Aliases for SMAD3 Gene
Aliases for SMAD3 Gene
- SMAD Family Member 3 2 3 4 5
- Mothers Against DPP Homolog 3 3 4
- MAD Homolog 3 3 4
- JV15-2 3 4
- HMAD-3 3 4
- HSMAD3 3 4
- MADH3 3 4
- MAD3 3 4
- MAD, Mothers Against Decapentaplegic Homolog 3 (Drosophila) 2
- SMAD, Mothers Against DPP Homolog 3 (Drosophila) 2
- MAD, Mothers Against Decapentaplegic Homolog 3 3
- Mothers Against Decapentaplegic Homolog 3 3
External Ids for SMAD3 Gene
- HGNC: 6769
- Entrez Gene: 4088
- Ensembl: ENSG00000166949
- OMIM: 603109
- UniProtKB: P84022
Previous HGNC Symbols for SMAD3 Gene
- MADH3
Previous GeneCards Identifiers for SMAD3 Gene
- GC15P065075
- GC15P065145
- GC15P067358
- GC15P044193
Summaries for SMAD3 Gene
-
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009]
GeneCards Summary for SMAD3 Gene
SMAD3 (SMAD Family Member 3) is a Protein Coding gene. Diseases associated with SMAD3 include Loeys-Dietz Syndrome 3 and Thoracic Aortic Aneurysms And Aortic Dissections. Among its related pathways are CCR5 Pathway in Macrophages and PEDF Induced Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is SMAD2.
UniProtKB/Swiss-Prot for SMAD3 Gene
-
Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD3 Gene
Genomics for SMAD3 Gene
Regulatory Elements for SMAD3 Gene
Enhancers for SMAD3 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SMAD3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SMAD3 gene promoter:
Regulatory Element Products
Genomic Location for SMAD3 Gene
- Chromosome:
- 15
- Start:
- 67,063,763 bp from pter
- End:
- 67,195,195 bp from pter
- Size:
- 131,433 bases
- Orientation:
- Plus strand
Genomic View for SMAD3 Gene
Genes around SMAD3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q22.33 by Ensembl
- 15q22.33 by Entrez Gene
- 15q22.33 by HGNC
SMAD3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMAD3 Gene
Proteins for SMAD3 Gene
-
Protein details for SMAD3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P84022-SMAD3_HUMAN
- Recommended name:
- Mothers against decapentaplegic homolog 3
- Protein Accession:
- P84022
- A8K4B6
- B7Z4Z5
- B7Z6M9
- B7Z9Q2
- F5H383
- O09064
- O09144
- O14510
- O35273
- Q92940
- Q93002
- Q9GKR4
Protein attributes for SMAD3 Gene
- Size:
- 425 amino acids
- Molecular mass:
- 48081 Da
- Quaternary structure:
-
- Monomer; in the absence of TGF-beta. Homooligomer; in the presence of TGF-beta. Heterotrimer; forms a heterotrimer in the presence of TGF-beta consisting of two molecules of C-terminally phosphorylated SMAD2 or SMAD3 and one of SMAD4 to form the transcriptionally active SMAD2/SMAD3-SMAD4 complex. Interacts with TGFBR1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3. Interacts with AIP1, TGFB1I1, TTRAP, FOXL2, PML, PRDM16, HGS, WWP1 and SNW1. Interacts (via MH2 domain) with CITED2 (via C-terminus). Interacts with NEDD4L; the interaction requires TGF-beta stimulation. Interacts (via the MH2 domain) with ZFYVE9. Interacts with HDAC1, VDR, TGIF and TGIF2, RUNX3, CREBBP, SKOR1, SKOR2, SNON, ATF2, SMURF2 and TGFB1I1. Interacts with DACH1; the interaction inhibits the TGF-beta signaling. Forms a complex with SMAD2 and TRIM33 upon addition of TGF-beta. Found in a complex with SMAD3, RAN and XPO4. Interacts in the complex directly with XPO4. Interacts (via the MH2 domain) with LEMD3; the interaction represses SMAD3 transcriptional activity through preventing the formation of the heteromeric complex with SMAD4 and translocation to the nucleus. Interacts with RBPMS. Interacts (via MH2 domain) with MECOM. Interacts with WWTR1 (via its coiled-coil domain). Interacts (via the linker region) with EP300 (C-terminal); the interaction promotes SMAD3 acetylation and is enhanced by TGF-beta phosphorylation in the C-terminal of SMAD3. This interaction can be blocked by competitive binding of adenovirus oncoprotein E1A to the same C-terminal site on EP300, which then results in partially inhibited SMAD3/SMAD4 transcriptional activity. Interacts with SKI; the interaction represses SMAD3 transcriptional activity. Component of the multimeric complex SMAD3/SMAD4/JUN/FOS which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. Interacts (via an N-terminal domain) with JUN (via its basic DNA binding and leucine zipper domains); this interaction is essential for DNA binding and cooperative transcriptional activity in response to TGF-beta. Interacts with PPM1A; the interaction dephosphorylates SMAD3 in the C-terminal SXS motif leading to disruption of the SMAD2/3-SMAD4 complex, nuclear export and termination of TGF-beta signaling. Interacts (dephosphorylated form via the MH1 and MH2 domains) with RANBP3 (via its C-terminal R domain); the interaction results in the export of dephosphorylated SMAD3 out of the nucleus and termination of the TGF-beta signaling. Interacts with MEN1. Interacts with IL1F7. Interaction with CSNK1G2. Interacts with PDPK1 (via PH domain). Interacts with DAB2; the interactions are enhanced upon TGF-beta stimulation. Interacts with USP15. Interacts with PPP5C; the interaction decreases SMAD3 phosphorylation and protein levels. Interacts with LDLRAD4 (via the SMAD interaction motif). Interacts with PMEPA1. Interacts with ZC3H3 (By similarity). Interacts with ZNF451 (PubMed:24324267). Identified in a complex that contains at least ZNF451, SMAD2, SMAD3 and SMAD4 (PubMed:24324267). Interacts with ZFHX3. Interacts weakly with ZNF8 (PubMed:12370310). Interacts (when phosphorylated) with RNF111; RNF111 acts as an enhancer of the transcriptional responses by mediating ubiquitination and degradation of SMAD3 inhibitors (By similarity). Interacts with STUB1, HSPA1A, HSPA1B, HSP90AA1 and HSP90AB1 (PubMed:24613385).
Three dimensional structures from OCA and Proteopedia for SMAD3 Gene
Protein Expression for SMAD3 Gene
Post-translational modifications for SMAD3 Gene
- Acetylation in the nucleus by EP300 in the MH2 domain regulates positively its transcriptional activity and is enhanced by TGF-beta.
- Phosphorylated on serine and threonine residues. Enhanced phosphorylation in the linker region on Thr-179, Ser-204 and Ser-208 on EGF and TGF-beta treatment. Ser-208 is the main site of MAPK-mediated phosphorylation. CDK-mediated phosphorylation occurs in a cell-cycle dependent manner and inhibits both the transcriptional activity and antiproliferative functions of SMAD3. This phosphorylation is inhibited by flavopiridol. Maximum phosphorylation at the G(1)/S junction. Also phosphorylated on serine residues in the C-terminal SXS motif by TGFBR1 and ACVR1. TGFBR1-mediated phosphorylation at these C-terminal sites is required for interaction with SMAD4, nuclear location and transactivational activity, and appears to be a prerequisite for the TGF-beta mediated phosphorylation in the linker region. Dephosphorylated in the C-terminal SXS motif by PPM1A. This dephosphorylation disrupts the interaction with SMAD4, promotes nuclear export and terminates TGF-beta-mediated signaling. Phosphorylation at Ser-418 by CSNK1G2/CK1 promotes ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Phosphorylated by PDPK1.
- Poly-ADP-ribosylated by PARP1 and PARP2. ADP-ribosylation negatively regulates SMAD3 transcriptional responses during the course of TGF-beta signaling.
- Ubiquitinated. Monoubiquitinated, leading to prevent DNA-binding (PubMed:21947082). Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes (PubMed:21947082). Ubiquitinated by RNF111, leading to its degradation: only SMAD3 proteins that are in use are targeted by RNF111, RNF111 playing a key role in activating SMAD3 and regulating its turnover (By similarity). Undergoes STUB1-mediated ubiquitination and degradation (PubMed:24613385).
- Ubiquitination at Lys33 and Lys81
- Modification sites at PhosphoSitePlus
Other Protein References for SMAD3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for SMAD3
- R&D Systems Antibodies for SMAD3 (Smad3)
- Cell Signaling Technology (CST) Antibodies for SMAD3 (SMAD3)
-
Custom Antibody ServicesOriGene Antibodies for SMAD3
- TA354079
- TA350976
- TA327874
- TA327873
- TA325857
- TA325856
- TA325855
- TA325854
- TA325853
- TA325852
- TA325124
- TA323927
- TA323926
- TA319191
- TA319190
- TA319189
- TA319188
- TA319187
- TA312267
- TA312266
- TA312265
- TA312264
- TA312263
- TA312262
- TA310021
- AP55907PU-S
- AP55907PU-N
- AP55873PU-S
- AP55873PU-N
- AP55872PU-S
- AP55872PU-N
- AP20336PU-N
- AP15778PU-S
- AP15778PU-N
- AP15778PU-M
- AP12710PU-N
- AP12709PU-N
- AP08465PU-N
- AP08075PU-S
- AP08075PU-N
- AP08074PU-S
- AP08074PU-N
- AP08027PU-S
- AP08027PU-N
- AP07817PU-N
- AP06414PU-N
- AP01455PU-N
- AP01454PU-N
- AM31100PU-N
- AM31099PU-N
- AM20332PU-N
- AM06479SU-N
- Novus Biologicals Antibodies for SMAD3
-
Abcam antibodies for SMAD3
-
Cloud-Clone Corp. Antibodies for SMAD3
- Invitrogen Antibodies for SMAD3
- antibodies-online Antibodies for SMAD3: See all 466
- GeneTex SMAD3 antibody for SMAD3
-
Custom Antibody ServicesProSci Antibodies for SMAD3
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMAD3
Protein Products
-
OriGene Purified Proteins for SMAD3
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD3
- Origene Custom Protein Services for SMAD3
- Sino Biological Cell Lysates for SMAD3
- Sino Biological Recombinant Proteins for SMAD3
- ProSpec Recombinant Proteins for SMAD3
-
Cloud-Clone Corp. Proteins for SMAD3
- antibodies-online Proteins for SMAD3: See all 29
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SMAD3
-
Abcam proteins for SMAD3
Assay Products
- Cell Signaling Technology (CST) Sandwich ELISA Kits for SMAD3 (SMAD3)
- eBioscience phospho-SMAD3 (Ser423/425) InstantOne ELISA 96 tests for SMAD3
- antibodies-online Kits for SMAD3: See all 48
-
Abcam assays for SMAD3
No data available for DME Specific Peptides for SMAD3 Gene
Domains & Families for SMAD3 Gene
Gene Families for SMAD3 Gene
- HGNC:
Protein Domains for SMAD3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMAD3 Gene
Graphical View of Domain Structure for InterPro Entry
P84022UniProtKB/Swiss-Prot:
SMAD3_HUMAN :- The MH1 domain is required for DNA binding. Also binds zinc ions which are necessary for the DNA binding.
- Belongs to the dwarfin/SMAD family.
- Domain:
-
- The MH1 domain is required for DNA binding. Also binds zinc ions which are necessary for the DNA binding.
- The MH2 domain is required for both homomeric and heteromeric interactions and for transcriptional regulation. Sufficient for nuclear import.
- The linker region is required for the TGFbeta-mediated transcriptional activity and acts synergistically with the MH2 domain.
- Family:
-
- Belongs to the dwarfin/SMAD family.
