Human Gene SMAD2 (uc002lcz.4) Description and Page Index
  Description: Homo sapiens SMAD family member 2 (SMAD2), transcript variant 2, mRNA.
RefSeq Summary (NM_001003652): 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].
Transcript (Including UTRs)
   Position: hg19 chr18:45,359,466-45,457,517 Size: 98,052 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr18:45,368,198-45,423,127 Size: 54,930 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:45,359,466-45,457,517)mRNA (may differ from genome)Protein (467 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SMAD2_HUMAN
DESCRIPTION: RecName: Full=Mothers against decapentaplegic homolog 2; Short=MAD homolog 2; Short=Mothers against DPP homolog 2; AltName: Full=JV18-1; AltName: Full=Mad-related protein 2; Short=hMAD-2; AltName: Full=SMAD family member 2; Short=SMAD 2; Short=Smad2; Short=hSMAD2;
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 SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
SUBUNIT: Momomer; the absence of TGF-beta. Heterodimer; in the presence of TGF-beta. Forms a heterodimer with co-SMAD, SMAD4, in the nucleus to form the transactivation complex SMAD2/SMAD4. Interacts with AIP1, HGS, PML and WWP1 (By similarity). Interacts with NEDD4L in response to TGF-beta (By similarity). Found in a complex with SMAD3 and TRIM33 upon addition of TGF-beta. Interacts with ACVR1B, SMAD3 and TRIM33. Interacts (via the MH2 domain) with ZFYVE9; may form trimers with the SMAD4 co-SMAD. Interacts with FOXH1, homeobox protein TGIF, PEBP2-alpha subunit, CREB-binding protein (CBP), EP300 and SKI. Interacts with SNON; when phosphorylated at Ser-465/467. Interacts with SKOR1 and SKOR2. Interacts with PRDM16. Interacts (via MH2 domain) with LEMD3. Interacts with RBPMS. Interacts with WWP1. 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 ot the TGF-beta signaling. Interacts with PDPK1 (via PH domain). Interacts with DAB2; the interactions are enhanced upon TGF-beta stimulation. Interacts with USP15.
INTERACTION: P05060:CHGB; NbExp=2; IntAct=EBI-1040141, EBI-712619; P98082:DAB2; NbExp=4; IntAct=EBI-1040141, EBI-1171238; Q9BZ29:DOCK9; NbExp=3; IntAct=EBI-1040141, EBI-2695893; P07197:NEFM; NbExp=3; IntAct=EBI-1040141, EBI-1105035; P61586:RHOA; NbExp=2; IntAct=EBI-1040141, EBI-446668; P84022:SMAD3; NbExp=2; IntAct=EBI-1040141, EBI-347161; Q13485:SMAD4; NbExp=12; IntAct=EBI-1040141, EBI-347263; Q9H3D4:TP63; NbExp=3; IntAct=EBI-1040141, EBI-2337775; Q9UPN9:TRIM33; NbExp=6; IntAct=EBI-1040141, EBI-2214398; O00308:WWP2; NbExp=4; IntAct=EBI-1040141, EBI-743923; Q96KR1:ZFR; NbExp=2; IntAct=EBI-1040141, EBI-2513582;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4. On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1.
TISSUE SPECIFICITY: Expressed at high levels in skeletal muscle, heart and placenta.
PTM: Phosphorylated on one or several of Thr-220, Ser-245, Ser- 250, and Ser-255. In response to TGF-beta, phosphorylated on Ser- 465/467 by TGF-beta and activin type 1 receptor kinases. Able to interact with SMURF2 when phosphorylated on Ser-465/467, recruiting other proteins, such as SNON, for degradation. In response to decorin, the naturally occurring inhibitor of TGF-beta signaling, phosphorylated on Ser-240 by CaMK2. Phosphorylated by MAPK3 upon EGF stimulation; which increases transcriptional activity and stability, and is blocked by calmodulin. Phosphorylated by PDPK1.
