Aliases for SMAD6 Gene
Aliases for SMAD6 Gene
- SMAD Family Member 6 2 3 4 5
- MAD Homolog 6 3 4
- MADH6 3 4
- MAD, Mothers Against Decapentaplegic Homolog 6 (Drosophila) 2
- Mothers Against Decapentaplegic, Drosophila, Homolog Of, 6 3
- SMAD, Mothers Against DPP Homolog 6 (Drosophila) 2
- Mothers Against Decapentaplegic Homolog 6 3
- SMAD, Mothers Against DPP Homolog 6 3
External Ids for SMAD6 Gene
- HGNC: 6772
- Entrez Gene: 4091
- Ensembl: ENSG00000137834
- OMIM: 602931
- UniProtKB: O43541
Previous HGNC Symbols for SMAD6 Gene
- MADH7
- MADH6
Previous GeneCards Identifiers for SMAD6 Gene
- GC15P064681
- GC15P064781
- GC15P066994
- GC15P043830
Summaries for SMAD6 Gene
-
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
GeneCards Summary for SMAD6 Gene
SMAD6 (SMAD Family Member 6) is a Protein Coding gene. Diseases associated with SMAD6 include Aortic Valve Disease 2 and Craniosynostosis 7. Among its related pathways are TGF-beta Receptor Signaling (WikiPathways) and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is SMAD7.
UniProtKB/Swiss-Prot for SMAD6 Gene
-
Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.
Additional gene information for SMAD6 Gene
- Monarch Initiative
- Search for SMAD6 at DataMed
- Search for SMAD6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD6 Gene
Genomics for SMAD6 Gene
GeneHancer (GH) Regulatory Elements for SMAD6 Gene
Promoters and enhancers for SMAD6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SMAD6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SMAD6 gene promoter:
Regulatory Element Products
Genomic Locations for SMAD6 Gene
Genomic Locations for SMAD6 Gene
- chr15:66,702,100-66,782,848
- (GRCh38/hg38)
- Size:
- 80,749 bases
- Orientation:
- Plus strand
- chr15:66,994,566-67,074,338
- (GRCh37/hg19)
Genomic View for SMAD6 Gene
Genes around SMAD6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q22.31 by Ensembl
- 15q22.31 by Entrez Gene
- 15q22.31 by HGNC
SMAD6 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 SMAD6 Gene
Proteins for SMAD6 Gene
-
Protein details for SMAD6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43541-SMAD6_HUMAN
- Recommended name:
- Mothers against decapentaplegic homolog 6
- Protein Accession:
- O43541
- A9J6M5
- O43654
- Q15799
- Q7Z7L4
- Q96E31
- Q9UKZ3
Protein attributes for SMAD6 Gene
- Size:
- 496 amino acids
- Molecular mass:
- 53497 Da
- Quaternary structure:
-
- Interacts with NEDD4L (By similarity). Interacts with WWP1 (By similarity). Interacts with STAMBP and PRKX. Interacts with RNF111 and AXIN1. Interacts with TGF-beta type I receptor superfamily members, including ACVR1B, BMPR1B and TGFBR1. In response to BMP2, but not to TGFB treatment, interacts with SMAD1, but not with SMAD2, nor with SMAD4; this interaction may inhibit SMAD1 binding to SMAD4. Interacts with HOXC8 and HOXC9. Interacts with PELI1; this interaction interferes with PELI1 complex formation with TRAF6, IRAK1, IRAK4 and MYD88 in response to IL1B and hence negatively regulates IL1R-TLR signaling.
Protein Expression for SMAD6 Gene
Post-translational modifications for SMAD6 Gene
- Arginine methylation by PRMT1, which is recruited by BMPR2, initiates BMP-Induced signaling and induces dissociation from the BMPR1B receptor at the cell surface leading to derepress downstream Smad1/Smad5 signaling.
- Monoubiquitinated at Lys-173 by the E2/E3 hybrid ubiquitin-protein ligase UBE2O, leading to reduced binding affinity for the activated BMP type I receptor ACVR1/ALK2, thereby enhancing BMP7 and regulating adipocyte differentiation (PubMed:23455153). Ubiquitinated by WWP1 (By similarity). Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling (By similarity).
- Phosphorylated by BMP type 1 receptor kinase and by PRKX.
