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SMAD2 SMAD family member 2 [ Homo sapiens (human) ]

Gene ID: 4087, updated on 17-Sep-2017
Official Symbol
SMAD2provided by HGNC
Official Full Name
SMAD family member 2provided by HGNC
Primary source
HGNC:HGNC:6768
See related
Ensembl:ENSG00000175387 MIM:601366; Vega:OTTHUMG00000132652
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JV18; MADH2; MADR2; JV18-1; hMAD-2; hSMAD2
Summary
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 mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Orthologs
Location:
18q21.1
Exon count:
18
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (47833095..47931193, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (45359466..45457564, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372100 Neighboring gene thiopurine S-methyltransferase pseudogene 1 Neighboring gene mitochondrially encoded cytochrome c oxidase II pseudogene 2 Neighboring gene uncharacterized LOC105372101 Neighboring gene zinc finger and BTB domain containing 7C Neighboring gene uncharacterized LOC105372104 Neighboring gene RNA, U6 small nuclear 708, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
HIV-1 replication is restricted by TGFB1 and SMAD2 in Langerhans cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 and p300 synergistically increase TGF-beta, ATF-2 and activating protein-1 (AP-1) expression leading to tubular cell apoptosis; in addition, HIV-1 gp120 treatment causes phosphorylation of Smad2 and downregulation of c-Jun PubMed
Tat tat HIV-1 Tat-treated pulmonary arterial smooth muscle cells downregulate levels of phosphorylated SMAD2/3 proteins and SMAD2/3-SMAD4 protein complex, which are repressed by cocaine exposure PubMed
tat HIV-1 Tat enhances binding of SMAD2, -3 and -4 and their binding partner Fast1 to the JCV DNA control region (CR) to stimulate JCV gene transcription in living cells PubMed

