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This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in t... See more...
Aliases for SMAD4 Gene
Aliases for SMAD4 Gene
- SMAD Family Member 4 2 3 4 5
- DPC4 2 3 4
- Mothers Against Decapentaplegic Homolog 4 3 4
- Deletion Target In Pancreatic Carcinoma 4 3 4
- MAD Homolog 4 3 4
- MADH4 3 4
- MAD, Mothers Against Decapentaplegic Homolog 4 (Drosophila) 2
- Mothers Against Decapentaplegic, Drosophila, Homolog Of, 4 3
- SMAD, Mothers Against DPP Homolog 4 (Drosophila) 2
External Ids for SMAD4 Gene
- HGNC: 6770
- Entrez Gene: 4089
- Ensembl: ENSG00000141646
- OMIM: 600993
- UniProtKB: Q13485
Previous HGNC Symbols for SMAD4 Gene
- MADH4
Previous GeneCards Identifiers for SMAD4 Gene
- GC18P046809
- GC18P046810
- GC18P048556
- GC18P045411
- GC18P048494
Summaries for SMAD4 Gene
-
This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]
GeneCards Summary for SMAD4 Gene
SMAD4 (SMAD Family Member 4) is a Protein Coding gene. Diseases associated with SMAD4 include Myhre Syndrome and Juvenile Polyposis Syndrome. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Signal transduction_PKA signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is SMAD1.
UniProtKB/Swiss-Prot Summary for SMAD4 Gene
-
In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling (PubMed:25514493). Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD4/JUN/FOS complex which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. May act as a tumor suppressor. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
Additional gene information for SMAD4 Gene
- HGNC(6770)
- Entrez Gene(4089)
- Ensembl(ENSG00000141646)
- OMIM(600993)
- UniProtKB(Q13485)
- Open Targets Platform(ENSG00000141646)
- Monarch Initiative
- Search for SMAD4 at DataMed
- Search for SMAD4 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMAD4 Gene
Genomics for SMAD4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SMAD4 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH18J051027 | Promoter/Enhancer | 1.6 | Ensembl ENCODE CraniofacialAtlas | 600.7 | +2.0 | 1952 | 5.3 | HNRNPL PRDM10 ZNF692 POLR2A BACH1 FOXA1 LARP7 PRDM1 PHF21A ZIC2 | LOC105372117 NONHSAG023864.2 SMAD4 lnc-MEX3C-4 ME2 RPL17P46 MRO lnc-SMAD4-2 ENSG00000267699 MEX3C | |
| GH18J051049 | Promoter/Enhancer | 1.1 | EPDnew Ensembl ENCODE | 600.4 | +23.3 | 23317 | 5.4 | CTCF PRDM1 ZNF143 RXRB REST RAD21 TRIM22 RELB SMC3 ELF1 | SMAD4 RPL17P46 MRO ME2 HSALNG0121563 LOC105372117 ENSG00000267699 MEX3C | |
| GH18J051028 | Promoter | 0.3 | Ensembl | 600.7 | -0.9 | -893 | 0.2 | SMAD4 lnc-SMAD4-2 ME2 LOC105372117 ENSG00000267699 | ||
| GH18J051048 | Promoter | 0.3 | EPDnew | 600.4 | +20.3 | 20284 | 0.1 | SMAD4 MRO RPL17P46 HSALNG0121563 LOC105372117 ENSG00000267699 MEX3C | ||
| GH18J051058 | Promoter | 0.3 | EPDnew | 600.3 | +29.7 | 29735 | 0.1 | SMAD4 HSALNG0121563 LOC105372117 ENSG00000267699 MEX3C |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMAD4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMAD4
- Top Transcription factor binding sites by QIAGEN in the SMAD4 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- Nkx2-5
Genomic Locations for SMAD4 Gene
Genomic Locations for SMAD4 Gene
- chr18:51,028,394-51,085,045
- (GRCh38/hg38)
- Size:
- 56,652 bases
- Orientation:
- Plus strand
- chr18:48,494,410-48,611,415
- (GRCh37/hg19)
- Size:
- 117,006 bases
- Orientation:
- Plus strand
Genomic View for SMAD4 Gene
