Aliases for SMAD2 Gene
Aliases for SMAD2 Gene
External Ids for SMAD2 Gene
- HGNC: 6768
- Entrez Gene: 4087
- Ensembl: ENSG00000175387
- OMIM: 601366
- UniProtKB: Q15796
Previous HGNC Symbols for SMAD2 Gene
- MADH2
Previous GeneCards Identifiers for SMAD2 Gene
- GC18M043620
- GC18M043621
- GC18M045357
- GC18M042208
Summaries for SMAD2 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 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]
GeneCards Summary for SMAD2 Gene
SMAD2 (SMAD Family Member 2) is a Protein Coding gene. Diseases associated with SMAD2 include Melorheostosis and Hypertrophic Scars. Among its related pathways are HTLV-I infection and Signaling by NODAL. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is SMAD1.
UniProtKB/Swiss-Prot for SMAD2 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 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.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD2 Gene
Genomics for SMAD2 Gene
Regulatory Elements for SMAD2 Gene
Enhancers for SMAD2 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around SMAD2 on UCSC Golden Path with GeneCards custom track
Promoters for SMAD2 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around SMAD2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SMAD2 gene promoter:
Regulatory Element Products
Genomic Location for SMAD2 Gene
- Chromosome:
- 18
- Start:
- 47,808,957 bp from pter
- End:
- 47,931,193 bp from pter
- Size:
- 122,237 bases
- Orientation:
- Minus strand
Genomic View for SMAD2 Gene
Genes around SMAD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.1 by Ensembl
- 18q21.1 by Entrez Gene
- 18q21 by HGNC
SMAD2 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 SMAD2 Gene
Proteins for SMAD2 Gene
-
Protein details for SMAD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15796-SMAD2_HUMAN
- Recommended name:
- Mothers against decapentaplegic homolog 2
- Protein Accession:
- Q15796
Protein attributes for SMAD2 Gene
- Size:
- 467 amino acids
- Molecular mass:
- 52306 Da
- Quaternary structure:
-
- 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, SKI and SNW1. 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 of the TGF-beta signaling. Interacts with PDPK1 (via PH domain). Interacts with DAB2; the interactions are enhanced upon TGF-beta stimulation. Interacts with USP15. Interacts with PPP5C. Interacts with ZNF580. Interacts with LDLRAD4 (via the SMAD interaction motif). Interacts (via MH2 domain) with PMEPA1 (via the SMAD interaction motif). Interacts with ZFHX3. Interacts with ZNF451 (PubMed:24324267). Identified in a complex that contains at least ZNF451, SMAD2, SMAD3 and SMAD4 (PubMed:24324267).
Three dimensional structures from OCA and Proteopedia for SMAD2 Gene
Protein Expression for SMAD2 Gene
Post-translational modifications for SMAD2 Gene
- 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.
- 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.
- 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. TGF-beta-induced Ser-465/467 phosphorylation declines progressively in a KMT5A-dependent manner. 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.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SMAD2 Gene
Antibody Products
- EMD Millipore top SMAD2 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for SMAD2
- R&D Systems Antibodies for SMAD2 (Smad2)
- Cell Signaling Technology (CST) Antibodies for SMAD2 (SMAD2)
- Novus Biologicals Antibodies for SMAD2
- Abcam antibodies for Smad2
-
Cloud-Clone Corp. Antibodies for SMAD2
- Invitrogen Antibodies for SMAD2
- antibodies-online Antibodies for SMAD2: See all 422
- GeneTex SMAD2 antibody for SMAD2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMAD2
- Smad2/3 (N-19)
- Smad2/3 (N-19) X
- Smad2/3 (E-20)
- Smad2/3 (E-20) X
- Smad2 (S-20)
- Smad2 (S-20) X
- Smad1/2/3 (H-2)
- Smad1/2/3 (H-2) X
- p-Smad2/3 (Ser 423/425)
- p-Smad2/3 (Ser 423/425) X
- p-Smad2/3 (Ser 423/425)-R
- Smad2 (YZ-13)
- p-Smad2 (Ser 467)
- p-Smad2 (Thr 220)
- Smad2/3 (E-1)
- Smad2/3 (E-1) X
- Smad2 (A-11)
- Smad2 (A-11) X
- Smad2/3 (A-3)
- Smad2/3 (A-3) X
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD2
- Origene Custom Protein Services for SMAD2
- Sino Biological Cell Lysates for SMAD2
- Browse Sino Biological Proteins
- ProSpec Recombinant Proteins for SMAD2
-
Cloud-Clone Corp. Proteins for SMAD2
- antibodies-online Proteins for SMAD2: See all 31
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SMAD2
- Abcam proteins for Smad2
Assay Products
- Cell Signaling Technology (CST) Sandwich ELISA Kits for SMAD2 (SMAD2)
-
Cloud-Clone Corp Assay Kits for SMAD2
- antibodies-online Kits for SMAD2: See all 31
No data available for DME Specific Peptides for SMAD2 Gene
Domains & Families for SMAD2 Gene
Gene Families for SMAD2 Gene
- HGNC:
Protein Domains for SMAD2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMAD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q15796UniProtKB/Swiss-Prot:
SMAD2_HUMAN :- Contains 1 MH1 (MAD homology 1) domain.