Go to the HIV-1, Human Interaction Database

  • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
    AGE/RAGE pathway, organism-specific biosystemAdvanced glycation end products (AGEs) are heterogeneous group of non-enzymatic malliard reaction products of aldose sugar with proteins and lipids. Formation of AGEs is an indicator of one of the ma...
  • Activin signaling, organism-specific biosystem (from KEGG)
    Activin signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Activin signaling, conserved biosystem (from KEGG)
    Activin signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Apelin signaling pathway, organism-specific biosystem (from KEGG)
    Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
  • Canonical and Non-Canonical TGF-B signaling, organism-specific biosystem (from WikiPathways)
    Canonical and Non-Canonical TGF-B signaling, organism-specific biosystemThis pathway is modeled after Figure 9 in the article "Gremlin utilizes canonical and non-canonical TGFB signaling to induce lysyl oxidase (LOX) genes in human trabecular meshwork cells". Gremlin is ...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Colorectal cancer, organism-specific biosystem (from KEGG)
    Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Colorectal cancer, conserved biosystem (from KEGG)
    Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystem (from REACTOME)
    Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystemTranscriptional activity of SMAD2/3:SMAD4 heterotrimer can be inhibited by formation of a complex with SKI or SKIL (SNO), where SKI or SKIL recruit NCOR and possibly other transcriptional repressors ...
  • Downregulation of TGF-beta receptor signaling, organism-specific biosystem (from REACTOME)
    Downregulation of TGF-beta receptor signaling, organism-specific biosystemTGF-beta receptor signaling is downregulated by proteasome and lysosome-mediated degradation of ubiquitinated TGFBR1, SMAD2 and SMAD3, as well as by dephosphorylation of TGFBR1, SMAD2 and SMAD3. In t...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystem (from WikiPathways)
    Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystemProtein sorting during formation of multivesicular bodies results in packaging of key molecules in exosomes. Exosomes bound-signaling ligands once released from host cells interacts with the receptor...
  • Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystem (from WikiPathways)
    Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystemThe signaling pathway that involves insulin-like growth factor 1 (IGF1), and a variety of other components that affect the pathway, plays an important role in the regulation of skeletal muscle growth...
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
    Glypican 1 network, organism-specific biosystem
    Glypican 1 network
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystem (from WikiPathways)
    Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystemThe pathways hypothesized to be involved in cardiovascular diseases begin with LTBPs and Fibrillins activating a TGFBR complex. The complex can begin the canonical TGFB pathway involving SMAD protei...
  • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
    Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
    Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Integrated Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Cancer Pathway, organism-specific biosystem
    Integrated Cancer Pathway
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Loss of Function of SMAD2/3 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of SMAD2/3 in Cancer, organism-specific biosystemLoss-of-function of SMAD2 and SMAD3 in cancer occurs less frequently than the loss of SMAD4 function and was studied in most detail in colorectal cancer (Fleming et al. 2013). Similarly to SMAD4, cod...
  • Loss of Function of SMAD4 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of SMAD4 in Cancer, organism-specific biosystemSMAD4 was identified as a gene homozygously deleted in ~30% of pancreatic cancers and was named DPC4 (DPC stands for deleted in pancreatic cancer). SMAD4 maps to the chromosomal band 18q21.1, and abo...
  • Loss of Function of TGFBR1 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of TGFBR1 in Cancer, organism-specific biosystemTGF-beta receptor 1 (TGFBR1) loss-of-function is a less frequent mechanism for inactivation of TGF-beta signaling in cancer compared to SMAD4 and TGFBR2 inactivation. Genomic deletion of TGFBR1 locus...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Pancreatic cancer, organism-specific biosystem (from KEGG)
    Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
  • Pancreatic cancer, conserved biosystem (from KEGG)
    Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Regulation of cytoplasmic and nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of cytoplasmic and nuclear SMAD2/3 signaling, organism-specific biosystem
    Regulation of cytoplasmic and nuclear SMAD2/3 signaling
  • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
    Regulation of nuclear SMAD2/3 signaling
  • SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystemMutations in the MH2 domain of SMAD2 and SMAD3 affect their ability to form heterotrimers with SMAD4, thereby impairing TGF-beta signaling (Fleming et al. 2013).The SMAD2 and SMAD3 MH2 domain residue...
  • SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystemThe conserved phosphorylation motif Ser-Ser-X-Ser at the C-terminus of SMAD2 and SMAD3 is subject to disruptive mutations in cancer. The last two serine residues in this conserved motif, namely Ser46...
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystem (from REACTOME)
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystemAfter phosphorylated SMAD2 and/or SMAD3 form a heterotrimer with SMAD4, SMAD2/3:SMAD4 complex translocates to the nucleus (Xu et al. 2000, Kurisaki et al. 2001, Xiao et al. 2003). In the nucleus, lin...
  • SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystemThe MH2 domain of SMAD4 is the most frequently mutated SMAD4 region in cancer. MH2 domain mutations result in the loss of function of SMAD4 by abrogating the formation of transcriptionally active het...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Activin, organism-specific biosystem (from REACTOME)
    Signaling by Activin, organism-specific biosystemActivin was initially discovered as an activator of follicle stimulating hormone in the pituitary gland. It has since been shown to be an important participant in the differentiation of embryonic cel...
  • Signaling by NODAL, organism-specific biosystem (from REACTOME)
    Signaling by NODAL, organism-specific biosystemSignaling by NODAL is essential for patterning of the axes of the embryo and formation of mesoderm and endoderm (reviewed in Schier 2009, Shen 2007). The NODAL proprotein is secreted and cleaved extr...
  • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
    Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
  • Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystemSignaling by the TGF-beta receptor complex is tumor suppressive, as it inhibits cell growth and promotes cell differentiation and apoptosis (Shipley et al. 1986, Hannon et al. 1994, Datto et al. 1995...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition, organism-specific biosystem (from WikiPathways)
    TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition, organism-specific biosystemThis pathway is based on the Figure 7 of "Cadherin 6 Is a New RUNX2 Target in TGF-? Signalling Pathway" (see bibliography). TGF-B is a target gene in thyroid cells in the causation of cancer. When TG...
  • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
  • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling
  • TGF-beta receptor signaling activates SMADs, organism-specific biosystem (from REACTOME)
    TGF-beta receptor signaling activates SMADs, organism-specific biosystemBinding of transforming growth factor beta 1 (TGF beta 1, i.e. TGFB1) to TGF beta receptor type 2 (TGFBR2) activates TGF beta receptor signaling cascade. TGFB1 is posttranslationally processed by fur...
  • TGF-beta signaling, organism-specific biosystem (from KEGG)
    TGF-beta signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • TGF-beta signaling, conserved biosystem (from KEGG)
    TGF-beta signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGFBR1 KD Mutants in Cancer, organism-specific biosystem (from REACTOME)
    TGFBR1 KD Mutants in Cancer, organism-specific biosystemMutations in the kinase domain (KD) of TGF-beta receptor 1 (TGFBR1) have been found in Ferguson-Smith tumor i.e. multiple self-healing squamous epithelioma - MSSE (Goudie et al. 2011), breast cancer ...
  • Tgif disruption of Shh signaling, organism-specific biosystem (from WikiPathways)
    Tgif disruption of Shh signaling, organism-specific biosystemMutations in the Sonic Hedgehog(SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE. HPE is a severe human genetic disease affecting craniofa...
  • Th17 cell differentiation, organism-specific biosystem (from KEGG)
    Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
  • Th17 cell differentiation, conserved biosystem (from KEGG)
    Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
  • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
  • Transcriptional regulation of pluripotent stem cells, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of pluripotent stem cells, organism-specific biosystemPluripotent stem cells are undifferentiated cells posessing an abbreviated cell cycle (reviewed in Stein et al. 2012), a characteristic profile of gene expression (Rao et al. 2004, Kim et al. 2006, P...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC22139, MGC34440