- Ubiquitination at isoforms=4173
- Modification sites at PhosphoSitePlus
Other Protein References for SMAD6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SMAD6
- Novus Biologicals Antibodies for SMAD6
-
Abcam antibodies for SMAD6
-
Cloud-Clone Corp. Antibodies for SMAD6
- Invitrogen Antibodies for SMAD6
- antibodies-online: Search results for 153 available SMAD6 Antibodies ranked by validation data
- Compare Top SMAD6 Antibodies
-
Recommended
- 1 IHC (p) Antibody (anti-rat)
- 19 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-mouse)
- 45 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 123 WB Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-rat)
- 19 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-mouse)
- 45 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 123 WB Antibodies (anti-human)
- GeneTex SMAD6 antibody for SMAD6
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMAD6
Protein Products
-
OriGene Purified Proteins for SMAD6
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD6
- Origene Custom Protein Services for SMAD6
-
Cloud-Clone Corp. Proteins for SMAD6
- Search GeneTex for Proteins for SMAD6
-
Abcam proteins for SMAD6
Assay Products
No data available for DME Specific Peptides for SMAD6 Gene
Domains & Families for SMAD6 Gene
Gene Families for SMAD6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SMAD6 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMAD6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O43541- Family:
-
- Belongs to the dwarfin/SMAD family.
Function for SMAD6 Gene
Molecular function for SMAD6 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.
Phenotypes From GWAS Catalog for SMAD6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 16491121 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IDA | 16491121 |
| GO:0003700 | DNA binding transcription factor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 9436979 |
Phenotypes for SMAD6 Gene
- MGI mutant phenotypes for SMAD6:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SMAD6:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased transferrin (TF) endocytosis
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
Animal Models for SMAD6 Gene
- MGI Knock Outs for SMAD6:
-
- Smad6 tm1Glvn
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMAD6
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SMAD6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD6 gene
- Search ViGene Biosciences for SMAD6
CRISPR Products
-
OriGene CRISPR knockouts for SMAD6
- genomics-online: gRNA clones - Search results for 81 available SMAD6 gene related products
- Overview of 81 available SMAD6 gene related products
- Applied Biological Materials CRISPR for SMAD6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD6
- GenScript: Design CRISPR guide RNA sequences for SMAD6
miRNA for SMAD6 Gene
- miRTarBase miRNAs that target SMAD6
-
- hsa-mir-520h (MIRT001951)
- hsa-mir-26b-5p (MIRT030225)
- hsa-mir-17-5p (MIRT140790)
- hsa-mir-20a-5p (MIRT140794)
- hsa-mir-32-5p (MIRT140796)
- hsa-mir-92a-3p (MIRT140797)
- hsa-mir-93-5p (MIRT140798)
- hsa-mir-106b-5p (MIRT140800)
- hsa-mir-20b-5p (MIRT140803)
- hsa-mir-519d-3p (MIRT140805)
- hsa-mir-92b-3p (MIRT140807)
- hsa-let-7c-5p (MIRT439143)
- hsa-mir-1305 (MIRT627550)
- hsa-mir-1238-3p (MIRT627551)
- hsa-mir-670-3p (MIRT627552)
- hsa-mir-6749-3p (MIRT627553)
- hsa-mir-6792-3p (MIRT627554)
- hsa-mir-4691-5p (MIRT627555)
- hsa-mir-211-5p (MIRT627556)
- hsa-mir-204-5p (MIRT627557)
- hsa-mir-6820-3p (MIRT627558)
- hsa-mir-3164 (MIRT627559)
- hsa-mir-3118 (MIRT627560)
- hsa-mir-134-5p (MIRT627561)
- hsa-mir-3124-3p (MIRT627562)
- hsa-mir-4685-3p (MIRT627563)
- hsa-mir-4287 (MIRT627564)
- hsa-mir-6832-3p (MIRT627565)
- hsa-mir-4501 (MIRT627566)
- hsa-mir-8066 (MIRT627567)
miRNA Products
- Search ViGene Biosciences for SMAD6
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SMAD6
- Browse OriGene Inhibitory RNA Products For SMAD6
- genomics-online: shRNA clones - Search results for 81 available SMAD6 gene related products
- Overview of 81 available SMAD6 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD6 gene
Clone Products
- Sino Biological Human cDNA Clone for SMAD6
- VectorBuilder custom plasmid, inducible vectors for SMAD6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SMAD6
- Applied Biological Materials Clones for SMAD6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SMAD6
-
ViGene Biosciences adenoviral particle packaged cDNA for SMAD6 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SMAD6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD6 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMAD6 Gene
Localization for SMAD6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMAD6 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 1 |
- Nuclear bodies (3)
- Nucleus (3)
- Golgi apparatus (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 16491121 |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0005737 | cytoplasm | TAS | 19018011 |
| GO:0005794 | Golgi apparatus | IDA | -- |
Pathways & Interactions for SMAD6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by BMP |
.33
|
|
| 2 | TGF-beta signaling pathway (KEGG) | ||
| 3 | Signaling by GPCR | ||
| 4 | Integrated Breast Cancer Pathway | ||
| 5 | Mesodermal Commitment Pathway | ||
Pathways by source for SMAD6 Gene
1 GeneTex pathway for SMAD6 Gene
2 Reactome pathways for SMAD6 Gene
1 KEGG pathway for SMAD6 Gene
Interacting Proteins for SMAD6 Gene
Selected Interacting proteins:
O43541-SMAD6_HUMAN
ENSP00000288840
for SMAD6 Gene via
IID
UniProtKB
STRING
MINT
SIGNOR curated interactions for SMAD6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001657 | ureteric bud development | IEA | -- |
| GO:0003148 | outflow tract septum morphogenesis | ISS | -- |
| GO:0003170 | heart valve development | IEA | -- |
| GO:0003183 | mitral valve morphogenesis | ISS | -- |
| GO:0003184 | pulmonary valve morphogenesis | ISS | -- |
Drugs & Compounds for SMAD6 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Pirfenidone | Approved, Investigational | Pharma | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 65 | ||
| LDN193189 Hydrochloride | Pharma | ALK inhibitor,potent and selective | 0 | |||
| LY364947 | Pharma | 0 | ||||
| RepSox | Pharma | ALK5 inhibitor,potent and selective, Potent and selective inhibitor of TGF-betaRI | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) ApexBio Compounds for SMAD6 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 |
Transcripts for SMAD6 Gene
mRNA/cDNA for SMAD6 Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (221) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SMAD6
- genomics-online: gRNA clones - Search results for 81 available SMAD6 gene related products
- Overview of 81 available SMAD6 gene related products
- Applied Biological Materials CRISPR for SMAD6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD6
- GenScript: Design CRISPR guide RNA sequences for SMAD6
miRNA Products
- Search ViGene Biosciences for SMAD6
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SMAD6
- Browse OriGene Inhibitory RNA Products For SMAD6
- genomics-online: shRNA clones - Search results for 81 available SMAD6 gene related products
- Overview of 81 available SMAD6 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SMAD6 gene
Clone Products
- Sino Biological Human cDNA Clone for SMAD6
- VectorBuilder custom plasmid, inducible vectors for SMAD6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SMAD6
- Applied Biological Materials Clones for SMAD6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SMAD6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Heart (Cardiovascular System)
- Outflow Tract
- Cushion Mesenchymal Cells Endocardium
- Endocardial Tube Cells Endocardium
- Atrioventricular Canal Cells Atrioventricular Canal
- Adipose (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Bone (Muscoskeletal System)
- NULL (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
- Blood (Hematopoietic System)
-
Dermis (Integumentary System)
- Guard Dermal Papilla Cells Dermal Papilla
- Zigzag Dermal Papilla Cells Dermal Papilla
-
Hair (Integumentary System)
- Guard Dermal Papilla Cells Dermal Papilla
- Zigzag Dermal Papilla Cells Dermal Papilla
-
Primitive Streak (Early Embryo)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Epiblast (Early Embryo)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Smooth Muscle (Muscoskeletal System)
- Mural Cells Splanchnic Mesoderm
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Mural Cells Splanchnic Mesoderm
-
Fibroblasts (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for SMAD6 Gene
This gene is overexpressed in Heart - Atrial Appendage (x5.8) and Lung (x4.7).