Genes around SMAD4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.2 by HGNC
- 18q21.2 by Entrez Gene
- 18q21.2 by Ensembl
SMAD4 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 SMAD4 Gene
Proteins for SMAD4 Gene
-
Protein details for SMAD4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13485-SMAD4_HUMAN
- Recommended name:
- Mothers against decapentaplegic homolog 4
- Protein Accession:
- Q13485
- A8K405
Protein attributes for SMAD4 Gene
- Size:
- 552 amino acids
- Molecular mass:
- 60439 Da
- Quaternary structure:
-
- Found in a complex with SMAD1 and YY1 (By similarity). Interacts with CITED2 (By similarity). Monomer; in the absence of TGF-beta activation. Heterodimer; on TGF-beta activation. Composed of two molecules of a C-terminally phosphorylated R-SMAD molecule, SMAD2 or SMAD3, and one molecule of SMAD4 to form the transcriptional active SMAD2/SMAD3-SMAD4 complex. Found in a ternary complex composed of SMAD4, STK11/LKB1 and STK11IP. Interacts with ATF2, COPS5, DACH1, MSG1, SKI, STK11/LKB1, STK11IP and TRIM33. Interacts with ZNF423; the interaction takes place in response to BMP2 leading to activation of transcription of BMP target genes. Interacts with ZNF521; the interaction takes place in response to BMP2 leading to activation of transcription of BMP target genes. Interacts with USP9X. Interacts (via the MH1 and MH2 domains) with RBPMS. Interacts with WWTR1 (via coiled-coil domain). Component of the multimeric complex SMAD3/SMAD4/JUN/FOS which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. Interacts with CITED1. Interacts with PDPK1 (via PH domain) (By similarity). Interacts with VPS39; this interaction affects heterodimer formation with SMAD3, but not with SMAD2, and leads to inhibition of SMAD3-dependent transcription activation. Interactions with VPS39 and SMAD2 may be mutually exclusive. Interacts with ZC3H3 (By similarity). Interacts (via MH2 domain) with ZNF451 (via N-terminal zinc-finger domains) (PubMed:24324267). Identified in a complex that contains at least ZNF451, SMAD2, SMAD3 and SMAD4 (PubMed:24324267). Interacts weakly with ZNF8 (PubMed:12370310). Interacts with NUP93 and IPO7; translocates SMAD4 to the nucleus through the NPC upon BMP7 stimulation resulting in activation of SMAD4 signaling (PubMed:26878725). Interacts with CREB3L1, the interaction takes place upon TGFB1 induction and SMAD4 acts as CREB3L1 coactivator to induce the expression of genes involved in the assembly of collagen extracellular matrix (PubMed:25310401). Interacts with DLX1 (PubMed:14671321). Interacts with ZBTB7A; the interaction is direct and stimulated by TGFB1 (PubMed:25514493). Interacts with CREBBP; the recruitment of this transcriptional coactivator is negatively regulated by ZBTB7A (PubMed:25514493). Interacts with EP300; the interaction with this transcriptional coactivator is negatively regulated by ZBTB7A (PubMed:25514493). Interacts with HDAC1 (PubMed:25514493). Interacts (via MH2 domain) with ZMIZ1 (via SP-RING-type domain); in the TGF-beta signaling pathway increases the activity of the SMAD3/SMAD4 transcriptional complex (PubMed:16777850).
Protein Expression for SMAD4 Gene
Post-translational modifications for SMAD4 Gene
- Phosphorylated by PDPK1.
- Monoubiquitinated on Lys-519 by E3 ubiquitin-protein ligase TRIM33. Monoubiquitination hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiquitination by USP9X restores its competence to mediate TGF-beta signaling.