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
I-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
R-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
co-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
disordered domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
double-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enhancer binding IC
Inferred by Curator
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
primary miRNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to transcription factor activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity IDA
Inferred from Direct Assay
more info
PubMed 
type I transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
SMAD protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
common-partner SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
embryonic cranial skeleton morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endoderm formation IEA
Inferred from Electronic Annotation
more info
 
gastrulation TAS
Traceable Author Statement
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
insulin secretion IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
nodal signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
organ growth IEA
Inferred from Electronic Annotation
more info
 
palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
pancreas development IEA
Inferred from Electronic Annotation
more info
 
paraxial mesoderm morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pericardium development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
primary miRNA processing TAS
Traceable Author Statement
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of binding ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to cholesterol IDA
Inferred from Direct Assay
more info
PubMed 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell population maintenance TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
ureteric bud development IEA
Inferred from Electronic Annotation
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
zygotic specification of dorsal/ventral axis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
SMAD protein complex IDA
Inferred from Direct Assay
more info
PubMed 
SMAD2-SMAD3 protein complex IDA
Inferred from Direct Assay
more info
PubMed 
activin responsive factor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mothers against decapentaplegic homolog 2
Names
MAD homolog 2
SMAD, mothers against DPP homolog 2
Sma- and Mad-related protein 2
mother against DPP homolog 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029946.1 RefSeqGene

    Range
    5546..103050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001003652.3NP_001003652.1  mothers against decapentaplegic homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_001003652.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC120349, AI453799, BC025699, DB035686, DB462454
    Consensus CDS
    CCDS11934.1
    UniProtKB/Swiss-Prot
    Q15796
    UniProtKB/TrEMBL
    Q53XR6
    Related
    ENSP00000384449.1, OTTHUMP00000263823, ENST00000402690.6, OTTHUMT00000450571
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  2. NM_001135937.2NP_001129409.1  mothers against decapentaplegic homolog 2 isoform 2