PTM: In response to TGF-beta, ubiquitinated by NEDD4L; which promotes its degradation (By similarity). Monoubiquitinated, leading to prevent DNA-binding. Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes.
PTM: Acetylated on Lys-19 by coactivators in response to TGF-beta signaling, which increases transcriptional activity. Isoform short: Acetylation increases DNA binding activity in vitro and enhances its association with target promoters in vivo. Acetylation in the nucleus by EP300 is enhanced by TGF-beta.
SIMILARITY: Belongs to the dwarfin/SMAD family.
SIMILARITY: Contains 1 MH1 (MAD homology 1) domain.
SIMILARITY: Contains 1 MH2 (MAD homology 2) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SMAD2ID370.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SMAD2
CDC HuGE Published Literature: SMAD2

-  MalaCards Disease Associations
  MalaCards Gene Search: SMAD2
Diseases sorted by gene-association score: smad2-related thoracic aortic aneurysms and aortic dissections* (100), keloids (12), ureteral disease (12), hypertrophic scars (12), buschke-ollendorff syndrome (11), melorheostosis (10), pauci-immune glomerulonephritis (9), osteopoikilosis (8), clear cell adenocarcinoma (7), pancreatic cancer (7), vitreous disease (7), penile disease (7), chagas disease (7), renal fibrosis (6), nephrogenic systemic fibrosis (6), colorectal cancer (6), diffuse pulmonary fibrosis (5), urinary tract obstruction (5), hereditary spastic paraplegia 3a (4), hypochondrogenesis (4), charcot-marie-tooth disease, type 1c (3), breast cancer (2), pulmonary fibrosis, idiopathic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.70 RPKM in Thyroid
Total median expression: 240.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -223.10400-0.558 Picture PostScript Text
3' UTR -2235.548732-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013790 - Dwarfin
IPR003619 - MAD_homology1_Dwarfin-type
IPR013019 - MAD_homology_MH1
IPR017855 - SMAD_dom-like
IPR001132 - SMAD_dom_Dwarfin-type
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF03165 - MH1 domain
PF03166 - MH2 domain

SCOP Domains:
49879 - SMAD/FHA domain
56366 - SMAD MH1 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1DEV
- X-ray MuPIT

1KHX
- X-ray MuPIT

1U7V
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2LB3 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q15796
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019902 phosphatase binding
GO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
GO:0031625 ubiquitin protein ligase binding
GO:0033613 activating transcription factor binding
GO:0034713 type I transforming growth factor beta receptor binding
GO:0035326 enhancer binding
GO:0042803 protein homodimerization activity
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0070410 co-SMAD binding
GO:0070411 I-SMAD binding
GO:0070412 R-SMAD binding
GO:0070878 primary miRNA binding
GO:0097718 disordered domain specific binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001657 ureteric bud development
GO:0001701 in utero embryonic development
GO:0001706 endoderm formation
GO:0001707 mesoderm formation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006468 protein phosphorylation
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007182 common-partner SMAD protein phosphorylation
GO:0007183 SMAD protein complex assembly
GO:0007352 zygotic specification of dorsal/ventral axis
GO:0007369 gastrulation
GO:0007389 pattern specification process
GO:0007492 endoderm development
GO:0007507 heart development
GO:0008285 negative regulation of cell proliferation
GO:0009749 response to glucose
GO:0009791 post-embryonic development
GO:0009880 embryonic pattern specification
GO:0009952 anterior/posterior pattern specification
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0016579 protein deubiquitination
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030073 insulin secretion
GO:0030324 lung development
GO:0030325 adrenal gland development
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0031016 pancreas development
GO:0031053 primary miRNA processing
GO:0032924 activin receptor signaling pathway
GO:0035019 somatic stem cell population maintenance
GO:0035265 organ growth
GO:0035556 intracellular signal transduction
GO:0038092 nodal signaling pathway
GO:0042060 wound healing
GO:0045165 cell fate commitment
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048340 paraxial mesoderm morphogenesis
GO:0048589 developmental growth
GO:0048617 embryonic foregut morphogenesis
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0051098 regulation of binding
GO:0060039 pericardium development
GO:0060395 SMAD protein signal transduction
GO:0070723 response to cholesterol
GO:1900224 positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032444 activin responsive factor complex
GO:0032991 macromolecular complex
GO:0071141 SMAD protein complex
GO:0071144 SMAD2-SMAD3 protein complex


-  Descriptions from all associated GenBank mRNAs
  HW061227 - JP 2012529430-A/102: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JB252035 - Sequence 102 from Patent EP2440214.
