with SMAD5: view

Function for SMAD5 Gene

Molecular function for SMAD5 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD).

Phenotypes From GWAS Catalog for SMAD5 Gene

Gene Ontology (GO) - Molecular Function for SMAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with SMAD5: view
genes like me logo Genes that share phenotypes with SMAD5: view

Animal Models for SMAD5 Gene

MGI Knock Outs for SMAD5:

Animal Model Products

CRISPR Products

miRNA for SMAD5 Gene

miRTarBase miRNAs that target SMAD5

Clone Products

  • Addgene plasmids for SMAD5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMAD5 Gene

Localization for SMAD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAD5 Gene

Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4.

Subcellular locations from

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 SMAD5 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 9759503
GO:0005634 nucleus TAS 19018011
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with SMAD5: view

Pathways & Interactions for SMAD5 Gene

genes like me logo Genes that share pathways with SMAD5: view

SIGNOR curated interactions for SMAD5 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SMAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001503 ossification IEA --
GO:0001657 ureteric bud development IEA --
GO:0001880 Mullerian duct regression IEA --
GO:0002051 osteoblast fate commitment IEA --
genes like me logo Genes that share ontologies with SMAD5: view

Drugs & Compounds for SMAD5 Gene

(2) Drugs for SMAD5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SMAD5: view

Transcripts for SMAD5 Gene

Unigene Clusters for SMAD5 Gene

SMAD family member 5:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for SMAD5

Alternative Splicing Database (ASD) splice patterns (SP) for SMAD5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: -
SP3: - - - - - - - - - -
SP4: -
SP5: -
SP7: - -

Relevant External Links for SMAD5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SMAD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMAD5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMAD5 Gene

This gene is overexpressed in Fetal heart (23.5), Ovary (21.3), Placenta (8.2), and Colon (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMAD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SMAD5 Gene:


SOURCE GeneReport for Unigene cluster for SMAD5 Gene:


mRNA Expression by UniProt/SwissProt for SMAD5 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SMAD5 Gene

  • Nervous system(3.6)
  • Muscle(2.4)
  • Heart(2.2)
  • Liver(2.2)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with SMAD5: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAD5 Gene

Orthologs for SMAD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMAD5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SMAD5 33
  • 100 (n)
(Monodelphis domestica)
Mammalia SMAD5 34
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia SMAD5 34
  • 97 (a)
(Bos Taurus)
Mammalia SMAD5 34 33
  • 95.77 (n)
(Canis familiaris)
Mammalia SMAD5 34 33
  • 95.63 (n)
(Mus musculus)
Mammalia Smad5 16 34 33
  • 91.68 (n)
(Rattus norvegicus)
Mammalia Smad5 33
  • 89.32 (n)
(Gallus gallus)
Aves SMAD5 34 33
  • 85.52 (n)
(Anolis carolinensis)
Reptilia SMAD5 34
  • 90 (a)
(Danio rerio)
Actinopterygii smad5 34 33
  • 77.14 (n)
madh5 33
fruit fly
(Drosophila melanogaster)
Insecta Mad 34
  • 64 (a)
(Caenorhabditis elegans)
Secernentea sma-2 34
  • 56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.3946 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3946 33
Species where no ortholog for SMAD5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SMAD5 Gene

Gene Tree for SMAD5 (if available)
Gene Tree for SMAD5 (if available)
Evolutionary constrained regions (ECRs) for SMAD5: view image

Paralogs for SMAD5 Gene

Paralogs for SMAD5 Gene

(9) SIMAP similar genes for SMAD5 Gene using alignment to 7 proteins:

  • D6R9D4_HUMAN
genes like me logo Genes that share paralogs with SMAD5: view

Variants for SMAD5 Gene

Sequence variations from dbSNP and Humsavar for SMAD5 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000141699 -- 136,147,020(+) T/C intron_variant
rs1000155697 -- 136,177,953(+) G/A 3_prime_UTR_variant
rs1000191522 -- 136,162,788(+) A/G intron_variant
rs1000205842 -- 136,131,772(+) T/G upstream_transcript_variant
rs1000215877 -- 136,173,670(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SMAD5 Gene

Variant ID Type Subtype PubMed ID
esv2759380 CNV loss 17122850
nsv508381 CNV deletion 20534489
nsv819700 CNV loss 19587683

Variation tolerance for SMAD5 Gene

Gene Damage Index Score: 0.17; 3.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMAD5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD5 Gene

Disorders for SMAD5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMAD5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 52
  • dfna52
- elite association - COSMIC cancer census association via MalaCards
Search SMAD5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMAD5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SMAD5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMAD5 Gene

Publications for SMAD5 Gene

  1. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PMID: 19211612) Shintani M … Matsuoka R (Journal of medical genetics 2009) 3 22 44 58
  2. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PMID: 17847004) Milet J … Mosser J (American journal of human genetics 2007) 3 22 44 58
  3. Suv39h histone methyltransferases interact with Smads and cooperate in BMP-induced repression. (PMID: 15107829) Frontelo P … Lechleider RJ (Oncogene 2004) 3 4 22 58
  4. Smad5 and DPC4 are key molecules in mediating BMP-2-induced osteoblastic differentiation of the pluripotent mesenchymal precursor cell line C2C12. (PMID: 9442019) Nishimura R … Yoneda T (The Journal of biological chemistry 1998) 3 4 22 58
  5. Smad5, a tumor suppressor candidate at 5q31.1, is hemizygously lost and not mutated in the retained allele in human leukemia cell line HL60. (PMID: 9264367) Zavadil J … Michalová K (Leukemia 1997) 3 4 22 58

Products for SMAD5 Gene

Sources for SMAD5 Gene

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