    See identical proteins and their annotated locations for NP_001129409.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as SMAD2Deltaexon3) lacks an in-frame exon in the 5' coding region, compared to variant 2, resulting in an isoform (2) that is shorter than isoform 1. There are no publicly available full-length transcripts representing this variant, but it is supported by data in Taekenoshita et al. (1998; PMID: 9503010) and Yagi et al. (1999; PMID: 9873005).
    Source sequence(s)
    AC120349, AI453799, AK299218, DB035686, DB462454
    UniProtKB/TrEMBL
    B7Z5N5
    Related
    ENSP00000349282.4, ENST00000356825.8
    Conserved Domains (2) summary
    cd10491
    Location:8142
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:236426
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  3. NM_005901.5NP_005892.1  mothers against decapentaplegic homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_005892.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate exon (1b) in the 5' UTR compared to variant 2. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC120349, AI453799, BC014840
    Consensus CDS
    CCDS11934.1
    UniProtKB/Swiss-Prot
    Q15796
    UniProtKB/TrEMBL
    Q53XR6
    Related
    ENSP00000262160.6, OTTHUMP00000163489, ENST00000262160.10, OTTHUMT00000255903
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

    Range
    47833095..47931193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025750.1XP_016881239.1  mothers against decapentaplegic homolog 2 isoform X7

    Conserved Domains (1) summary
    cd10985
    Location:26216
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  2. XM_017025747.1XP_016881236.1  mothers against decapentaplegic homolog 2 isoform X4

  3. XM_006722451.3XP_006722514.1  mothers against decapentaplegic homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_006722514.1

    UniProtKB/Swiss-Prot
    Q15796
    UniProtKB/TrEMBL
    Q53XR6
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  4. XM_017025748.1XP_016881237.1  mothers against decapentaplegic homolog 2 isoform X5

    Conserved Domains (2) summary
    cd10985
    Location:213403
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
    cl00055
    Location:56119
    MH1; N-terminal Mad Homology 1 (MH1) domain
  5. XM_017025746.1XP_016881235.1  mothers against decapentaplegic homolog 2 isoform X2

    UniProtKB/Swiss-Prot
    Q15796
    Conserved Domains (2) summary
    cd10491
    Location:8142
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:236426
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  6. XM_005258259.3XP_005258316.1  mothers against decapentaplegic homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_005258316.1

    UniProtKB/Swiss-Prot
    Q15796
    UniProtKB/TrEMBL
    Q53XR6
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  7. XM_011525985.2XP_011524287.1  mothers against decapentaplegic homolog 2 isoform X5

    Conserved Domains (2) summary
    cd10985
    Location:213403
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
    cl00055
    Location:56119
    MH1; N-terminal Mad Homology 1 (MH1) domain
  8. XM_017025745.1XP_016881234.1  mothers against decapentaplegic homolog 2 isoform X1

    UniProtKB/Swiss-Prot
    Q15796
    UniProtKB/TrEMBL
    Q53XR6
    Conserved Domains (2) summary
    cd10491
    Location:8172
    MH1_SMAD_2_3; N-terminal Mad Homology 1 (MH1) domain in SMAD2 and SMAD3
    cd10985
    Location:266456
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
  9. XM_011525984.2XP_011524286.1  mothers against decapentaplegic homolog 2 isoform X3

    Conserved Domains (2) summary
    cd10985
    Location:224414
    MH2_SMAD_2_3; C-terminal Mad Homology 2 (MH2) domain in SMAD2 and SMAD3
    cl00055
    Location:67130
    MH1; N-terminal Mad Homology 1 (MH1) domain
  10. XM_017025749.1XP_016881238.1  mothers against decapentaplegic homolog 2 isoform X6

    Related
    ENSP00000466254.1, OTTHUMP00000263826, ENST00000587269.5, OTTHUMT00000450575

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 Alternate CHM1_1.1

    Range
    45354416..45452506 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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