-
Ubiquitination at Lys113 and Lys519
- NX_Q13485 (NX_Q13485-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SMAD4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents SMAD4 Antibody
- Creative Diagnostics Anti-SMAD4 monoclonal antibody, clone 5H2D7
-
Creative Biolabs
- Recombinant Anti-Human SMAD4 Antibody
- Mouse Anti-SMAD4 Recombinant Antibody (CBXS-4297)
- Mouse Anti-SMAD4 Recombinant Antibody (2B3)
- Mouse Anti-SMAD4 Recombinant Antibody (1A2)
- Mouse Anti-SMAD4 Recombinant Antibody (3H1)
- Rabbit Anti-SMAD4 Recombinant Antibody (D3R4N)
- Mouse Anti-SMAD4 Recombinant Antibody (3E2)
- Recombinant Rabbit Anti-SMAD4 Monoclonal Antibody (CBACN-513)
-
Custom Antibody ServicesOriGene Antibodies for SMAD4
- Novus Biologicals Antibodies for SMAD4
-
Abcam antibodies for SMAD4
- Invitrogen Antibodies for SMAD4 (AFLGC-SMAD4)
- antibodies-online: Show 44 available SMAD4 Antibodies ranked by validation data
- Compare Top SMAD4 Antibodies
-
Recommended
- 210 WB Antibodies (anti-human)
- 8 FACS Antibodies (anti-human)
- 5 IP Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 DB Antibody (anti-human)
- 1 ICC Antibody (anti-human)
- 74 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 1 IP Antibody (anti-mouse)
- 62 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMAD4
Protein Products
- G Biosciences Human SMAD4/SMAD family member 4, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD4
- Origene Custom Protein Services for SMAD4
- ProSpec Recombinant Proteins for SMAD4
-
ProSci Proteins for SMAD4
-
Abcam proteins for SMAD4
Assay Products
- Novus Biologicals ELISA Kits for SMAD4
- antibodies-online: Show 54 available SMAD4 Elisa Kits ranked by validation data
- Compare Top SMAD4 Elisa Kits
-
Quality Products:
- ABIN1116031
- ABIN417398
- ABIN366606
- ABIN1572449
- ABIN5525087
- ABIN5669489
- ABIN5594932
- ABIN511600
- ABIN1381505
- ABIN6386153
- ABIN1117131
- ABIN5594933
- ABIN773766
- ABIN6231191
- ABIN6231192
- ABIN2685493
- ABIN1143175
- ABIN432417
- ABIN1116032
- ABIN5525088
- ABIN772430
- ABIN5656969
- ABIN6231195
- ABIN6231196
- ABIN2949578
- ABIN6231197
- ABIN1056241
- ABIN1564282
- ABIN6231190
-
Boster Bio ELISA Kits for SMAD4
-
Signalway ELISA kits for SMAD4
-
Abcam assays for SMAD4
No data available for DME Specific Peptides for SMAD4 Gene
Domains & Families for SMAD4 Gene
Gene Families for SMAD4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SMAD4 Gene
- InterPro:
- Blocks:
-
- Dwarfin protein
- ProtoNet:
Suggested Antigen Peptide Sequences for SMAD4 Gene
- GenScript: Design optimal peptide antigens:
-
- SMAD family member 4 (SMAD4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13485UniProtKB/Swiss-Prot:
SMAD4_HUMAN :- The MH1 domain is required for DNA binding.
- Belongs to the dwarfin/SMAD family.
- Domain:
-
- The MH1 domain is required for DNA binding.
- The MH2 domain is required for both homomeric and heteromeric interactions and for transcriptional regulation. Sufficient for nuclear import.
- Family:
-
- Belongs to the dwarfin/SMAD family.