LP764934 - Sequence 102 from Patent EP3276004.
HW061228 - JP 2012529430-A/103: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JB252036 - Sequence 103 from Patent EP2440214.
LP764935 - Sequence 103 from Patent EP3276004.
HW061229 - JP 2012529430-A/104: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JB252037 - Sequence 104 from Patent EP2440214.
LP764936 - Sequence 104 from Patent EP3276004.
AY134745 - Homo sapiens medulloblastoma antigen MU-MB-50.13 mRNA, complete cds.
AK126373 - Homo sapiens cDNA FLJ44409 fis, clone TUTER2002356.
JD087203 - Sequence 68227 from Patent EP1572962.
JD262484 - Sequence 243508 from Patent EP1572962.
JD562070 - Sequence 543094 from Patent EP1572962.
JD556856 - Sequence 537880 from Patent EP1572962.
JD234056 - Sequence 215080 from Patent EP1572962.
JD234055 - Sequence 215079 from Patent EP1572962.
JD550230 - Sequence 531254 from Patent EP1572962.
JD562069 - Sequence 543093 from Patent EP1572962.
JD234052 - Sequence 215076 from Patent EP1572962.
JD417361 - Sequence 398385 from Patent EP1572962.
JD026495 - Sequence 7519 from Patent EP1572962.
JD022182 - Sequence 3206 from Patent EP1572962.
BC025699 - Homo sapiens SMAD family member 2, mRNA (cDNA clone MGC:34440 IMAGE:5221801), complete cds.
BC014840 - Homo sapiens SMAD family member 2, mRNA (cDNA clone MGC:22139 IMAGE:4449540), complete cds.
U68018 - Human mad protein homolog (hMAD-2) mRNA, complete cds.
JD301861 - Sequence 282885 from Patent EP1572962.
JD553995 - Sequence 535019 from Patent EP1572962.
U59911 - Human chromosome 18 Mad homolog JV18-1 mRNA, complete cds.
JD233080 - Sequence 214104 from Patent EP1572962.
JD085057 - Sequence 66081 from Patent EP1572962.
JD083966 - Sequence 64990 from Patent EP1572962.
JD245269 - Sequence 226293 from Patent EP1572962.
AF027964 - Homo sapiens MAD-related protein Smad2 mRNA, complete cds.
JD284158 - Sequence 265182 from Patent EP1572962.
U65019 - Human MAD-related protein 2 (MADR2) mRNA, complete cds.
AK312963 - Homo sapiens cDNA, FLJ93422, Homo sapiens MAD, mothers against decapentaplegic homolog 2(Drosophila) (MADH2), mRNA.
BT007422 - Homo sapiens MAD, mothers against decapentaplegic homolog 2 (Drosophila) mRNA, complete cds.
DQ891501 - Synthetic construct clone IMAGE:100004131; FLH177530.01X; RZPDo839B03126D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.
DQ893532 - Synthetic construct clone IMAGE:100006162; FLH164162.01X; RZPDo839D05162D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.
KJ891567 - Synthetic construct Homo sapiens clone ccsbBroadEn_00961 SMAD2 gene, encodes complete protein.
