SMAD9 (SMAD family member 9)

2008-07-01  

Identity

HGNC
LOCATION
13q13.3
LOCUSID
ALIAS
MADH6,MADH9,PPH2,SMAD8,SMAD8/9,SMAD8A,SMAD8B
FUSION GENES

Other Information

Locus ID:

NCBI: 4093
MIM: 603295
HGNC: 6774
Ensembl: ENSG00000120693

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120693ENST00000350148O15198
ENSG00000120693ENST00000350148A0A024RDR3
ENSG00000120693ENST00000379826O15198
ENSG00000120693ENST00000399275O15198

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
BMP signalingKEGGhsa_M00679
BMP signalingKEGGM00679
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387030292024Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway.0
387030292024Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway.0
368832702023Secreted phosphoprotein 24 kD (Spp24) inhibits the growth of human osteosarcoma through the BMP-2/Smad signaling pathway.0
368832702023Secreted phosphoprotein 24 kD (Spp24) inhibits the growth of human osteosarcoma through the BMP-2/Smad signaling pathway.0
315252802020A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.20
315252802020A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.20
306170532019Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population.2
309537492019Non-canonical cyclic AMP SMAD1/5/8 signalling in human granulosa cells.4
306170532019Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population.2
309537492019Non-canonical cyclic AMP SMAD1/5/8 signalling in human granulosa cells.4
284242372017Absence of SMAD9(v90m) mutation in juvenile polyposis syndrome.0
285823162017New targets for pulmonary arterial hypertension: going beyond the currently targeted three pathways.7
284242372017Absence of SMAD9(v90m) mutation in juvenile polyposis syndrome.0
285823162017New targets for pulmonary arterial hypertension: going beyond the currently targeted three pathways.7
267485602016Smad8/9 Is Regulated Through the BMP Pathway.11

Citation

Dessen P

SMAD9 (SMAD family member 9)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50221/smad9