Function for SMAD4 Gene
Molecular function for SMAD4 Gene
- UniProtKB/Swiss-Prot Function:
- In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling (PubMed:25514493). Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD4/JUN/FOS complex which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. May act as a tumor suppressor. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
Phenotypes From GWAS Catalog for SMAD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 17438144 |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 9389648 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0000987 | proximal promoter sequence-specific DNA binding | IDA | 18832382 |
Phenotypes for SMAD4 Gene
- MGI mutant phenotypes for SMAD4:
-
inferred from 18 alleles
- nervous system phenotype
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for SMAD4:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- Reduced mammosphere formation
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Increased shRNA abundance (Z-score > 2)
- Increased Nanog expression
- Increased transcriptional activity
- Decreased viability in colon lineage
- S arrest
- Downregulation of NFkappaB pathway
- Increased S DNA content, increased G2M DNA content
- Increased mitotic index
- Synthetic lethal with gemcitabine
- Increased sensitivity to paclitaxel
Animal Models for SMAD4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SMAD4 - Select products 50% OFF >
- * SMAD4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD4
miRNA for SMAD4 Gene
- miRTarBase miRNAs that target SMAD4
-
- mmu-miR-23b-3p (MIRT000517)
- hsa-miR-26a-5p (MIRT003803)
- hsa-miR-483-3p (MIRT004118)
- hsa-miR-18a-5p (MIRT004736)
- mmu-miR-27b-3p (MIRT004875)
- mmu-miR-24-3p (MIRT004876)
- hsa-miR-17-5p (MIRT005629)
- hsa-miR-19a-3p (MIRT005630)
- hsa-miR-20a-5p (MIRT005631)
- hsa-miR-92a-3p (MIRT005632)
- hsa-miR-203a-3p (MIRT006038)
- hsa-miR-421 (MIRT006190)
- hsa-miR-146a-5p (MIRT006209)
- hsa-miR-224-5p (MIRT006527)
- rno-miR-29a-3p (MIRT006710)
- hsa-miR-125a-5p (MIRT006809)
- hsa-miR-125b-5p (MIRT006810)
- rno-miR-146a-5p (MIRT006961)
- hsa-miR-199a-5p (MIRT007013)
- hsa-miR-130a-3p (MIRT007144)
- hsa-miR-301a-3p (MIRT007250)
- hsa-miR-454-3p (MIRT007251)
- hsa-miR-182-5p (MIRT007306)
- mmu-miR-324-3p (MIRT010784)
- mmu-miR-15a-5p (MIRT011647)
- mmu-miR-122-5p (MIRT013534)
- hsa-miR-130b-3p (MIRT020189)
- hsa-miR-155-5p (MIRT020774)
- hsa-miR-186-5p (MIRT021160)
- hsa-miR-93-5p (MIRT028004)
- hsa-miR-19b-3p (MIRT031156)
- hsa-miR-204-5p (MIRT053029)
- hsa-miR-1260b (MIRT053328)
- hsa-miR-205-5p (MIRT053378)
- hsa-miR-452-5p (MIRT053460)
- hsa-miR-145-5p (MIRT053653)
- mmu-miR-26a-5p (MIRT054737)
- hsa-miR-183-5p (MIRT054867)
- hsa-miR-106a-5p (MIRT080224)
- hsa-miR-106b-5p (MIRT080225)
- hsa-miR-20b-5p (MIRT080226)
- hsa-miR-519c-3p (MIRT080227)
- hsa-miR-526b-3p (MIRT080228)
- hsa-miR-519b-3p (MIRT080229)
- hsa-miR-519d-3p (MIRT080230)
- hsa-miR-519a-3p (MIRT080231)
- hsa-miR-551b-5p (MIRT080232)
- hsa-miR-548c-3p (MIRT080233)
- hsa-miR-301b-3p (MIRT080234)
- hsa-miR-548f-5p (MIRT080235)
- hsa-miR-548g-5p (MIRT080236)
- hsa-miR-548t-5p (MIRT080237)
- hsa-miR-548x-5p (MIRT080238)
- hsa-miR-4295 (MIRT080239)
- hsa-miR-3666 (MIRT080240)
- hsa-miR-548aj-5p (MIRT080241)
- hsa-miR-548aw (MIRT080243)
- hsa-miR-548az-5p (MIRT080244)
- hsa-miR-6715b-3p (MIRT080245)
- hsa-miR-4528 (MIRT198909)
- hsa-miR-34a-5p (MIRT198918)
- hsa-miR-154-5p (MIRT198919)
- hsa-miR-34c-5p (MIRT198920)
- hsa-miR-449a (MIRT198921)
- hsa-miR-449b-5p (MIRT198922)
- hsa-miR-8062 (MIRT198927)
- hsa-miR-4668-5p (MIRT346455)
- hsa-miR-1468-3p (MIRT508703)
- hsa-miR-302a-5p (MIRT508704)
- hsa-miR-616-5p (MIRT508705)
- hsa-miR-373-5p (MIRT508706)
- hsa-miR-371b-5p (MIRT508707)
- hsa-miR-888-5p (MIRT508708)
- hsa-miR-6715a-3p (MIRT554140)
- hsa-miR-5701 (MIRT565564)
- hsa-miR-616-3p (MIRT565565)
- hsa-miR-548au-3p (MIRT565566)
- hsa-miR-8076 (MIRT565567)
- hsa-miR-670-3p (MIRT653369)
- hsa-miR-4799-5p (MIRT653370)
- hsa-miR-27b-3p (MIRT653371)
- hsa-miR-27a-3p (MIRT653372)
- hsa-miR-513a-5p (MIRT653373)
- hsa-miR-6731-3p (MIRT653374)
- hsa-miR-6891-3p (MIRT653375)
- hsa-miR-6072 (MIRT653376)
- hsa-miR-5582-3p (MIRT653377)
- hsa-miR-144-3p (MIRT731606)
- hsa-miR-574-3p (MIRT731875)
- hsa-miR-34a-3p (MIRT732323)
- hsa-miR-31-5p (MIRT733127)
- mmu-miR-146b-5p (MIRT734979)
- hsa-miR-144-5p (MIRT735483)
- hsa-miR-3661 (MIRT785060)
- hsa-miR-4783-5p (MIRT786756)