- Belongs to the dwarfin/SMAD family.
- Domain:
-
- Contains 1 MH1 (MAD homology 1) domain.
- Contains 1 MH2 (MAD homology 2) domain.
- Family:
-
- Belongs to the dwarfin/SMAD family.
Function for SMAD2 Gene
Molecular function for SMAD2 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 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 9389648 |
| GO:0030618 | transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity | IDA | 9256479 |
| GO:0033613 | activating transcription factor binding | IPI | 11160896 |
| GO:0046332 | SMAD binding | IPI | 11160896 |
| GO:0070410 | co-SMAD binding | IPI | 9111321 |
Phenotypes for SMAD2 Gene
- MGI mutant phenotypes for SMAD2:
-
inferred from 21 alleles
- cellular phenotype
- mortality/aging
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- liver/biliary system phenotype
- normal phenotype
- immune system phenotype
- cardiovascular system phenotype
- integument phenotype
- growth/size/body region phenotype
- hematopoietic system phenotype
- tumorigenesis
- homeostasis/metabolism phenotype
- digestive/alimentary phenotype
- respiratory system phenotype
- embryo phenotype
- nervous system phenotype
- vision/eye phenotype
- skeleton phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for SMAD2:
-
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- shRNA abundance <= 50%
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Synthetic lethal with vaccinia virus (VACV) infection
- Weakly decreased NFAT1-GFP nuclear translocation
- Decreased shRNA abundance (Z-score < -2)
- Increased mitotic index
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased vesicular stomatitis virus (VSV) infection
Animal Models for SMAD2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for SMAD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD2 gene
- Search ViGene Biosciences for SMAD2
CRISPR Products
-
OriGene CRISPR knockouts for SMAD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD2
- GenScript: Design CRISPR guide RNA sequences for SMAD2
miRNA for SMAD2 Gene
- miRTarBase miRNAs that target SMAD2
-
- hsa-mir-155-5p (MIRT005872)
- mdv1-mir-m3-5p (MIRT006011)
- hsa-mir-200a-3p (MIRT007290)
- hsa-mir-200b-3p (MIRT007322)
- hsa-mir-652-3p (MIRT039468)
- hsa-mir-484 (MIRT042141)
- hsa-mir-324-5p (MIRT043212)
- hsa-mir-624-3p (MIRT053419)
- hsa-mir-148a-3p (MIRT053560)
- hsa-mir-181a-5p (MIRT053687)
- hsa-mir-188-5p (MIRT053699)
- hsa-let-7g-5p (MIRT054664)
- hsa-mir-146a-5p (MIRT054772)
- hsa-mir-18a-5p (MIRT387526)
- hsa-mir-18b-5p (MIRT387527)
- hsa-mir-192-3p (MIRT495410)
- hsa-mir-6501-5p (MIRT495411)
- hsa-mir-3613-3p (MIRT495412)
- hsa-mir-495-5p (MIRT495414)
- hsa-mir-6891-3p (MIRT612462)
- hsa-mir-6072 (MIRT612463)
- hsa-mir-1228-3p (MIRT612464)
- hsa-mir-8485 (MIRT612465)
- hsa-mir-329-3p (MIRT612466)
- hsa-mir-362-3p (MIRT612467)
- hsa-mir-503-5p (MIRT628988)
- hsa-mir-642a-5p (MIRT666206)
- hsa-mir-196a-3p (MIRT666207)
- hsa-mir-4469 (MIRT666208)
- hsa-mir-372-5p (MIRT666209)
- hsa-mir-371a-5p (MIRT666210)
- hsa-mir-2276-5p (MIRT666211)
- hsa-mir-6892-3p (MIRT666212)
- hsa-mir-106a-3p (MIRT699167)
- hsa-mir-937-5p (MIRT699168)
- hsa-mir-505-3p (MIRT699169)
- hsa-mir-5702 (MIRT699170)
- hsa-mir-203a-3p (MIRT699171)
- hsa-mir-1324 (MIRT699172)
- hsa-mir-5680 (MIRT699173)
- hsa-mir-548g-3p (MIRT699174)
- hsa-mir-548av-3p (MIRT699175)
- hsa-mir-374a-3p (MIRT724464)
- hsa-mir-5089-3p (MIRT724465)
- hsa-mir-361-5p (MIRT724466)
- hsa-mir-6744-3p (MIRT724467)
- hsa-mir-4757-5p (MIRT724468)
- hsa-mir-4502 (MIRT724469)
- hsa-mir-2115-3p (MIRT724470)
- hsa-mir-27a-3p (MIRT726493)
- hsa-mir-27b-3p (MIRT726494)
Targeted motifs for SMAD2 Gene
HOMER Transcription Factor Regulatory Elements motif SMAD2
- Consensus sequence: CTGTCTGG Submotif: canonical Cell Type: ES GEO ID: GSE29422
miRNA Products
- Search ViGene Biosciences for SMAD2
Clone Products
- OriGene clones in human for SMAD2
