• Navigation
  • Register My DNA Kit
  • Features
  • Pricing
  • FAQ
  • About
  • Labs
  • Login
  • Get started
  1. Home
  2. Genes
  3. SMAD3

SMAD3 (SMAD family member 3)

Loading...

The Function of SMAD3

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.

0 users want this gene increased, 0 users want it decreased

Protein names

Recommended name:

Mothers against decapentaplegic homolog 3

Alternative name(s):

MAD homolog 3
Mad3
Mothers against DPP homolog 3
hMAD-3
JV15-2
SMAD family member 3
SMAD 3
Smad3
hSMAD3

SMAD3 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS12913547 (SMAD3) ??
  2. RS17228058 (SMAD3) ??
  3. RS17228212 (SMAD3) ??
  4. RS17293632 (SMAD3) ??
  5. RS17294280 (SMAD3) ??
  6. RS56062135 (SMAD3) ??
  7. RS72743461 (SMAD3) ??
  8. RS72743477 (SMAD3) ??
  9. RS744910 (SMAD3) ??

Top Gene-Substance Interactions

SMAD3 Interacts with These Diseases

Disease Score

Substances That Increase SMAD3

Substances Interaction Organism Category

Substances That Decrease SMAD3

Substances Interaction Organism Category

Advanced Summary

     familial thoracic aortic aneurysm and dissection Genetics Home Reference provides information about familial thoracic aortic aneurysm and dissection. Loeys-Dietz syndrome At least 11 mutations in the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III. This disorder affects connective tissue, which gives structure and support to blood vessels, the skeleton, and many other parts of the body. Loeys-Dietz syndrome type III is characterized by abnormal blood vessels and skeletal and joint deformities. Some of the mutations that cause this disorder insert or delete small amounts of genetic material in the SMAD3 gene, while other mutations result in a change to single protein building blocks (amino acids) in the SMAD3 protein. These mutations lead to the production of a nonfunctional SMAD3 protein. Despite a reduction in SMAD3 function, the TGF-β pathway is overactive. Researchers speculate that the activity of proteins in this signaling pathway is increased to compensate for the lack of SMAD3 activity; however the exact mechanism responsible for the increase in signaling is unclear. The overactive signaling pathway leads to dysregulated cell proliferation and gene activation, specifically affecting blood vessel and cartilage development. These changes lead to the abnormalities typical of Loeys-Dietz syndrome type III.

     The SMAD3 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor-beta (TGF-β) pathway, allows the environment outside the cell to affect cell function, including how the cell produces other proteins. The signaling process begins when a TGF-β protein attaches (binds) to a receptor on the cell surface, which activates a group of related SMAD proteins (including the SMAD3 protein). These SMAD proteins bind together to form a protein complex, which then moves to the cell nucleus. In the nucleus, the SMAD protein complex binds to specific areas of DNA to control the activity of particular genes and regulate cell proliferation. By controlling gene activity and regulating cell proliferation, the SMAD3 protein serves both as a transcription factor and as a tumor suppressor. Transcription factors help control when particular genes are turned on or off, and tumor suppressors keep cells from growing and dividing too fast or in an uncontrolled way.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • ER-alpha
  • C/EBPbeta
  • C/EBPalpha
  • STAT5A
  • Zic1
  • c-Myc
  • Sp1
  • Sox9

Gene Pathways:

  • Disease
  • Pathways in cancer
  • Signal Transduction
  • Gene Expression
  • Wnt signaling pathway
  • Adherens junction
  • Colorectal cancer
  • TGF-beta signaling pathway
  • Chagas disease (American trypanosomiasis)
  • Chronic myeloid leukemia
  • Pancreatic cancer

Molecular Function:

  • Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Dna Binding
  • Transcription Factor Activity, Rna Polymerase Ii Core Promoter Sequence-Specific
  • Core Promoter Proximal Region Sequence-Specific Dna Binding
  • Rna Polymerase Ii Activating Transcription Factor Binding
  • Transcription Factor Activity, Sequence-Specific Dna Binding
  • Transforming Growth Factor Beta Receptor Binding
  • Transcription Factor Binding
  • Zinc Ion Binding
  • Protein Kinase Binding
  • Phosphatase Binding
  • Transforming Growth Factor Beta Receptor, Pathway-Specific Cytoplasmic Mediator Activity
  • Chromatin Dna Binding
  • Ubiquitin Protein Ligase Binding
  • Enhancer Binding
  • Identical Protein Binding
  • Protein Homodimerization Activity
  • Ubiquitin Binding
  • Bhlh Transcription Factor Binding
  • Sequence-Specific Dna Binding
  • Transcription Regulatory Region Dna Binding
  • Co-Smad Binding
  • R-Smad Binding

Biological Processes:

  • Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Ureteric Bud Development
  • Response To Hypoxia
  • In Utero Embryonic Development
  • Mesoderm Formation
  • Somitogenesis
  • Liver Development
  • Heart Looping
  • Osteoblast Development
  • Immune System Development
  • Transcription, Dna-Templated
  • Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Transport
  • Activation Of Cysteine-Type Endopeptidase Activity Involved In Apoptotic Process
  • Immune Response
  • Smad Protein Complex Assembly
  • Cell Cycle Arrest
  • Transforming Growth Factor Beta Receptor Signaling Pathway
  • Endoderm Development
  • Embryonic Pattern Specification
  • Positive Regulation Of Gene Expression
  • Positive Regulation Of Alkaline Phosphatase Activity
  • Positive Regulation Of Epithelial To Mesenchymal Transition
  • Regulation Of Striated Muscle Tissue Development
  • Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway
  • Evasion Or Tolerance Of Host Defenses By Virus
  • Signal Transduction Involved In Regulation Of Gene Expression
  • Negative Regulation Of Cell Growth
  • Positive Regulation Of Cell Migration
  • Positive Regulation Of Bone Mineralization
  • Negative Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway
  • Thyroid Gland Development
  • Primary Mirna Processing
  • Positive Regulation Of Chondrocyte Differentiation
  • Positive Regulation Of Interleukin-1 Beta Production
  • Regulation Of Transforming Growth Factor Beta2 Production
  • Positive Regulation Of Transforming Growth Factor Beta3 Production
  • Activin Receptor Signaling Pathway
  • Negative Regulation Of Osteoblast Proliferation
  • Positive Regulation Of Catenin Import Into Nucleus
  • Nodal Signaling Pathway
  • Wound Healing
  • T Cell Activation
  • Negative Regulation Of Protein Catabolic Process
  • Positive Regulation Of Transcription Factor Import Into Nucleus
  • Negative Regulation Of Apoptotic Process
  • Cell-Cell Junction Organization
  • Positive Regulation Of Nitric Oxide Biosynthetic Process
  • Negative Regulation Of Fat Cell Differentiation
  • Negative Regulation Of Osteoblast Differentiation
  • Positive Regulation Of Transcription, Dna-Templated
  • Negative Regulation Of Mitotic Cell Cycle
  • Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Paraxial Mesoderm Morphogenesis
  • Developmental Growth
  • Embryonic Foregut Morphogenesis
  • Embryonic Cranial Skeleton Morphogenesis
  • Regulation Of Epithelial Cell Proliferation
  • Negative Regulation Of Inflammatory Response
  • Regulation Of Immune Response
  • Protein Stabilization
  • Positive Regulation Of Positive Chemotaxis
  • Regulation Of Binding
  • Negative Regulation Of Cytosolic Calcium Ion Concentration
  • Positive Regulation Of Stress Fiber Assembly
  • Positive Regulation Of Focal Adhesion Assembly
  • Pericardium Development
  • Canonical Wnt Signaling Pathway
  • Transdifferentiation
  • Smad Protein Signal Transduction
  • Negative Regulation Of Wound Healing
  • Lens Fiber Cell Differentiation
  • Extrinsic Apoptotic Signaling Pathway
  • Activation Of Cysteine-Type Endopeptidase Activity Involved In Apoptotic Signaling Pathway
  • Positive Regulation Of Extracellular Matrix Assembly
  • Positive Regulation Of Pri-Mirna Transcription From Rna Polymerase Ii Promoter
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| Anapl_16595| AS27_14980| CB1_000715041| D623_10022298| EH28_09133| GW7_10531| H920_13466| hMAD-3| hSMAD3| hspc193| HsT17436| I79_006747| JV15-2| LDS1C| LDS3| M959_10238| mad3| Madh3| MAD homolog 3| mad homolog JV15-2| MAD (mothers against decapentaplegic, Drosophila) homolog 3| MAD, mothers against decapentaplegic homolog 3| mad protein homolog| MDA_GLEAN10015273| mMad3| Mothers against decapentaplegic| mothers against decapentaplegic 2-like protein| Mothers against decapentaplegic 3| Mothers against decapentaplegic-3| mothers against decapentaplegic 3-like protein| Mothers against decapentaplegic 9| Mothers against decapentaplegic homolog 3| Mothers against decapentaplegic-like 3| Mothers against decapentaplegic like protein 2| Mothers against decapentaplegic like protein 3| Mothers against decapentaplegic-like protein 3| mothers against DPP homolog 3| N300_05579| N301_04363| N302_04979| N303_01893| N305_10493| N306_03870| N307_02668| N309_14596| N310_06623| N312_12316| N322_09473| N324_04432| N328_12424| N330_11719| N332_10182| N339_09328| N340_13576| N341_01158| PAL_GLEAN10023350| PANDA_002204| putative mothers against decapentaplegic-like protein| SMA- and MAD-related protein 3| SMAD 3| SMAD, mothers against DPP homolog 3| TGF-beta response effector Smad3| TREES_T100014177| UY3_06758| XenMLP| Xmad3| XSmad3| Y1Q_024006| Y956_09659| Z169_13853| smad3

Policies

  • Terms of Service
  • Platform Consent
  • Privacy Policy
  • Disclaimer

About

  • Customer Support
  • Our Team
  • Affiliate Program

Navigation

  • Homepage
  • DNA Wellness Reports
  • Personalized Genetics Blog
  • Register your DNA Test Kit
  • Login
  • Careers
GET STARTED
  • SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode does not treat, diagnose or cure any conditions, but is for informational and educational purposes alone.
SelfDecode © 2021 All Rights Reserved