SMAD6 Gene (Protein Coding)

SMAD Family Member 6

GC15P066702
GIFtS:
47
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 transc... See more...

Aliases for SMAD6 Gene

Aliases for SMAD6 Gene

  • SMAD Family Member 6 2 3 4 5
  • Mothers Against Decapentaplegic Homolog 6 3 4
  • MAD Homolog 6 3 4
  • HsT17432 2 3
  • 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
  • SMAD, Mothers Against DPP Homolog 6 3
  • Mothers Against DPP Homolog 6 4
  • SMAD 6 4
  • HSMAD6 4
  • AOVD2 3
  • MADH7 3
  • SMAD6 5
  • Smad6 4

External Ids for SMAD6 Gene

Previous HGNC Symbols for SMAD6 Gene

  • MADH7
  • MADH6

Previous GeneCards Identifiers for SMAD6 Gene

  • GC15P064681
  • GC15P064781
  • GC15P066994
  • GC15P043830

Summaries for SMAD6 Gene

Entrez Gene Summary 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 Signaling by GPCR and Signaling by BMP. 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 Summary 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.

Gene Wiki entry for SMAD6 Gene

Additional gene information for SMAD6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMAD6 Gene

Genomics for SMAD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SMAD6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMAD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMAD6

Top Transcription factor binding sites by QIAGEN in the SMAD6 gene promoter:
  • AML1a

Genomic Locations for SMAD6 Gene

Latest Assembly
chr15:66,702,110-66,782,849
(GRCh38/hg38)
Size:
80,740 bases
Orientation:
Plus strand

Previous Assembly
chr15:66,994,574-67,075,187
(GRCh37/hg19 by Entrez Gene)
Size:
80,614 bases
Orientation:
Plus strand

chr15:66,994,566-67,074,338
(GRCh37/hg19 by Ensembl)
Size:
79,773 bases
Orientation:
Plus strand

Genomic View for SMAD6 Gene

Genes around SMAD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMAD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMAD6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SMAD6 Gene

Proteins for SMAD6 Gene

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  • Protein details for SMAD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43541-SMAD6_HUMAN
    Recommended name:
    Mothers against decapentaplegic homolog 6
    Protein Accession:
    O43541
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for SMAD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMAD6 Gene

Protein Expression for SMAD6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SMAD6 Gene

  • Phosphorylated by BMP type 1 receptor kinase and by PRKX.
  • 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).
  • 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.
  • Ubiquitination at Lys173
  • Modification sites at PhosphoSitePlus

Other Protein References for SMAD6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for SMAD6

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:
  • Dwarfin protein

Suggested Antigen Peptide Sequences for SMAD6 Gene

GenScript: Design optimal peptide antigens:
  • SMAD family member 6 (SMAD6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43541

UniProtKB/Swiss-Prot:

SMAD6_HUMAN :
  • Belongs to the dwarfin/SMAD family.
Family:
  • Belongs to the dwarfin/SMAD family.
genes like me logo Genes that share domains with SMAD6: view

Function for SMAD6 Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for SMAD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region 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
genes like me logo Genes that share ontologies with SMAD6: view
genes like me logo Genes that share phenotypes with SMAD6: view

Human Phenotype Ontology for SMAD6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMAD6 Gene

MGI Knock Outs for SMAD6:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD6

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMAD6 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 4
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMAD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 16491121
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm TAS 19018011
genes like me logo Genes that share ontologies with SMAD6: view

Pathways & Interactions for SMAD6 Gene

genes like me logo Genes that share pathways with SMAD6: view

Pathways by source for SMAD6 Gene

1 Sino Biological pathway for SMAD6 Gene
2 Reactome pathways for SMAD6 Gene
1 KEGG pathway for SMAD6 Gene
1 GeneTex pathway for SMAD6 Gene

SIGNOR curated interactions for SMAD6 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process 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:0003180 aortic valve morphogenesis IMP 22275001
GO:0003183 mitral valve morphogenesis ISS --
genes like me logo Genes that share ontologies with SMAD6: view

Drugs & Compounds for SMAD6 Gene

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(5) Drugs for SMAD6 Gene - From: ApexBio and Novoseek

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 92
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

(1) Additional Compounds for SMAD6 Gene - From: Novoseek

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
genes like me logo Genes that share compounds with SMAD6: view

Drug products for research

Transcripts for SMAD6 Gene

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mRNA/cDNA for SMAD6 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD6

Alternative Splicing Database (ASD) splice patterns (SP) for SMAD6 Gene

No ASD Table

Relevant External Links for SMAD6 Gene

GeneLoc Exon Structure for
SMAD6

Expression for SMAD6 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMAD6 Gene

mRNA expression in normal human tissues for SMAD6 Gene
mRNA expression by BioGPS for SMAD6 GenemRNA expression by GTEx for SMAD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for SMAD6 Gene