- OriGene ORF clones in human,mouse,rat for SMAD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMAD2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SMAD2
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for SMAD2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SMAD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD2 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12082) for SMAD2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for SMAD2 Gene
Localization for SMAD2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMAD2 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:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). {ECO:0000269 PubMed:16751101, ECO:0000269 PubMed:19289081, ECO:0000269 PubMed:9865696}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 5 |
| cytoskeleton | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| plasma membrane | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005667 | transcription factor complex | IEA,IDA | 17438144 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for SMAD2 Gene
More details on SuperPathways for SMAD2Pathways by source for SMAD2 Gene
1 Sino Biological pathway for SMAD2 Gene
2 GeneTex pathways for SMAD2 Gene
1 Cell Signaling Technology pathway for SMAD2 Gene
13 BioSystems pathways for SMAD2 Gene
23 Reactome pathways for SMAD2 Gene
15 KEGG pathways for SMAD2 Gene
5 GeneGo (Thomson Reuters) pathways for SMAD2 Gene
2 R&D Systems pathways for SMAD2 Gene
Interacting Proteins for SMAD2 Gene
Selected Interacting proteins:
Q15796-SMAD2_HUMAN
ENSP00000262160
for SMAD2 Gene via
MINT
STRING
UniProtKB
I2D
SIGNOR curated interactions for SMAD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | TAS | -- |
| GO:0001657 | ureteric bud development | IEA | -- |
| GO:0001706 | endoderm formation | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription from RNA polymerase II promoter | IDA | 9389648 |
Drugs & Compounds for SMAD2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phosphonoserine | Experimental | Pharma | Target | 0 | ||
| Pirfenidone | Investigational | Pharma | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 45 | ||
| LDN193189 Hydrochloride | Pharma | ALK inhibitor,potent and selective | 0 | |||
| LY364947 | Pharma | Selective inhibitor of TGF-betaRI | 0 | |||
| RepSox | Pharma | ALK5 inhibitor,potent and selective | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) ApexBio Compounds for SMAD2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| LDN193189 Hydrochloride | ALK inhibitor,potent and selective | 1062368-62-0 |
| LY364947 | 396129-53-6 | |
| Pirfenidone | TGF-β production inhibitor | 53179-13-8 |
| RepSox | ALK5 inhibitor,potent and selective | 446859-33-2 |
Drug Products
- ApexBio compounds for SMAD2
Transcripts for SMAD2 Gene
mRNA/cDNA for SMAD2 Gene
- (9) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (247) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SMAD2 Gene
- SMAD family member 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SMAD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD2
- GenScript: Design CRISPR guide RNA sequences for SMAD2
miRNA Products
- Search ViGene Biosciences for SMAD2
Clone Products
- OriGene clones in human for SMAD2
- OriGene ORF clones in human,mouse,rat for SMAD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMAD2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for SMAD2
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12082) for SMAD2
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - |
| ExUns: | 15 | ^ | 16 | ^ | 17a | · | 17b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: | |||||||
| SP11: | |||||||
| SP12: | |||||||
| SP13: |
Expression for SMAD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Primitive Streak (Early Embryonic Tissues)
- Primitive Streak Cells Anterior Primitive Streak
- Endoderm Progenitor Cells Anterior Primitive Streak
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Epiblast (Early Embryo)