DQ893746 - Synthetic construct Homo sapiens clone IMAGE:100008206; FLH164158.01L; RZPDo839D05161D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.
DQ894693 - Synthetic construct Homo sapiens clone IMAGE:100009153; FLH177526.01L; RZPDo839B03125D SMAD, mothers against DPP homolog 2 (Drosophila) (SMAD2) gene, encodes complete protein.
AB463263 - Synthetic construct DNA, clone: pF1KB9891, Homo sapiens SMAD2 gene for SMAD family member 2, without stop codon, in Flexi system.
AK299218 - Homo sapiens cDNA FLJ50177 complete cds, highly similar to Mothers against decapentaplegic homolog 2(SMAD 2).
JD130666 - Sequence 111690 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04110 - Cell cycle
hsa04144 - Endocytosis
hsa04310 - Wnt signaling pathway
hsa04350 - TGF-beta signaling pathway
hsa04520 - Adherens junction
hsa05142 - Chagas disease
hsa05200 - Pathways in cancer
hsa05210 - Colorectal cancer
hsa05212 - Pancreatic cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_tgfbPathway - TGF beta signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q15796 (Reactome details) participates in the following event(s):

R-HSA-2176445 SMURF2 binds SMAD2
R-HSA-2187395 Dephosphorylated SMAD2/3 translocates to the cytosol
R-HSA-209055 PPM1A dephosphorylates nuclear SMAD2/3
R-HSA-173542 SMURF2 ubiquitinates SMAD2
R-HSA-170835 An anchoring protein, ZFYVE9 (SARA), recruits SMAD2/3
R-HSA-1181355 Phosphorylation of R-SMAD2/3 by NODAL receptor
R-HSA-1549526 Phosphorylation of SMAD2/3 by Activin:Activin Receptor
R-HSA-2187358 PMEPA1 sequesters unphosphorylated SMAD2/3
R-HSA-2187401 MTMR4 dephosphorylates SMAD2/3
R-HSA-480204 POU5F1 (OCT4), SOX2, NANOG, KLF4, PBX1, SMAD2 bind the NANOG promoter
R-HSA-1112609 POU5F1 (OCT4), SOX2, NANOG, ZSCAN10, PRDM14, SMAD2, FOXP1-ES bind the POU5F1 (OCT4) promoter
R-HSA-870449 TRIM33 monoubiquitinates SMAD4
R-HSA-170847 Phosphorylated SMAD2 and SMAD3 form a complex with SMAD4
R-HSA-2187355 PMEPA1 sequesters phosphorylated SMAD2/3
R-HSA-2187405 MTMR4 binds phosphorylated SMAD2/3
R-HSA-170850 Phosphorylated SMAD2/3 dissociates from TGFBR
R-HSA-170868 Activated type I receptor phosphorylates SMAD2/3 directly
R-HSA-6781764 USP15 deubiquitinates SMAD1,SMAD2,SMAD3, SMAD7:SMURF,KEAP1
R-HSA-173481 SKI/SKIL binds SMAD complex, suppressing TGF-beta signaling
R-HSA-870538 TRIM33 (Ectodermin) binds SMAD heterotrimer in the nucleus
R-HSA-1225919 Phospho R-SMAD(SMAD2/3):CO-SMAD(SMAD4):FOXH1 binds Activin Response Element
R-HSA-1535903 Phospho R-SMAD(SMAD2/3):CO-SMAD(SMAD4):FOXO3 binds FoxO3a-binding elements
R-HSA-2127257 SMAD2/3:SMAD4 heterotrimer forms a complex with RBL1, E2F4/5 and DP1/2
R-HSA-2176475 Phosphorylation of SMAD2 and SMAD3 linker regions by CDK8 or CDK9
R-HSA-2186607 TGIF recruits HDAC1 to SMAD2/3:SMAD4 heterotrimer
R-HSA-2186643 MEN1 binds SMAD2/3:SMAD4 heterotrimer
R-HSA-2187309 SMAD2/3:SMAD4 heterotrimer binds SP1
R-HSA-2187330 PARP1 binds SMAD2/3:SMAD4 heterotrimer
R-HSA-2187388 PPM1A protein phosphatase binds phosphorylated SMAD2/3