- hsa-miR-574-5p (MIRT787882)
- hsa-miR-631 (MIRT788162)
- hsa-miR-6867-5p (MIRT789220)
- hsa-miR-933 (MIRT789963)
Targeted motifs for SMAD4 Gene
HOMER Transcription Factor Regulatory Elements motif SMAD4
- Consensus sequence: VBSYGTCTGG Submotif: canonical Cell Type: ESC GEO ID: GSE29422
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMAD4
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Clone Products
- Applied Biological Materials (abm): Clones for SMAD4 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for SMAD4
- Addgene plasmids for SMAD4
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No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for SMAD4 Gene
Localization for SMAD4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMAD4 Gene
- Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R-SMAD (PubMed:15799969). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236). {ECO:0000269 PubMed:15799969, ECO:0000269 PubMed:17327236}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| extracellular | 3 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoplasm (3)
- Centrosome (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA,ISA | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 9311995 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005667 | transcription factor complex | IEA,IPI | 12374795 |
Pathways & Interactions for SMAD4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | SMAD2/3 MH2 Domain Mutants in Cancer | ||
| 2 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
| 3 | Endometrial cancer | ||
| 4 | TGF-Beta Pathway |
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
|
JNK Pathway
.51
|
| 5 | Signaling by BMP |
.33
|
|
Pathways by source for SMAD4 Gene
1 Sino Biological pathway for SMAD4 Gene
29 BioSystems pathways for SMAD4 Gene
24 Reactome pathways for SMAD4 Gene
18 KEGG pathways for SMAD4 Gene
7 GeneGo (Thomson Reuters) pathways for SMAD4 Gene
- Cell cycle Regulation of G1/S transition (part 1)
- Cytokine production by Th17 cells in CF (Mouse model)
- Development Role of Activin A in cell differentiation and proliferation
- Development_TGF-beta receptor signaling
- Immune response IL-2 activation and signaling pathway
2 R&D Systems pathways for SMAD4 Gene
18 Qiagen pathways for SMAD4 Gene
- BMP Pathway
- Cardiomyocyte Differentiation through BMP Receptors
- Colorectal Cancer Metastasis
- Epithelial Adherens Junctions
- Factors Promoting Cardiogenesis in Vertebrates
1 Cell Signaling Technology pathway for SMAD4 Gene
2 GeneTex pathways for SMAD4 Gene
Interacting Proteins for SMAD4 Gene
Selected Interacting proteins:
Q13485-SMAD4_HUMAN
ENSP00000341551
for SMAD4 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SMAD4
SIGNOR curated interactions for SMAD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
| GO:0001541 | ovarian follicle development | IEA | -- |
| GO:0001658 | branching involved in ureteric bud morphogenesis | IEA | -- |
| GO:0001666 | response to hypoxia | IMP | 12411310 |
| GO:0001701 | in utero embryonic development | IEA | -- |
Drugs & Compounds for SMAD4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Capecitabine | Approved, Investigational | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines | 1669 | ||
| Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2451 | ||
| Paclitaxel | Approved, Vet_approved | Pharma | Tubulin and Bcl2 inhibitor, Taxanes | 3701 | ||
| Pirfenidone | Approved, Investigational | Pharma | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 86 | ||
| Albumin-Bound Paclitaxel | Pharma | 3701 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) ApexBio Compounds for SMAD4 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
- G Biosciences Human SMAD4/SMAD family member 4, Lyophilized
- ApexBio compounds for SMAD4
Transcripts for SMAD4 Gene
mRNA/cDNA for SMAD4 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000342988 8772 nts (view in UCSC)
- ENST00000398417 8495 nts (view in UCSC)
- ENST00000585448 459 nts (view in UCSC)
- ENST00000586253 784 nts (view in UCSC)
- ENST00000588745 1371 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SMAD4 - Select products 50% OFF >
- * SMAD4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMAD4
- Browse OriGene Inhibitory RNA Products For SMAD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD4
Clone Products
- Applied Biological Materials (abm): Clones for SMAD4 - Select products 50% OFF >