- Primitive Streak Cells Anterior Primitive Streak
- Extraembryonic Mural Cells Extraembryonic Mesoderm
- Brain (Nervous System)
-
Endoderm (Gastrulation Derivatives)
- Endoderm Progenitor Cells Anterior Primitive Streak
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
- Neural Tube (Nervous System)
- Liver (Hepatobiliary System)
-
Colon (Gastrointestinal Tract)
-
Thyroid (Endocrine System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
This gene is overexpressed in Breast (27.7) and Peripheral blood mononuclear cells (9.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMAD2 Gene
SOURCE GeneReport for Unigene cluster for SMAD2 Gene Hs.12253
mRNA Expression by UniProt/SwissProt for SMAD2 Gene
Q15796-SMAD2_HUMAN
Tissue specificity:
Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for SMAD2
-
OriGene qPCR primer pairs and template standards for SMAD2
No data available for mRNA differential expression in normal tissues for SMAD2 Gene
Orthologs for SMAD2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | SMAD2 35 |
|
||
| SMAD2 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | SMAD2 35 |
|
||
| SMAD2 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Smad2 35 |
|
||
| Smad2 16 |
|
||||
| Smad2 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | SMAD2 35 |
|
||
| SMAD2 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Smad2 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SMAD2 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SMAD2 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SMAD2 35 |
|
||
| -- 36 |
|
OneToMany | |||
| MADH2 36 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | SMAD2 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smad2 35 |
|
||
| Str.11098 35 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.85 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | madh2 35 |
|
||
| smad2 35 |
|
||||
| smad2 36 |
|
OneToOne | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3591 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Smox 36 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | sma-2 36 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.560 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
ManyToMany | |
| -- 36 |
|
ManyToMany |
- Species with no ortholog for SMAD2:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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 SMAD2 Gene
(6) SIMAP similar genes for SMAD2 Gene using alignment to 7 proteins:
Variants for SMAD2 Gene
| SNP ID | Clin | Chr 18 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_011375 | A colorectal carcinoma sample | ||||
| VAR_011377 | A colorectal carcinoma sample | ||||
| VAR_011378 | A colorectal carcinoma sample | ||||
| VAR_011379 | A colorectal carcinoma sample | ||||
| VAR_036473 | A colorectal cancer sample |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv132205 | CNV | Loss | 16902084 |
| esv1323042 | CNV | Insertion | 17803354 |
| esv2627568 | CNV | Deletion | 19546169 |
| esv2717053 | CNV | Deletion | 23290073 |
| esv2667321 | CNV | Deletion | 23128226 |
| nsv909614 | CNV | Loss | 21882294 |
| nsv2288 | CNV | Insertion | 18451855 |
| nsv909615 | CNV | Loss | 21882294 |
Residual Variation Intolerance Score:
14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.15;
3.43% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SMAD2 Gene
- Human Gene Mutation Database (HGMD)
- SMAD2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD2 Gene
Disorders for SMAD2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| melorheostosis |
|
|
| hypertrophic scars |
|
|
| buschke-ollendorff syndrome |
|
|
| ureteral disease |
|
|
| penile disease |
|
|
Search SMAD2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for SMAD2
No data available for UniProtKB/Swiss-Prot and Genatlas for SMAD2 Gene
Publications for SMAD2 Gene
- Mad-related genes in the human. (PMID: 8673135) Riggins G.J. … Vogelstein B.V. (Nat. Genet. 1996) 2 3 4 67