Function for SMAD3 Gene
Molecular function for SMAD3 Gene
- UniProtKB/Swiss-Prot Function:
- Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
| 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 core promoter proximal region sequence-specific DNA binding | IDA | 21947082 |
| GO:0000983 | transcription factor activity, RNA polymerase II core promoter sequence-specific | IMP | 26311719 |
| GO:0000987 | core promoter proximal region sequence-specific DNA binding | IDA | 18832382 |
| GO:0000988 | contributes_to transcription factor activity, protein binding | IDA | 18832382 |
Phenotypes for SMAD3 Gene
- MGI mutant phenotypes for SMAD3:
-
inferred from 5 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- digestive/alimentary phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- integument phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for SMAD3:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Decreased viability ratio
- Decreased viability after Maraba virus infection
- Decreased free cholesterol
- Increased Sindbis virus (SINV) infection
- Increased Nanog expression
- Increased LDL uptake
Animal Models for SMAD3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMAD3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SMAD3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD3 gene
- Search ViGene Biosciences for SMAD3
CRISPR Products
-
OriGene CRISPR knockouts for SMAD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD3
- GenScript: Design CRISPR guide RNA sequences for SMAD3
miRNA for SMAD3 Gene
- miRTarBase miRNAs that target SMAD3
-
- hsa-mir-200a-3p (MIRT007291)
- hsa-mir-18a-5p (MIRT007323)
- hsa-mir-335-5p (MIRT018567)
- hsa-mir-155-5p (MIRT020918)
- hsa-mir-193b-3p (MIRT041360)
- hsa-mir-17-5p (MIRT050933)
- hsa-mir-143-3p (MIRT053644)
- hsa-mir-145-5p (MIRT053650)
- hsa-mir-3529-3p (MIRT072699)
- hsa-mir-15a-5p (MIRT140820)
- hsa-mir-16-5p (MIRT140821)
- hsa-mir-15b-5p (MIRT140825)
- hsa-mir-195-5p (MIRT140827)
- gga-mir-489-3p (MIRT438244)
- hsa-mir-491-5p (MIRT438275)
- hsa-mir-92b-3p (MIRT438641)
- hsa-mir-4290 (MIRT497691)
- hsa-mir-18a-3p (MIRT497692)
Targeted motifs for SMAD3 Gene
HOMER Transcription Factor Regulatory Elements motif SMAD3
- Consensus sequence: TWGTCTGV Submotif: canonical Cell Type: NPC GEO ID: GSE36673
miRNA Products
- Search ViGene Biosciences for SMAD3
Clone Products
- Sino Biological Human cDNA Clone for SMAD3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SMAD3
- VectorBuilder custom plasmid, inducible vectors for SMAD3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for SMAD3
-
ViGene Biosciences adenoviral particle packaged cDNA for SMAD3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SMAD3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD3 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for SMAD3 Gene
Localization for SMAD3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMAD3 Gene
- Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236). {ECO:0000269 PubMed:15601644, ECO:0000269 PubMed:15799969, ECO:0000269 PubMed:16751101, ECO:0000269 PubMed:17327236, ECO:0000269 PubMed:19218245, ECO:0000269 PubMed:19289081}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 21828274 |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IDA,IEA | 9311995 |
| GO:0005637 | nuclear inner membrane | IDA | 15647271 |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
Pathways & Interactions for SMAD3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | SMAD2/3 MH2 Domain Mutants in Cancer | ||
| 2 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
| 3 | TGF-beta receptor signaling activates SMADs | ||
| 4 | Cell cycle |
.58
|
.58
|
| 5 | Toll-like Receptor Signaling Pathway |
.30
|
|
Pathways by source for SMAD3 Gene
1 Sino Biological pathway for SMAD3 Gene
2 GeneTex pathways for SMAD3 Gene
1 Cell Signaling Technology pathway for SMAD3 Gene
24 BioSystems pathways for SMAD3 Gene
26 Reactome pathways for SMAD3 Gene
19 KEGG pathways for SMAD3 Gene
11 GeneGo (Thomson Reuters) pathways for SMAD3 Gene
3 R&D Systems pathways for SMAD3 Gene
14 Qiagen pathways for SMAD3 Gene
Interacting Proteins for SMAD3 Gene
Selected Interacting proteins:
ENSP00000332973
P84022-SMAD3_HUMAN
for SMAD3 Gene via
STRING
MINT
UniProtKB
IID
SIGNOR curated interactions for SMAD3 Gene
- Activates:
- Inactivates:
- Is activated by:
- Is inactivated by:
- Other effect:
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | TAS | -- |
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0001649 | osteoblast differentiation | IEA | -- |
| GO:0001657 | ureteric bud development | IEA | -- |
| GO:0001666 | response to hypoxia | IMP | 12411310 |
Transcripts for SMAD3 Gene
mRNA/cDNA for SMAD3 Gene