- * SMAD4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SMAD4
- Addgene plasmids for SMAD4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD4
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - |
Relevant External Links for SMAD4 Gene
- GeneLoc Exon Structure for
- SMAD4
Expression for SMAD4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
- Neural Crest Outflow Tract Cells Outflow Tract
-
Primitive Streak (Early Embryonic Tissues)
- Primitive Streak Cells Anterior Primitive Streak
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Epiblast (Early Embryo)
- Primitive Streak Cells Anterior Primitive Streak
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells "Branchial Arch 3,4,6"
-
Heart (Cardiovascular System)
- Neural Crest Outflow Tract Cells Outflow Tract
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
- Brain (Nervous System)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Thyroid (Endocrine System)
-
Ovary (Reproductive System)
This gene is overexpressed in Ovary (12.2), Liver (7.3), and Peripheral blood mononuclear cells (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMAD4 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMAD4
SOURCE GeneReport for Unigene cluster for SMAD4 Gene:
Hs.75862Evidence on tissue expression from TISSUES for SMAD4 Gene
- Nervous system(4.9)
- Liver(4.7)
- Muscle(4.7)
- Intestine(3.5)
- Pancreas(3.4)
- Kidney(3.3)
- Heart(3.3)
- Skin(3.3)
- Lung(3.2)
- Lymph node(3.2)
- Stomach(3.1)
- Blood(3.1)
- Thyroid gland(3)
- Spleen(2.9)
- Bone marrow(2.8)
- Gall bladder(2.6)
- Adrenal gland(2.5)
- Bone(2.5)
- Eye(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAD4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- cranial nerve
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- salivary gland
- skull
- tongue
- tooth
- vocal cord
Thorax:
- aorta
- breast
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- trachea
Abdomen:
- appendix
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- anus
- pelvis
- rectum
- testicle
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SMAD4
-
OriGene qPCR primer pairs and template standards for SMAD4
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMAD4 Gene
Orthologs for SMAD4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SMAD4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MADH4 31 |
|
OneToOne | |
| SMAD4 30 |
|
||||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | SMAD4 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Smad4 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Smad4 30 |
|
||
| Chicken (Gallus gallus) |
Aves | SMAD7A 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | SMAD4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smad4.1 30 |
|
||
| Str.8149 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.885 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | smad4 31 |
|
OneToMany | |
| SMAD4 (6 of 6) 31 |
|
OneToMany | |||
| SMAD4 (5 of 6) 31 |
|
OneToMany | |||
| zmp:0000000768 30 |
|
||||
| CT955987.1 31 |
|
OneToMany | |||
| SMAD4 (3 of 6) 31 |
|
OneToMany | |||
| SMAD4 (4 of 6) 31 |
|
OneToMany | |||
| madh4 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2009 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Med 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | sma-4 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8788 31 |
|
OneToOne |
- Species where no ortholog for SMAD4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
Evolution for SMAD4 Gene
- ENSEMBL:
- Gene Tree for SMAD4 (if available)
- TreeFam:
- Gene Tree for SMAD4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMAD4: view image
Paralogs for SMAD4 Gene
(5) SIMAP similar genes for SMAD4 Gene using alignment to 13 proteins:
- SMAD4_HUMAN
- K7EIJ2_HUMAN
- K7EIU8_HUMAN
- K7EL15_HUMAN
- K7EL18_HUMAN
- K7ELK2_HUMAN
- K7ENG1_HUMAN
- K7ENG8_HUMAN
- K7ES96_HUMAN
- L7N2F7_HUMAN
- Q9BYG6_HUMAN
- U6BGT8_HUMAN
- U6BKH8_HUMAN
Variants for SMAD4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMAD4 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 24797 | Benign: Juvenile polyposis syndrome | 51,059,834(+) | T/. | INTRON_VARIANT | |
| 639978 | Uncertain Significance: Juvenile polyposis syndrome | 51,076,681(+) | C/T | MISSENSE_VARIANT | |
| 640141 | Uncertain Significance: Juvenile polyposis syndrome | 51,047,049(+) | G/C | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT | |
| 640252 | Uncertain Significance: Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome | 51,076,650(+) | C/T | MISSENSE_VARIANT | |