R-HSA-173488 The SMAD2/3:SMAD4 complex transfers to the nucleus
R-HSA-2186747 Ubiquitination of SKI/SKIL by RNF111/SMURF2
R-NUL-2186755 Ubiquitination of SKI/SKIL by Rnf111
R-HSA-2187325 PARP1 ADP-ribosylates SMAD3 and SMAD4
R-HSA-2031355 WWTR1 binds SMAD2/3:SMAD4 heterotrimer
R-HSA-2176491 NEDD4L binds phosphorylated linker region of SMAD2/3
R-HSA-2179274 SMURF2 binds SMAD3 phosphorylated in the linker region
R-HSA-2179276 SMURF2 monoubiquitinates SMAD3
R-HSA-3713560 An anchoring protein, ZFYVE9 (SARA), recruits SMAD2/3 phosphorylation motif mutants
R-HSA-3702186 Phosphorylated SMAD2/3 MH2 domain mutants dissociate from TGFBR
R-HSA-3702153 An anchoring protein, ZFYVE9 (SARA), recruits SMAD2/3 MH2 domain mutants
R-NUL-2186736 Rnf111 binds SKI/SKIL in complex with SMAD2/3:SMAD4 upon TGF-beta stimulation
R-HSA-2186741 SMAD2/3 activation induces binding of RNF111/SMURF2 to SKI/SKIL
R-HSA-2106579 WWTR1:SMAD translocates to the nucleus
R-HSA-2176502 NEDD4L ubiquitinates SMAD2/3
R-HSA-3702184 Activated type I receptor phosphorylates SMAD2/3 MH2 domain mutants directly
R-HSA-2173788 Downregulation of TGF-beta receptor signaling
R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity
R-HSA-2173789 TGF-beta receptor signaling activates SMADs
R-HSA-1181150 Signaling by NODAL
R-HSA-1502540 Signaling by Activin
R-HSA-3656532 TGFBR1 KD Mutants in Cancer
R-HSA-452723 Transcriptional regulation of pluripotent stem cells
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-3311021 SMAD4 MH2 Domain Mutants in Cancer
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-1266738 Developmental Biology
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-3656534 Loss of Function of TGFBR1 in Cancer
R-HSA-5689880 Ub-specific processing proteases
R-HSA-3304347 Loss of Function of SMAD4 in Cancer
R-HSA-3304356 SMAD2/3 Phosphorylation Motif Mutants in Cancer
R-HSA-3315487 SMAD2/3 MH2 Domain Mutants in Cancer
R-HSA-212436 Generic Transcription Pathway
R-HSA-162582 Signal Transduction
R-HSA-3304351 Signaling by TGF-beta Receptor Complex in Cancer
R-HSA-5688426 Deubiquitination
R-HSA-3304349 Loss of Function of SMAD2/3 in Cancer
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-5663202 Diseases of signal transduction
R-HSA-597592 Post-translational protein modification
R-HSA-74160 Gene expression (Transcription)
R-HSA-1643685 Disease
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: MADH2, MADR2, NM_001003652, NP_005892, Q15796, SMAD2_HUMAN, uc002lcz.3
UCSC ID: uc002lcz.4
RefSeq Accession: NM_001003652
Protein: Q15796 (aka SMAD2_HUMAN or SMA2_HUMAN)
CCDS: CCDS11934.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SMAD2:
loeys-dietz (Loeys-Dietz Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001003652.3
exon count: 11CDS single in 3' UTR: no RNA size: 10551
ORF size: 1404CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3008.00frame shift in genome: no % Coverage: 99.86
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.