SMAD6 (SMAD family member 6)

2004-02-01  

Identity

HGNC
SMAD6
LOCATION
15q22.31
LOCUSID
4091
ALIAS
AOVD2,HsT17432,MADH6,MADH7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4091
MIM: 602931
HGNC: 6772
Ensembl: ENSG00000137834

Variants:

dbSNP: 4091
ClinVar: 4091
TCGA: ENSG00000137834
COSMIC: SMAD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137834ENST00000288840O43541
ENSG00000137834ENST00000557916O43541
ENSG00000137834ENST00000558937H0YK80
ENSG00000137834ENST00000559931H0YM33

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451

References

Pubmed IDYearTitleCitations
382908232024Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.0
382908232024Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.0
359172322023miR-20a-5p regulated SMAD6 to inhibit chondrogenesis of hDPSCs.0
359575562023Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling.2
377870892023Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development.2
359172322023miR-20a-5p regulated SMAD6 to inhibit chondrogenesis of hDPSCs.0
359575562023Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling.2
377870892023Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development.2
349530662022A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.5
357874402022Assessing the prevalence of S-shaped root canal and associated genes in humans.1
349530662022A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.5
357874402022Assessing the prevalence of S-shaped root canal and associated genes in humans.1
332459752021Investigation of Genetic Polymorphisms in BMP2, BMP4, SMAD6, and RUNX2 and Persistent Apical Periodontitis.6
336675432021Arginine methylation of R81 in Smad6 confines BMP-induced Smad1 signaling.3
337798852021SMAD6 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-(smad-family-member-6)