| 641352 | Uncertain Significance: Juvenile polyposis syndrome | 51,058,143(+) | T/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3342561 | CNV | insertion | 20981092 |
| esv3583062 | CNV | loss | 25503493 |
Residual Variation Intolerance Score:
23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.54;
11.75% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMAD4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD4 Gene
Disorders for SMAD4 Gene
(107) MalaCards diseases for SMAD4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myhre syndrome |
|
|
| juvenile polyposis syndrome |
|
|
| juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
|
|
| pancreatic cancer |
|
|
| generalized juvenile polyposis/juvenile polyposis coli |
|
|
Search SMAD4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMAD4_HUMAN- Pancreatic cancer (PNCA) [MIM:260350]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO:0000269 PubMed:8553070}. Note=The gene represented in this entry may be involved in disease pathogenesis.
- Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. {ECO:0000269 PubMed:12417513, ECO:0000269 PubMed:9811934}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]: JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown. {ECO:0000269 PubMed:15031030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:16959974}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
- Note=SMAD4 variants may be associated with susceptibility to pulmonary hypertension, a disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269 PubMed:21898662}.
- Myhre syndrome (MYHRS) [MIM:139210]: A syndrome characterized by pre- and postnatal growth deficiency, mental retardation, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. {ECO:0000269 PubMed:22158539, ECO:0000269 PubMed:22243968}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SMAD4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SMAD4 Gene
Publications for SMAD4 Gene
- A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PMID: 19211612) Shintani M … Matsuoka R (Journal of medical genetics 2009) 3 23 41
- The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. (PMID: 18823382) Calva-Cerqueira D … Howe JR (Clinical genetics 2009) 3 23 41
- DPC4 gene status of the primary carcinoma correlates with patterns of failure in patients with pancreatic cancer. (PMID: 19273710) Iacobuzio-Donahue CA … Laheru D (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 23 41
- Genetic and epigenetic alterations of familial pancreatic cancers. (PMID: 19064568) Brune K … Goggins M (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 23 41
- High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. (PMID: 17873119) Aretz S … Friedl W (Journal of medical genetics 2007) 3 23 41
ExternalLinks
Products for SMAD4 Gene
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- Browse Antibodies
- Browse Peptides and Proteins
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- Browse ELISA Kits
- Abcam antibodies for SMAD4
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- antibodies-online: Show 44 available SMAD4 Antibodies ranked by validation data
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- 4 IHC (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 DB Antibody (anti-human)
- 1 ICC Antibody (anti-human)
- 74 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 1 IP Antibody (anti-mouse)
- 62 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Show 54 available SMAD4 Elisa Kits ranked by validation data
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- ABIN6386153
- ABIN1117131
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- ABIN773766
- ABIN6231191
- ABIN6231192
- ABIN2685493
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- ABIN772430
- ABIN5656969
- ABIN6231195
- ABIN6231196
- ABIN2949578
- ABIN6231197
- ABIN1056241
- ABIN1564282
- ABIN6231190
- antibodies-online: Show 22 available SMAD4 Proteins ranked by validation data
- Compare Top SMAD4 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SMAD4
- Search Santa Cruz Biotechnology (SCBT) for SMAD4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMAD4
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for SMAD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD4
Sources for SMAD4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
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