This gene is overexpressed in Liver (60.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMAD6 Gene
NURSA nuclear receptor signaling pathways regulating expression of SMAD6 Gene:
SMAD6SOURCE GeneReport for Unigene cluster for SMAD6 Gene:
Hs.153863mRNA Expression by UniProt/SwissProt for SMAD6 Gene:
O43541-SMAD6_HUMAN
Tissue specificity:
Ubiquitous in various organs, with higher levels in lung. Isoform B is up-regulated in diseased heart tissue.
Evidence on tissue expression from TISSUES for SMAD6 Gene
- Blood(4.2)
- Lung(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAD6 Gene
Germ Layers:
- mesoderm
Systems:
- cardiovascular
Regions:
Head and neck:
- ear
Thorax:
- aorta
- heart
- heart valve
General:
- blood
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for SMAD6
-
OriGene qPCR primer pairs and template standards for SMAD6
- genomics-online: primer clones - Search results for 81 available SMAD6 gene related products
- Overview of 81 available SMAD6 gene related products
Gene Expression Assay Products
Orthologs for SMAD6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SMAD6 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SMAD6 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SMAD6 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Smad6 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Smad6 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SMAD6 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SMAD6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SMAD6 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SMAD6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.2540 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2593 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC564395 33 |
|
||
| smad6a 34 |
|
OneToOne | |||
| wufk08g05 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Dad 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | daf-3 34 |
|
ManyToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9437 34 |
|
OneToMany |
- Species where no ortholog for SMAD6 was found in the sources mined by GeneCards:
-
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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 SMAD6 Gene
(1) SIMAP similar genes for SMAD6 Gene using alignment to 4 proteins:
Variants for SMAD6 Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1035549645 | likely-benign, Loeys-Dietz syndrome 3 | 66,703,906(+) | C/G | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant | |
| rs1056072996 | uncertain-significance, Loeys-Dietz syndrome 3 | 66,703,511(+) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant | |
| rs1060500751 | uncertain-significance, Aortic valve disease 2 | 66,703,576(+) | CGT/AGG | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant | |
| rs1064793003 | risk-factor, CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | 66,703,925(+) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant | |
| rs1085307122 | risk-factor, CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | 66,781,078(+) | G/ | coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv746e212 | CNV | loss | 25503493 |
| esv3636772 | CNV | loss | 21293372 |
| esv3636773 | CNV | gain | 21293372 |
| nsv827370 | CNV | gain | 20364138 |
Gene Damage Index Score:
2.71;
46.38% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMAD6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD6 Gene
Disorders for SMAD6 Gene
(5) MalaCards diseases for SMAD6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| aortic valve disease 2 |
|
|
| craniosynostosis 7 |
|
|
| familial bicuspid aortic valve |
|
|
| craniosynostosis |
|
|
| hypoplastic left heart syndrome |
|
|
Search SMAD6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMAD6_HUMAN- Aortic valve disease 2 (AOVD2) [MIM:614823]: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. {ECO:0000269 PubMed:22275001}. Note=The disease is caused by mutations affecting the gene represented in this entry. SMAD6 variants may contribute to increased risk of congenital cardiovascular malformations (CVM). CVM is a major cause of mortality and morbidity in childhood. In most sporadic cases that cannot be attributed to particular malformation syndromes or teratogenic exposures, there remains a substantial excess familial risk, indicating a significant genetic contribution to disease susceptibility (PubMed:22275001). {ECO:0000269 PubMed:22275001}.
- Craniosynostosis 7 (CRS7) [MIM:617439]: A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269 PubMed:27606499}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Rare heterozygous SMAD6 variants are strongly associated with non-syndromic midline craniosynostosis and confer a very high risk for disease development, in the presence of a common risk allele (rs1884302) near the BMP2 locus. {ECO:0000269 PubMed:27606499}.
Additional Disease Information for SMAD6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SMAD6 Gene
Publications for SMAD6 Gene
- A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PMID: 19211612) Shintani M … Matsuoka R (Journal of medical genetics 2009) 3 22 44 58
- Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1. (PMID: 16951688) Choi KC … Park SH (Nature immunology 2006) 3 4 22 58
- Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads. (PMID: 11483516) Itoh F … Itoh S (The EMBO journal 2001) 3 4 22 58
- Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family members. (PMID: 9712726) Afrakhte M … ten Dijke P (Biochemical and biophysical research communications 1998) 3 4 22 58
- Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium. (PMID: 9256479) Topper JN … Falb D (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 22 58
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