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Aliases for SMAD7 Gene

Aliases for SMAD7 Gene

  • SMAD Family Member 7 2 3 4 5
  • Mothers Against DPP Homolog 8 3 4
  • MAD Homolog 8 3 4
  • HSMAD7 3 4
  • MADH7 3 4
  • MADH8 3 4
  • MAD, Mothers Against Decapentaplegic Homolog 7 (Drosophila) 2
  • MAD (Mothers Against Decapentaplegic, Drosophila) Homolog 7 3
  • Mothers Against Decapentaplegic, Drosophila, Homolog Of, 7 3
  • SMAD, Mothers Against DPP Homolog 7 (Drosophila) 2
  • Mothers Against Decapentaplegic Homolog 8 4
  • SMAD, Mothers Against DPP Homolog 7 3
  • Mothers Against DPP Homolog 7 4
  • MAD Homolog 7 4
  • SMAD 7 4
  • CRCS3 3
  • Smad7 4

External Ids for SMAD7 Gene

Previous HGNC Symbols for SMAD7 Gene

  • MADH8
  • MADH7

Previous GeneCards Identifiers for SMAD7 Gene

  • GC18M044699
  • GC18M044700
  • GC18M046446
  • GC18M043299

Summaries for SMAD7 Gene

Entrez Gene Summary for SMAD7 Gene

  • The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneCards Summary for SMAD7 Gene

SMAD7 (SMAD Family Member 7) is a Protein Coding gene. Diseases associated with SMAD7 include colorectal cancer 3 and fibrodysplasia ossificans progressiva. Among its related pathways are Hippo signaling pathway and TGF-beta signaling pathway (KEGG). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is SMAD1.

UniProtKB/Swiss-Prot for SMAD7 Gene

  • Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator (By similarity).

Gene Wiki entry for SMAD7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD7 Gene

Genomics for SMAD7 Gene

Regulatory Elements for SMAD7 Gene

Enhancers for SMAD7 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 SMAD7 on UCSC Golden Path with GeneCards custom track

Promoters for SMAD7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMAD7 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMAD7 Gene

Chromosome:
18
Start:
48,919,853 bp from pter
End:
48,950,711 bp from pter
Size:
30,859 bases
Orientation:
Minus strand

Genomic View for SMAD7 Gene

Genes around SMAD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMAD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMAD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAD7 Gene

Proteins for SMAD7 Gene

  • Protein details for SMAD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15105-SMAD7_HUMAN
    Recommended name:
    Mothers against decapentaplegic homolog 7
    Protein Accession:
    O15105
    Secondary Accessions:
    • B7Z773
    • K7EQ10
    • O14740
    • Q6DK23

    Protein attributes for SMAD7 Gene

    Size:
    426 amino acids
    Molecular mass:
    46426 Da
    Quaternary structure:
    • Interacts with WWP1 (By similarity). Interacts with COPS5. Interacts with NEDD4L. Interacts with STAMBP. Interacts with RNF111, AXIN1 and AXIN2. Interacts with PPP1R15A. Interacts (via MH2 domain) with EP300. Interacts with ACVR1B, SMURF1, SMURF2 and TGFBR1; SMAD7 recruits SMURF1 and SMURF2 to the TGF-beta receptor and regulates its degradation. Interacts with PDPK1 (via PH domain).

    Three dimensional structures from OCA and Proteopedia for SMAD7 Gene

    Alternative splice isoforms for SMAD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMAD7 Gene

Proteomics data for SMAD7 Gene at MOPED

Post-translational modifications for SMAD7 Gene

  • Acetylation prevents ubiquitination and degradation mediated by SMURF1.
  • Phosphorylation on Ser-249 does not affect its stability, nuclear localization or inhibitory function in TGFB signaling; however it affects its ability to regulate transcription (By similarity). Phosphorylated by PDPK1.
  • Ubiquitinated by WWP1 (By similarity). Polyubiquitinated by RNF111, which is enhanced by AXIN1 and promotes proteasomal degradation. In response to TGF-beta, ubiquitinated by SMURF1; which promotes its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMAD7 Gene

Antibody Products

No data available for DME Specific Peptides for SMAD7 Gene

Domains & Families for SMAD7 Gene

Gene Families for SMAD7 Gene

Suggested Antigen Peptide Sequences for SMAD7 Gene

Graphical View of Domain Structure for InterPro Entry

O15105

UniProtKB/Swiss-Prot:

SMAD7_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 SMAD7: view

Function for SMAD7 Gene

Molecular function for SMAD7 Gene

UniProtKB/Swiss-Prot Function:
Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator (By similarity).
UniProtKB/Swiss-Prot Induction:
By TGFB1.

Gene Ontology (GO) - Molecular Function for SMAD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IEA,IPI 14993265
GO:0005518 collagen binding IEA --
genes like me logo Genes that share ontologies with SMAD7: view
genes like me logo Genes that share phenotypes with SMAD7: view

Animal Models for SMAD7 Gene

MGI Knock Outs for SMAD7:

Animal Model Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMAD7 Gene

Localization for SMAD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAD7 Gene

Nucleus. Cytoplasm. Note=Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236). {ECO:0000269 PubMed:16601693, ECO:0000269 PubMed:17327236}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMAD7 Gene COMPARTMENTS Subcellular localization image for SMAD7 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMAD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11278251
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA 11278251
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SMAD7: view

Pathways & Interactions for SMAD7 Gene

genes like me logo Genes that share pathways with SMAD7: view

SIGNOR curated interactions for SMAD7 Gene

Gene Ontology (GO) - Biological Process for SMAD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0010801 negative regulation of peptidyl-threonine phosphorylation IDA 18593713
GO:0010944 negative regulation of transcription by competitive promoter binding IDA 17438144
genes like me logo Genes that share ontologies with SMAD7: view

Drugs & Compounds for SMAD7 Gene

(8) Drugs for SMAD7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for SMAD7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SMAD7: view

Transcripts for SMAD7 Gene

Unigene Clusters for SMAD7 Gene

SMAD family member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMAD7 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for SMAD7 Gene

GeneLoc Exon Structure for
SMAD7
ECgene alternative splicing isoforms for
SMAD7

Expression for SMAD7 Gene

mRNA expression in normal human tissues for SMAD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMAD7 Gene

This gene is overexpressed in Artery - Tibial (x4.9) and Heart - Atrial Appendage (x4.6).

SOURCE GeneReport for Unigene cluster for SMAD7 Gene Hs.465087

mRNA Expression by UniProt/SwissProt for SMAD7 Gene

O15105-SMAD7_HUMAN
Tissue specificity: Ubiquitous with higher expression in the lung and vascular endothelium.
genes like me logo Genes that share expression patterns with SMAD7: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SMAD7 Gene

Orthologs for SMAD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMAD7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMAD7 35
  • 94.99 (n)
  • 96.48 (a)
SMAD7 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMAD7 35
  • 95.28 (n)
  • 96.23 (a)
SMAD7 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smad7 35
  • 95.38 (n)
  • 98.12 (a)
Smad7 16
Smad7 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMAD7 35
  • 99.77 (n)
  • 99.77 (a)
SMAD7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smad7 35
  • 94.99 (n)
  • 97.89 (a)
oppossum
(Monodelphis domestica)
Mammalia SMAD7 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMAD7 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMAD7 35
  • 78.12 (n)
  • 80.36 (a)
SMAD7 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAD7 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smad7 35
  • 79.09 (n)
  • 85.04 (a)
Str.18078 35
African clawed frog
(Xenopus laevis)
Amphibia madh7 35
zebrafish
(Danio rerio)
Actinopterygii madh7 35
smad7 35
  • 77.06 (n)
  • 80.11 (a)
smad7 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dad 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-8 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9437 36
  • 35 (a)
OneToMany
Species with no ortholog for SMAD7:
  • 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 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 SMAD7 Gene

ENSEMBL:
Gene Tree for SMAD7 (if available)
TreeFam:
Gene Tree for SMAD7 (if available)

Paralogs for SMAD7 Gene

Paralogs for SMAD7 Gene

(3) SIMAP similar genes for SMAD7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SMAD7: view

Variants for SMAD7 Gene

Sequence variations from dbSNP and Humsavar for SMAD7 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs8085824 -- 48,922,741(+) CCTTC(C/T)CTGCC intron-variant
rs8088297 -- 48,920,470(+) ACAGG(A/C)TGGGA utr-variant-3-prime
rs4939567 -- 48,925,503(+) TGGGT(A/G)TTGAG intron-variant
rs4939825 -- 48,925,436(+) TGCCC(C/G)CCCCC intron-variant
rs4939826 -- 48,927,036(+) GGGCT(A/C)ACTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMAD7 Gene

Variant ID Type Subtype PubMed ID
nsv833644 CNV Gain 17160897
nsv833645 CNV Loss 17160897

Variation tolerance for SMAD7 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMAD7 Gene

HapMap Linkage Disequilibrium report
SMAD7
Human Gene Mutation Database (HGMD)
SMAD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD7 Gene

Disorders for SMAD7 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SMAD7 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer 3
  • colorectal cancer, susceptibility to, 3
fibrodysplasia ossificans progressiva
  • myositis ossificans progressiva
renal fibrosis
hypochondrogenesis
  • achondrogenesis type ii/hypochondrogenesis
ureteral disease
  • ureteral diseases
- elite association - COSMIC cancer census association via MalaCards
Search SMAD7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SMAD7_HUMAN
  • Colorectal cancer 3 (CRCS3) [MIM:612229]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:17934461}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for SMAD7

Genetic Association Database (GAD)
SMAD7
Human Genome Epidemiology (HuGE) Navigator
SMAD7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMAD7
genes like me logo Genes that share disorders with SMAD7: view

No data available for Genatlas for SMAD7 Gene

Publications for SMAD7 Gene

  1. Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium. (PMID: 9256479) Topper J.N. … Falb D. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 67
  2. Increased risk of colon cancer associated with a genetic polymorphism of SMAD7. (PMID: 20124488) Slattery M.L. … Peters U. (Cancer Res. 2010) 3 23
  3. Smad7 in T cells drives T helper 1 responses in multiple sclerosis and experimental autoimmune encephalomyelitis. (PMID: 20354004) Kleiter I. … Waisman A. (Brain 2010) 3 23
  4. Smad7 is required for the development and function of the heart. (PMID: 18952608) Chen Q. … Chen Y. (J. Biol. Chem. 2009) 3 23
  5. Regulation of TGF-beta signaling by Smad7. (PMID: 19352540) Yan X. … Chen Y. (Acta Biochim. Biophys. Sin. (Shanghai) 2009) 3 23

Products for SMAD7 Gene

Sources for SMAD7 Gene

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