SMAD9 (SMAD family member 9)

2008-07-01 Affiliation

Identity

HGNC

SMAD9

LOCATION

13q13.3

LOCUSID

4093

ALIAS

MADH6,MADH9,PPH2,SMAD8,SMAD8/9,SMAD8A,SMAD8B

FUSION GENES

Show Gene Fusions

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: 4093
MIM: 603295
HGNC: 6774
Ensembl: ENSG00000120693

Variants:

dbSNP: 4093
ClinVar: 4093
TCGA: ENSG00000120693
COSMIC: SMAD9

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000120693	ENST00000350148	O15198
ENSG00000120693	ENST00000350148	A0A024RDR3
ENSG00000120693	ENST00000379826	O15198
ENSG00000120693	ENST00000399275	O15198

Expression (GTEx)

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

Pathway	Source	External ID
TGF-beta signaling pathway	KEGG	ko04350
TGF-beta signaling pathway	KEGG	hsa04350
Signaling pathways regulating pluripotency of stem cells	KEGG	hsa04550
Signaling pathways regulating pluripotency of stem cells	KEGG	ko04550
BMP signaling	KEGG	hsa_M00679
BMP signaling	KEGG	M00679
Signal Transduction	REACTOME	R-HSA-162582
Signaling by BMP	REACTOME	R-HSA-201451

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19211612	2009	A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.	62
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18775991	2008	Endoglin promotes transforming growth factor beta-mediated Smad 1/5/8 signaling and inhibits endothelial cell migration through its association with GIPC.	43
22897816	2013	Activated NF-κB in bone marrow mesenchymal stem cells from systemic lupus erythematosus patients inhibits osteogenic differentiation through downregulating Smad signaling.	19
19244313	2009	Serotonin induces Rho/ROCK-dependent activation of Smads 1/5/8 in pulmonary artery smooth muscle cells.	18
19269967	2009	BMP4-Smad signaling pathway mediates adriamycin-induced premature senescence in lung cancer cells.	15
27848974	2016	Differential expression of TGF-β superfamily members and role of Smad1/5/9-signalling in chondral versus endochondral chondrocyte differentiation.	14
23384547	2013	Impaired glycolytic metabolism causes chondrocyte hypertrophy-like changes via promotion of phospho-Smad1/5/8 translocation into nucleus.	12
22452883	2012	Inhibition of mTORC1 kinase activates Smads 1 and 5 but not Smad8 in human prostate cancer cells, mediating cytostatic response to rapamycin.	7
23804438	2013	Computational modelling of Smad-mediated negative feedback and crosstalk in the TGF-β superfamily network.	7

Citation

Dessen P

SMAD9 (SMAD family member 9)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50221/smad9-(smad-family-member-9)