- (6) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (267) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SMAD3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SMAD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD3
- GenScript: Design CRISPR guide RNA sequences for SMAD3
miRNA Products
- Search ViGene Biosciences for SMAD3
Clone Products
- Sino Biological Human cDNA Clone for SMAD3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SMAD3
- VectorBuilder custom plasmid, inducible vectors for SMAD3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - |
Expression for SMAD3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Trophoblast (Extraembryonic Tissues)
- Extraembryonic Ectoderm Cells Extraembryonic Ectoderm
- Trophoblast Cells Trophoblast
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Basal Keratinocytes Embryonic Epidermis
-
Adipose (Muscoskeletal System)
- Brown-like Adipocyte Cells Subcutaneous White Adipose
- Brown-like Adipocyte Cells Visceral White Adipose
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
-
Thymus (Hematopoietic System)
- T Helper Cells Thymus
-
Blood (Cardiovascular System)
- T Helper Cells Thymus
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
- Smooth Muscle (Muscoskeletal System)
This gene is overexpressed in Breast (23.8) and Pancreas (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMAD3 Gene
NURSA nuclear receptor signaling pathways regulating expression of SMAD3 Gene:
SMAD3SOURCE GeneReport for Unigene cluster for SMAD3 Gene:
Hs.727986Evidence on tissue expression from TISSUES for SMAD3 Gene
- Nervous system(4.8)
- Pancreas(4.6)
- Lung(4.2)
- Kidney(3.6)
- Intestine(3.4)
- Muscle(3.3)
- Liver(3)
- Skin(2.9)
- Blood(2.8)
- Heart(2.6)
- Eye(2.1)
- Bone marrow(2)
- Lymph node(2)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAD3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- neck
- pharynx
- skull
- tooth
Thorax:
- aorta
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
Pelvis:
- pelvis
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SMAD3
-
OriGene qPCR primer pairs and template standards for SMAD3
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SMAD3 Gene
Orthologs for SMAD3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SMAD2 35 |
|
OneToOne | |
| SMAD3 34 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | SMAD3 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SMAD3 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SMAD3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SMAD3 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Smad3 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Smad3 34 |
|
||
| chicken (Gallus gallus) |
Aves | SMAD3 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smad3 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | madh3-A 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | smad3a 35 |
|
OneToMany | |
| smad3b 35 34 |
|
OneToMany | |||
| madh3b 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1591 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Smox 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009777 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sma-2 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany |
- Species where no ortholog for SMAD3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
Paralogs for SMAD3 Gene
(9) SIMAP similar genes for SMAD3 Gene using alignment to 9 proteins:
Variants for SMAD3 Gene
| SNP ID | Clin | Chr 15 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387906850 | Pathogenic, Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] | 67,181,441(+) | TGACA(C/T)GGAGA | reference, missense | |
| rs387906851 | Pathogenic, Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] | 67,181,364(+) | CTTCA(C/T)CGACC | reference, missense | |
| rs387906852 | Pathogenic, Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] | 67,181,418(+) | CAACA(A/G)GAATG | reference, missense | |
| rs387906853 | Pathogenic, Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] | 67,181,297(+) | ACTAC(A/G)AGCTG | reference, missense | |
| rs387906854 | Pathogenic, Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] | 67,165,023(+) | GTTCG(C/T)CTTCA | upstream-variant-2KB, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv457e199 | CNV | deletion | 23128226 |
| esv1009806 | CNV | deletion | 20482838 |
| esv1476959 | CNV | deletion | 17803354 |
| esv2749799 | CNV | deletion | 23290073 |
| esv3552596 | CNV | deletion | 23714750 |
| nsv1112279 | CNV | deletion | 24896259 |
| nsv1147295 | CNV | deletion | 26484159 |
| nsv457187 | CNV | loss | 19166990 |
| nsv507785 | OTHER | sequence alteration | 20534489 |
| nsv512399 | CNV | loss | 21212237 |
| nsv569796 | CNV | loss | 21841781 |
| nsv569797 | CNV | loss | 21841781 |
| nsv569798 | CNV | loss | 21841781 |