This gene is overexpressed in Liver (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMAD6 Gene



Protein tissue co-expression partners for SMAD6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMAD6

SOURCE GeneReport for Unigene cluster for SMAD6 Gene:

Hs.153863

mRNA 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(4.4)
  • Lung(3.1)
  • Muscle(2.5)
  • Nervous system(2.5)
  • Heart(2.4)
  • Kidney(2.4)
  • Bone(2.1)
  • Liver(2)

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
genes like me logo Genes that share expression patterns with SMAD6: view

Orthologs for SMAD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMAD6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SMAD6 29 30
  • 99.26 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SMAD6 29 30
  • 95.36 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SMAD6 29 30
  • 94.02 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Smad6 29 16 30
  • 91.12 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Smad6 29
  • 90.9 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SMAD6 30
  • 83 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SMAD6 30
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SMAD6 29 30
  • 76.97 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SMAD6 30
  • 68 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.2593 29
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.2540 29
Zebrafish
(Danio rerio)
 Actinopterygii LOC564395 29
  • 67.44 (n)
smad6a 30
  • 59 (a)
 OneToOne
wufk08g05 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Dad 30
  • 24 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea daf-3 30
  • 13 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9437 30
  • 33 (a)
 OneToMany
Species where no ortholog for SMAD6 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 SMAD6 Gene

ENSEMBL:
Gene Tree for SMAD6 (if available)
TreeFam:
Gene Tree for SMAD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMAD6: view image
Alliance of Genome Resources:
Additional Orthologs for SMAD6

Paralogs for SMAD6 Gene

Paralogs for SMAD6 Gene

(1) SIMAP similar genes for SMAD6 Gene using alignment to 4 proteins:

  • SMAD6_HUMAN
  • H0YK80_HUMAN
  • H0YM33_HUMAN
  • L8E6S0_HUMAN
genes like me logo Genes that share paralogs with SMAD6: view

Variants for SMAD6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMAD6 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1000571 Uncertain Significance: Aortic valve disease 2 66,781,404(+) G/A
NM_005585.5(SMAD6):c.1360G>A (p.Ala454Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1001324 Uncertain Significance: Aortic valve disease 2 66,703,516(+) A/AG
NM_005585.5(SMAD6):c.263dup (p.Arg91fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
1001436 Uncertain Significance: Aortic valve disease 2 66,703,556(+) G/C
NM_005585.5(SMAD6):c.298G>C (p.Ala100Pro) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1006378 Uncertain Significance: Aortic valve disease 2 66,711,709(+) G/A
NM_005585.5(SMAD6):c.859G>A (p.Glu287Lys) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1007368 Uncertain Significance: Aortic valve disease 2 66,703,646(+) T/C
NM_005585.5(SMAD6):c.388T>C (p.Ser130Pro) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SMAD6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SMAD6 Gene

Variant ID Type Subtype PubMed ID
dgv746e212 CNV loss 25503493
esv3636772 CNV loss 21293372
esv3636773 CNV gain 21293372
nsv827370 CNV gain 20364138

Variation tolerance for SMAD6 Gene

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

Human Gene Mutation Database (HGMD)
SMAD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMAD6
Leiden Open Variation Database (LOVD)
SMAD6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD6 Gene

Disorders for SMAD6 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SMAD6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
aortic valve disease 2
  • aovd2
craniosynostosis 7
  • crs7
radioulnar synostosis, nonsyndromic
  • radioulnar synostosis, nonsyndromic, susceptibility to
aortic valve disease 1
  • aovd1
radioulnar synostosis
  • congenital radioulnar synostosis
- elite association - COSMIC cancer census association via MalaCards
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 variants 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 variants 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SMAD6: view

No data available for Genatlas for SMAD6 Gene

Publications for SMAD6 Gene

  1. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. (PMID: 27606499) Timberlake AT … Lifton RP (eLife 2016) 3 4 72
  2. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. (PMID: 22275001) Tan HL … Keavney BD (Human mutation 2012) 3 4 72
  3. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PMID: 19211612) Shintani M … Matsuoka R (Journal of medical genetics 2009) 3 22 40
  4. 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
  5. Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads. (PMID: 11483516) Itoh F … Itoh S (The EMBO journal 2001) 3 4 22

ExternalLinks

View latest publications for SMAD6 gene in Mastermind

Products for SMAD6 Gene

  • Addgene plasmids for SMAD6

Sources for SMAD6 Gene