- Ski co-repressor complexes maintain the basal repressed state of the TGF-beta target gene, SMAD7, via HDAC3 and PRMT5. (PMID: 19032343) Tabata T. … Ishii S. (Genes Cells 2009) 3 23
- CDK2 phosphorylation of Smad2 disrupts TGF-beta transcriptional regulation in resistant primary bone marrow myeloma cells. (PMID: 19201832) Baughn L.B. … Chen-Kiang S. (J. Immunol. 2009) 3 23
- Angiotensin II activates connective tissue growth factor and induces extracellular matrix changes involving Smad/activation and p38 mitogen-activated protein kinase signalling pathways in human dermal fibroblasts. (PMID: 19397700) Zhang G.Y. … Gao W.Y. (Exp. Dermatol. 2009) 3 23
- Transforming growth factor-beta1 up-regulation of human alpha(1)(I) collagen is mediated by Sp1 and Smad2 transacting factors. (PMID: 19558215) Sysa P. … Mezey E. (DNA Cell Biol. 2009) 3 23
Products for SMAD2 Gene
- R&D Systems Antibodies for SMAD2 (Smad2)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for SMAD2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD2
- Origene Custom Protein Services for SMAD2
- Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for SMAD2
- Browse OriGene Inhibitory RNA Products For SMAD2
- OriGene qPCR primer pairs for SMAD2
- OriGene qPCR primer pairs and template standards for SMAD2
- OriGene CRISPR knockouts for SMAD2
- OriGene clones in human for SMAD2
- OriGene ORF clones in human,mouse,rat for SMAD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- GenScript: Next-day shipping cDNA clones in your preferred vector
- GenScript Custom Purified and Recombinant Proteins Services for SMAD2
- GenScript Custom Assay Services for SMAD2
- GenScript Custom overexpressing Cell Line Services for SMAD2
- GenScript: Design CRISPR guide RNA sequences for SMAD2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SMAD2
- Cell Signaling Technology (CST) Antibodies for SMAD2 (SMAD2)
- Cell Signaling Technology (CST) Sandwich ELISA Kits for SMAD2 (SMAD2)
- Search for Antibodies & Assays
- Novus Biologicals Antibodies for SMAD2
- Novus Biologicals proteins and lysates for SMAD2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for Smad2
- Abcam proteins for Smad2
- Search for Assays for SMAD2 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- ProSpec Recombinant Proteins for SMAD2
- Cloud-Clone Corp. Antibodies for SMAD2
- Cloud-Clone Corp. Proteins for SMAD2
- Cloud-Clone Corp Assay Kits for SMAD2
- Invitrogen Antibodies for SMAD2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for SMAD2
- Addgene plasmids for SMAD2
- antibodies-online Antibodies for SMAD2: See all 422
- antibodies-online Kits for SMAD2: See all 31
- antibodies-online Proteins for SMAD2: See all 31
- Search antibodies-online for peptides
- GeneTex SMAD2 antibody for SMAD2
- Search GeneTex for Proteins for SMAD2
- ViGene Biosciences adenoviral particle packaged cDNA for SMAD2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SMAD2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SMAD2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SMAD2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SMAD2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SMAD2 gene
- Search ViGene Biosciences for SMAD2
- Search ViGene Biosciences for SMAD2
- Santa Cruz Biotechnology (SCBT) Antibodies for SMAD2
- Smad2/3 (N-19)
- Smad2/3 (N-19) X
- Smad2/3 (E-20)
- Smad2/3 (E-20) X
- Smad2 (S-20)
- Smad2 (S-20) X
- Smad1/2/3 (H-2)
- Smad1/2/3 (H-2) X
- p-Smad2/3 (Ser 423/425)
- p-Smad2/3 (Ser 423/425) X
- p-Smad2/3 (Ser 423/425)-R
- Smad2 (YZ-13)
- p-Smad2 (Ser 467)
- p-Smad2 (Thr 220)
- Smad2/3 (E-1)
- Smad2/3 (E-1) X
- Smad2 (A-11)
- Smad2 (A-11) X
- Smad2/3 (A-3)
- Smad2/3 (A-3) X
- Search Santa Cruz Biotechnology (SCBT) for SMAD2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMAD2
Sources for SMAD2 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
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon