Identity
HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
AOVD2,HsT17432,MADH6,MADH7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4091
MIM: 602931
HGNC: 6772
Ensembl: ENSG00000137834
Variants:
dbSNP: 4091
ClinVar: 4091
TCGA: ENSG00000137834
COSMIC: SMAD6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000137834 | ENST00000288840 | O43541 |
| ENSG00000137834 | ENST00000557916 | O43541 |
| ENSG00000137834 | ENST00000558937 | H0YK80 |
| ENSG00000137834 | ENST00000559931 | H0YM33 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| TGF-beta signaling pathway | KEGG | ko04350 |
| TGF-beta signaling pathway | KEGG | hsa04350 |
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by BMP | REACTOME | R-HSA-201451 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38290823 | 2024 | Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. | 0 |
| 38290823 | 2024 | Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. | 0 |
| 35917232 | 2023 | miR-20a-5p regulated SMAD6 to inhibit chondrogenesis of hDPSCs. | 0 |
| 35957556 | 2023 | Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling. | 2 |
| 37787089 | 2023 | Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development. | 2 |
| 35917232 | 2023 | miR-20a-5p regulated SMAD6 to inhibit chondrogenesis of hDPSCs. | 0 |
| 35957556 | 2023 | Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling. | 2 |
| 37787089 | 2023 | Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development. | 2 |
| 34953066 | 2022 | A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis. | 5 |
| 35787440 | 2022 | Assessing the prevalence of S-shaped root canal and associated genes in humans. | 1 |
| 34953066 | 2022 | A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis. | 5 |
| 35787440 | 2022 | Assessing the prevalence of S-shaped root canal and associated genes in humans. | 1 |
| 33245975 | 2021 | Investigation of Genetic Polymorphisms in BMP2, BMP4, SMAD6, and RUNX2 and Persistent Apical Periodontitis. | 6 |
| 33667543 | 2021 | Arginine methylation of R81 in Smad6 confines BMP-induced Smad1 signaling. | 3 |
| 33779885 | 2021 | SMAD6 transduces endothelial cell flow responses required for blood vessel homeostasis. | 17 |
Citation
Dessen P
SMAD6 (SMAD family member 6)
Atlas Genet Cytogenet Oncol Haematol. 2004-02-01
Online version: http://atlasgeneticsoncology.org/gene/41231/smad6