| nsv94737 | CNV | deletion | 16902084 |
| nsv958804 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.57;
44.65% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SMAD3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD3 Gene
Disorders for SMAD3 Gene
(29) MalaCards diseases for SMAD3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| loeys-dietz syndrome 3 |
|
|
| thoracic aortic aneurysms and aortic dissections |
|
|
| smad3-related thoracic aortic aneurysms and aortic dissections |
|
|
| smad3-related loeys-dietz syndrome |
|
|
| loeys-dietz syndrome |
|
|
Search SMAD3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMAD3_HUMAN- Colorectal cancer (CRC) [MIM:114500]: 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:16959974}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
- Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]: An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and mental retardation. {ECO:0000269 PubMed:21217753, ECO:0000269 PubMed:21778426}. Note=The disease is caused by mutations affecting the gene represented in this entry. SMAD3 mutations have been reported to be also associated with thoracic aortic aneurysms and dissection (TAAD) (PubMed:21778426). This phenotype is distinguised from LDS3 by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also exhibit aneurysms of other arteries, including abdominal aorta, iliac, and/or intracranial arteries (PubMed:21778426), they have been classified as LDS3 by the OMIM resource. {ECO:0000269 PubMed:21778426}.
Relevant External Links for SMAD3
No data available for Genatlas for SMAD3 Gene
Publications for SMAD3 Gene
- Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PMID: 19255064) Ahn J. … Hayes R.B. (Carcinogenesis 2009) 3 22 46 64
- Ligand-dependent ubiquitination of Smad3 is regulated by casein kinase 1 gamma 2, an inhibitor of TGF-beta signaling. (PMID: 18794808) Guo X. … Wang X.-F. (Oncogene 2008) 3 4 22 64
- The mechanism of nuclear export of Smad3 involves exportin 4 and Ran. (PMID: 16449645) Kurisaki A. … Moustakas A. (Mol. Cell. Biol. 2006) 3 4 22 64
- Novel function of androgen receptor-associated protein 55/Hic-5 as a negative regulator of Smad3 signaling. (PMID: 15561701) Wang H. … Danielpour D. (J. Biol. Chem. 2005) 3 4 22 64
- The Smad3 linker region contains a transcriptional activation domain. (PMID: 15588252) Wang G. … Liu F. (Biochem. J. 2005) 3 4 22 64
Products for SMAD3 Gene
- R&D Systems Antibodies for SMAD3 (Smad3)
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- Custom Antibody ServicesOriGene Antibodies for SMAD3
- AM06479SU-N
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- TA310021
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- TA350976
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- Sino Biological Human cDNA Clone for SMAD3
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- Novus Biologicals Antibodies for SMAD3
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- Addgene plasmids for SMAD3
- antibodies-online Antibodies for SMAD3: See all 466
- antibodies-online Kits for SMAD3: See all 48
- antibodies-online Proteins for SMAD3: See all 29
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- GeneTex SMAD3 antibody for SMAD3
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- ViGene Biosciences adenoviral particle packaged cDNA for SMAD3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SMAD3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SMAD3 gene
- Search ViGene Biosciences for SMAD3
- Santa Cruz Biotechnology (SCBT) Antibodies for SMAD3
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- Santa Cruz Biotechnology (SCBT) CRISPR for SMAD3
- Custom Antibody ServicesProSci Antibodies for SMAD3
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- Horizon Cell Lines for SMAD3
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMAD3
- VectorBuilder custom plasmid, inducible vectors for SMAD3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for SMAD3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
- (15) Blocks
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- (21) IntAct
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- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
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- (90) Invitrogen
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- (92) Vector BioLabs
- (93) ESI-BIO
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- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
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- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
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- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (115) ProteomicsDB
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